| 1 | Personal journeys to and in human genetics and dysmorphology | 1.7 | 2 | Citations (PDF) |
| 2 | The spectrum of brain malformations and disruptions in twins | 1.7 | 31 | Citations (PDF) |
| 3 | Continuing contributions of older academics | 1.7 | 2 | Citations (PDF) |
| 4 | <scp>The mystery of monozygotic twinning</scp> I: What can Amyoplasia tell us about monozygotic twinning and the possible role of <scp>twin–twin</scp> transfusion? | 1.7 | 9 | Citations (PDF) |
| 5 | <scp>The mystery of monozygotic twinning II</scp>: What can monozygotic twinning tell us about Amyoplasia from a review of the various mechanisms and types of monozygotic twinning? | 1.7 | 8 | Citations (PDF) |
| 6 | Deformations associated with arthrogryposis | 1.7 | 14 | Citations (PDF) |
| 7 | Northwest Indigenous Art and the Inspiring Spirits | 4.2 | 2 | Citations (PDF) |
| 8 | The Clubfoot, Le Pied‐Bot | 4.2 | 1 | Citations (PDF) |
| 9 | The contributions of careful clinical observations: A legacy | 1.7 | 1 | Citations (PDF) |
| 10 | Examining the Vanishing Twin Hypothesis of Neural Tube Defects: Application of an Epigenetic Predictor for Monozygotic Twinning | 0.9 | 3 | Citations (PDF) |
| 11 | Using the Term Amyoplasia Loosely Can Lead to Confusion | 6.5 | 2 | Citations (PDF) |
| 12 | Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesis | 1.7 | 46 | Citations (PDF) |
| 13 | 50 Years Ago in T J P | 2.0 | 2 | Citations (PDF) |
| 14 | Aerodigestive and communicative behaviors in anencephalic and hydranencephalic infants | 1.7 | 5 | Citations (PDF) |
| 15 | Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care | 4.2 | 25 | Citations (PDF) |
| 16 | Research platform for children with arthrogryposis multiplex congenita: Findings from the pilot registry | 4.2 | 18 | Citations (PDF) |
| 17 | A standardized autopsy protocol for arthrogryposis (multiple congenital contractures) | 4.2 | 6 | Citations (PDF) |
| 18 | Gene ontology analysis of arthrogryposis (multiple congenital contractures) | 4.2 | 49 | Citations (PDF) |
| 19 | Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management | 4.2 | 38 | Citations (PDF) |
| 20 | International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita | 4.2 | 69 | Citations (PDF) |
| 21 | Fetal cervical hyperextension in arthrogryposis | 4.2 | 5 | Citations (PDF) |
| 22 | Reader response: Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype | 1.2 | 1 | Citations (PDF) |
| 23 | Classification of arthrogryposis | 4.2 | 47 | Citations (PDF) |
| 24 | Collaborating to advance interdisciplinary care for individuals with arthrogryposis | 4.2 | 4 | Citations (PDF) |
| 25 | Summary of the 3rd international symposium on arthrogryposis | 4.2 | 13 | Citations (PDF) |
| 26 | Development of an online registry for adults with arthrogryposis multiplex congenita: A protocol paper | 4.2 | 11 | Citations (PDF) |
| 27 | Twins and Twinning 2019, , 387-414 | | 3 | Citations (PDF) |
| 28 | Reflections on an academic career | 1.7 | 4 | Citations (PDF) |
| 29 | Background to the 2nd International Symposium on Arthrogryposis | 1.4 | 10 | Citations (PDF) |
| 30 | The Clinic Is My Laboratory: Life as a Clinical Geneticist | 7.5 | 4 | Citations (PDF) |
| 31 | Genetics and Classifications | 1.4 | 35 | Citations (PDF) |
| 32 | Novel pathogenic variants and genes for myopathies identified by whole exome sequencing | 1.7 | 46 | Citations (PDF) |
| 33 | Review of X‐linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification | 1.7 | 20 | Citations (PDF) |
| 34 | Judith G. Hall: a genetic journey | 2.2 | 0 | Citations (PDF) |
| 35 | Arthrogryposis 2015, , 96-114 | | 1 | Citations (PDF) |
| 36 | Epigenetics: What does it mean for paediatric practice? | 0.6 | 6 | Citations (PDF) |
| 37 | Pallister–Hall syndrome has gone the way of modern medical genetics | 4.2 | 19 | Citations (PDF) |
| 38 | Fetal akinesia deformation sequence: Expanding the phenotypic spectrum | 1.7 | 14 | Citations (PDF) |
| 39 | Amyoplasia involving only the upper limbs or only involving the lower limbs with review of the relevant differential diagnoses | 1.7 | 21 | Citations (PDF) |
| 40 | Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles | 1.7 | 254 | Citations (PDF) |
| 41 | Oligohydramnios sequence revisited in relationship to arthrogryposis, with distinctive skin changes | 1.7 | 23 | Citations (PDF) |
| 42 | Amyoplasia revisited | 1.7 | 109 | Citations (PDF) |
| 43 | Arthrogryposes (Multiple Congenital Contractures) 2013, , 1-101 | | 11 | Citations (PDF) |
| 44 | Twins and Twinning 2013, , 1-20 | | 2 | Citations (PDF) |
| 45 | A mutation in <i>TGFB</i><i>3</i> associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys–dietz syndrome | 1.7 | 96 | Citations (PDF) |
| 46 | Uterine structural anomalies and arthrogryposis—death of an urban legend | 1.7 | 16 | Citations (PDF) |
| 47 | Failure to identify antenatal multiple congenital contractures and fetal akinesia – proposal of guidelines to improve diagnosis | 2.6 | 71 | Citations (PDF) |
| 48 | The smallest of the small | 2.4 | 6 | Citations (PDF) |
| 49 | Elements of morphology: General terms for congenital anomalies | 1.7 | 124 | Citations (PDF) |
| 50 | Trajectory of an Academic Career | 6.9 | 6 | Citations (PDF) |
| 51 | Pretibial linear vertical creases or indentations (shin dimples) associated with arthrogryposis | 1.7 | 9 | Citations (PDF) |
| 52 | The role of patient advocacy/parent support groups | 0.8 | 18 | Citations (PDF) |
| 53 | Special section. Syndrome‐specific growth charts | 1.7 | 11 | Citations (PDF) |
| 54 | Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy | 1.7 | 16 | Citations (PDF) |
| 55 | We are failing to identify disorders of fetal movement – why? | 2.6 | 10 | Citations (PDF) |
| 56 | Over the years, I hope I've learned a few things to pass along! | 0.6 | 0 | Citations (PDF) |
| 57 | Importance of Muscle Movement for Normal Craniofacial Development | 0.9 | 21 | Citations (PDF) |
| 58 | Review and hypothesis: Syndromes with severe intrauterine growth restriction and very short stature—Are they related to the epigenetic mechanism(s) of fetal survival involved in the developmental origins of adult health and disease? | 1.7 | 29 | Citations (PDF) |
| 59 | New palpebral fissure measurements | 1.7 | 6 | Citations (PDF) |
| 60 | Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding | 1.6 | 135 | Citations (PDF) |
| 61 | Elements of morphology: Standard terminology for the nose and philtrum | 1.7 | 79 | Citations (PDF) |
| 62 | Pena‐Shokeir phenotype (Fetal akinesia deformation sequence) revisited | 1.6 | 101 | Citations (PDF) |
| 63 | Ambulatory Activity in Youth With Arthrogryposis | 1.4 | 42 | Citations (PDF) |
| 64 | 50 Years Ago in The Journal of Pediatrics | 2.0 | 0 | Citations (PDF) |
| 65 | Letter to the Editors | 2.2 | 0 | Citations (PDF) |
| 66 | Victor A. McKusick, M.D.: A legend in his own time | 2.2 | 1 | Citations (PDF) |
| 67 | Localized acalvaria with craniosynostosis | 0.8 | 2 | Citations (PDF) |
| 68 | Arthrogryposis Multiplex Congenita (Amyoplasia) | 1.4 | 148 | Citations (PDF) |
| 69 | Achondroplasia | 14.8 | 517 | Citations (PDF) |
| 70 | Festschrift reflection | 1.7 | 0 | Citations (PDF) |
| 71 | Re: Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies [Brancati et al., 2005: Am J Med Genet 139A:212–215] | 1.7 | 4 | Citations (PDF) |
| 72 | A meeting of minds: interdisciplinary research in the health sciences in Canada | 1.4 | 71 | Citations (PDF) |
| 73 | Re: Distal arthrogryposis in two sisters born to different fathers [Hwu et al. 2004. Am J Med Genet 125A:100-101.] | 1.7 | 5 | Citations (PDF) |
| 74 | Re: Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies [Kantaputra et al. 2004. Am J Med Genet 130A:181-190] | 1.7 | 3 | Citations (PDF) |
| 75 | A syndrome characterized by contractures and pterygia of upper body associated with umbilical hernia, short stature, and distinctive face in an Arabic family | 1.7 | 7 | Citations (PDF) |
| 76 | The Challenge of Developing Career Pathways for Senior Academic Pediatricians | 2.4 | 24 | Citations (PDF) |
| 77 | Health Supervision for Children With Achondroplasia | 4.0 | 199 | Citations (PDF) |
| 78 | Introductory Speech for Robert J. Gorlin* | 6.5 | 0 | Citations (PDF) |
| 79 | Pediatricians beware: The age of ARTs is upon us | 2.0 | 8 | Citations (PDF) |
| 80 | Epigenetics is Here to Stay | 2.0 | 4 | Citations (PDF) |
| 81 | PRIMARY DISORDERS OF BONE AND CONNECTIVE TISSUES 2005, , 744-765 | | 0 | Citations (PDF) |
| 82 | How is the progress in genetics relevant to children's health care | 0.6 | 2 | Citations (PDF) |
| 83 | Arthrogryposis multiplex and related congenital disorders | 0.0 | 0 | Citations (PDF) |
| 84 | Long-term follow-up of three individuals with Kabuki syndrome | 2.2 | 17 | Citations (PDF) |
| 85 | RE: Segmental neurofibromatosis in childhood [Listernick et al., 2003: Am. J. Med. Genet. 121A:132-135.] | 2.2 | 0 | Citations (PDF) |
| 86 | Behavioral pattern profile: A tool for the description of behavior to be used in the genetics clinic | 2.2 | 5 | Citations (PDF) |
| 87 | Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings | 1.7 | 145 | Citations (PDF) |
| 88 | Re: Down syndrome and folic acid deficiency | 2.2 | 2 | Citations (PDF) |
| 89 | Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis | 0.8 | 14 | Citations (PDF) |
| 90 | Morphogenesis: clinical natural history and imaging information on patients included in reports | 2.0 | 3 | Citations (PDF) |
| 91 | Poland anomaly?report of an unusual family | 2.2 | 23 | Citations (PDF) |
| 92 | Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports | 2.2 | 5 | Citations (PDF) |
| 93 | A clinician's plea | 26.1 | 38 | Citations (PDF) |
| 94 | Twinning | 14.8 | 618 | Citations (PDF) |
| 95 | So you think your mother is always looking over your shoulder?—She may be in your shoulder! | 2.0 | 8 | Citations (PDF) |
| 96 | American Pediatric Society Presidential Address 2002: The Third Third | 2.4 | 4 | Citations (PDF) |
| 97 | Another adult with Meier-Gorlin syndrome ??? insights into the natural history | 0.8 | 5 | Citations (PDF) |
| 98 | Another adult with Meier-Gorlin syndrome - insights into the natural history | 0.8 | 17 | Citations (PDF) |
| 99 | Don't use the term ?amyoplasia? loosely | 2.2 | 5 | Citations (PDF) |
| 100 | Detection of Y-specific sequences in patients with Turner syndrome | 2.2 | 8 | Citations (PDF) |
| 101 | Clinical and radiologic information or photographs | 2.0 | 1 | Citations (PDF) |
| 102 | Paediatrician Resource Survey: Preliminary results suggest some urgency | 0.6 | 3 | Citations (PDF) |
| 103 | When is careless conception a form of child abuse? Lessons from maternal phenylketonuria | 2.0 | 5 | Citations (PDF) |
| 104 | U-P- What? | 2.0 | 2 | Citations (PDF) |
| 105 | See One, Do One, Teach One | 4.0 | 8 | Citations (PDF) |
| 106 | Human Diseases and Genomic Imprinting | 0.0 | 7 | Citations (PDF) |
| 107 | Genetics of neural tube defects | 3.6 | 32 | Citations (PDF) |
| 108 | A bone is not a bone is not a bone | 2.0 | 3 | Citations (PDF) |
| 109 | The Impact of Birth Defects and Genetic Diseases | 4.1 | 17 | Citations (PDF) |
| 110 | Arthrogryposis Multiplex Congenita | 0.8 | 285 | Citations (PDF) |
| 111 | Terathanasia, folic acid, and birth defects | 14.8 | 13 | Citations (PDF) |
| 112 | Give the embryo a chance | 36.5 | 1 | Citations (PDF) |
| 113 | Mosaicism in pseudoachondroplasia | 2.2 | 42 | Citations (PDF) |
| 114 | Twinning: mechanisms and genetic implications | 3.5 | 99 | Citations (PDF) |
| 115 | Twins and twinning 1996, 61, 202-204 | | 88 | Citations (PDF) |
| 116 | Arthrogryposis associated with unsuccessful attempts at termination of pregnancy 1996, 63, 293-300 | | 39 | Citations (PDF) |
| 117 | Syndrome of multiple epiphyseal dysplasia (ribbing type) with rhizomelic shortness, cleft palate, and micrognathia in two unrelated patients | 2.2 | 3 | Citations (PDF) |
| 118 | Segregation analysis of microcephaly 1996, 65, 226-234 | | 6 | Citations (PDF) |
| 119 | Medial-Approach Open Reduction of Hip Dislocation in Amyoplasia-Type Arthrogryposis | 1.4 | 18 | Citations (PDF) |
| 120 | Medial-Approach Open Reduction of Hip Dislocation in Amyoplasia-Type Arthrogryposis | 1.4 | 53 | Citations (PDF) |
| 121 | Dominant distal arthrogryposis in a Maori family with marked variability of expression | 2.2 | 29 | Citations (PDF) |
| 122 | Recommendations for Diagnosis, Treatment, and Management of Individuals with Turner Syndrome 1994, 4, 351-358 | | 57 | Citations (PDF) |
| 123 | Genomic imprinting: Summary of an NICHD conference | 2.2 | 17 | Citations (PDF) |
| 124 | Evidence for multi‐site closure of the neural tube in humans | 2.2 | 379 | Citations (PDF) |
| 125 | Genomic Imprinting and Its Clinical Implications | 25.1 | 40 | Citations (PDF) |
| 126 | Preface | 1.5 | 0 | Citations (PDF) |
| 127 | Nontraditional Inheritance | 1.5 | 13 | Citations (PDF) |
| 128 | Fellowships and Career Development in Dysmorphology and Clinical Genetics | 1.5 | 3 | Citations (PDF) |
| 129 | Fetal hypokinesia sequence caused by maternal autoimmune disorder? | 2.2 | 8 | Citations (PDF) |
| 130 | Genomic imprinting | 3.5 | 19 | Citations (PDF) |
| 131 | The New Genetics and Its Relevance to Orthopedics | 1.7 | 0 | Citations (PDF) |
| 132 | Neurofibromatosis I: Predicting the relation of gene structure to gene function | 2.2 | 9 | Citations (PDF) |
| 133 | Syndrome of mental retardation and distal arthrogryposis in sibs | 2.2 | 6 | Citations (PDF) |
| 134 | Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion | 3.1 | 52 | Citations (PDF) |
| 135 | Turner Syndrome and Its Variants | 1.5 | 143 | Citations (PDF) |
| 136 | Three-generation dominant transmission of the Silver-Russell syndrome | 2.2 | 90 | Citations (PDF) |
| 137 | Familial renal hypophosphatemia, minor facial anomalies, intracerebral calcifications, and non-rachitic bone changes: Apparently new syndrome? | 2.2 | 8 | Citations (PDF) |
| 138 | Could acrocallosal syndrome and Greig syndrome affect the same developmental gene? | 2.2 | 5 | Citations (PDF) |
| 139 | Partial expression of Angelman syndrome in mother most likely to be due to mosaicism involving both somatic and germline cells | 2.2 | 2 | Citations (PDF) |
| 140 | Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome | 2.2 | 41 | Citations (PDF) |
| 141 | A sibship with Roberts/SC phocomelia syndrome | 2.2 | 14 | Citations (PDF) |
| 142 | Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs | 2.2 | 17 | Citations (PDF) |
| 143 | Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction | 2.0 | 27 | Citations (PDF) |
| 144 | How imprinting is relevant to human disease | 3.0 | 19 | Citations (PDF) |
| 145 | De novo reciprocal 1p;2q translocation in a child with multiple congenital anomalies/mental retardation syndrome | 2.2 | 4 | Citations (PDF) |
| 146 | Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome | 2.2 | 60 | Citations (PDF) |
| 147 | Congenital shortness of the costocoracoid ligament | 2.2 | 6 | Citations (PDF) |
| 148 | Perinatal and first year follow‐up of patients with Prader‐Willi syndrome: normal size of hands and feet | 2.2 | 16 | Citations (PDF) |
| 149 | An unusual bandlike web in an infant with lethal multiple pterygium syndrome | 2.2 | 12 | Citations (PDF) |
| 150 | Bleeding diathesis in Noonan syndrome: A common association | 2.2 | 78 | Citations (PDF) |
| 151 | Congenital abnormalities in two sibs exposed to valproic acid in utero | 2.2 | 16 | Citations (PDF) |
| 152 | Juvenile galactosialidosis in a white male: A new variant | 2.2 | 17 | Citations (PDF) |
| 153 | Comments on “amyoplasia congenita-like condition and maternal malathion exposure”: Is all amyoplasia amyoplasia? | 1.7 | 5 | Citations (PDF) |
| 154 | Kyphosis in achondroplasia: Probably preventable | 2.0 | 33 | Citations (PDF) |
| 155 | Familial limb deficiency | 2.2 | 8 | Citations (PDF) |
| 156 | Mild expression of the Pfeiffer syndrome | 2.2 | 2 | Citations (PDF) |
| 157 | The Natural History of Achondroplasia 1988, , 3-9 | | 42 | Citations (PDF) |
| 158 | Lymphedema in Noonan syndrome: Clues to pathogenesis and prenatal diagnosis and review of the literature | 2.2 | 134 | Citations (PDF) |
| 159 | Gonadal mosaicism in pseudoachondroplasia | 2.2 | 69 | Citations (PDF) |
| 160 | Thanatophoric dysplasia and cloverleaf skull | 2.2 | 101 | Citations (PDF) |
| 161 | Familial breast cancer in males:A case report and review of the literature | 4.3 | 40 | Citations (PDF) |
| 162 | Analysis of Pena Shokeir phenotype | 2.2 | 169 | Citations (PDF) |
| 163 | Studies of human achondroplasia: Oxidative metabolism in tissue culture cells | 1.7 | 9 | Citations (PDF) |
| 164 | Genetic Counseling | 7.3 | 0 | Citations (PDF) |
| 165 | Growth curves for height in Noonan syndrome | 2.2 | 104 | Citations (PDF) |
| 166 | Prenatal Detection of Connective Tissue Disorders 1986, , 701-721 | | 0 | Citations (PDF) |
| 167 | Genetic Aspects of Arthrogryposis | 1.7 | 85 | Citations (PDF) |
| 168 | Familial multiple exostoses—no chromosome 8 deletion observed | 2.2 | 8 | Citations (PDF) |
| 169 | Medical Genetics | 7.3 | 1 | Citations (PDF) |
| 170 | Partial deletion of the short arm of chromosome 3 (3p25 → 3pter) Further delineation of the clinical phenotype | 2.2 | 21 | Citations (PDF) |
| 171 | The lethal multiple pterygium syndromes | 2.2 | 112 | Citations (PDF) |
| 172 | Achondroplasia: Unexpected familial recurrence | 2.2 | 32 | Citations (PDF) |
| 173 | Vitamin A: A newly recognized human teratogen. Harbinger of things to come? | 2.0 | 35 | Citations (PDF) |
| 174 | Apnea and sudden unexpected death in infants with achondroplasia | 2.0 | 195 | Citations (PDF) |
| 175 | Prenatal diagnosis of genetic osteochondrodysplasias | 2.2 | 6 | Citations (PDF) |
| 176 | Association between age of onset and parental inheritance in Huntington chorea | 2.2 | 13 | Citations (PDF) |
| 177 | Neuropathologic findings in the spinal cords of 10 infants with arthrogryposis | 0.8 | 59 | Citations (PDF) |
| 178 | Limb pterygium syndromes: A review and report of eleven patients | 2.2 | 173 | Citations (PDF) |
| 179 | Head growth in achondroplasia: Use of ultrasound studies | 2.2 | 12 | Citations (PDF) |
| 180 | Kaufman syndrome | 2.2 | 5 | Citations (PDF) |
| 181 | Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1→q24 in different offspring | 2.2 | 41 | Citations (PDF) |
| 182 | Comments on the Neu-Laxova syndrome and CAD complex | 2.2 | 46 | Citations (PDF) |
| 183 | Prometaphase chromosomes in five patients with the Brachmann-de Lange syndrome | 2.2 | 25 | Citations (PDF) |
| 184 | Cerebroarthrodigital syndrome: A newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, brain malformation and digital hypoplasia | 2.2 | 36 | Citations (PDF) |
| 185 | Genetic counseling for adoptees at risk for specific inherited disorders | 2.2 | 8 | Citations (PDF) |
| 186 | Endocardial fibroelastosis, neurologic dysfunction and unusual facial appearance in two brothers, coincidentally associated with dominantly inherited macrocephaly | 2.2 | 5 | Citations (PDF) |
| 187 | Autosomal recessive acrocephalosyndactyly revisited | 2.2 | 5 | Citations (PDF) |
| 188 | Autosomal-dominant inheritance of distal arthrogryposis | 2.2 | 18 | Citations (PDF) |
| 189 | Gardner syndrome and periampullary malignancy | 2.2 | 76 | Citations (PDF) |
| 190 | Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part II: Neuropathological considerations | 2.2 | 97 | Citations (PDF) |
| 191 | Prenatal genetic diagnosis and elective abortion in women over 35: Utilization and relative impact on the birth prevalence of Down syndrome in Washington State | 2.2 | 23 | Citations (PDF) |
| 192 | Lower limb anomalies in the thrombocytopenia absent-radius (TAR) syndrome | 2.2 | 23 | Citations (PDF) |
| 193 | Rothmund-Thomson Syndrome With Severe Dwarfism | 4.1 | 9 | Citations (PDF) |
| 194 | Prenatal Diagnosis of Congenital Bullous Ichthyosiform Erythroderma (Epidermolytic Hyperkeratosis) by Fetal Skin Biopsy | 25.1 | 103 | Citations (PDF) |
| 195 | Risks of anticoagulation during pregnancy | 2.9 | 15 | Citations (PDF) |
| 196 | Maternal and fetal sequelae of anticoagulation during pregnancy | 1.9 | 1,003 | Citations (PDF) |
| 197 | X-Linked Cutis Laxa | 25.1 | 213 | Citations (PDF) |
| 198 | The summitt syndrome: Observations on a third case | 2.2 | 5 | Citations (PDF) |
| 199 | Frequency and characteristics of birth defects admissions to a pediatric hospital in Venezuela | 2.2 | 17 | Citations (PDF) |
| 200 | Failure of early prenatal diagnosis in classic achondroplasia | 2.2 | 12 | Citations (PDF) |
| 201 | Fibrodysplasia ossificans progressiva (myositis ossificans progressiva) treatment with disodium etidronate | 2.0 | 8 | Citations (PDF) |
| 202 | An autosomal dominantly inherited syndrome of facial asymmetry, esotropia, amblyopia, and submucous cleft palate (Bencze syndrome) | 2.2 | 7 | Citations (PDF) |
| 203 | No evidence for chromosomal mosaicism in multiple tissues of 10 patients with 45 XO Turner syndrome | 2.2 | 9 | Citations (PDF) |
| 204 | Isolated congenital ectopia lentis with autosomal dominant inheritance | 2.2 | 16 | Citations (PDF) |
| 205 | A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils | 3.1 | 28 | Citations (PDF) |
| 206 | The frequency and financial burden of genetic disease in a pediatric hospital | 2.2 | 105 | Citations (PDF) |
| 207 | The phenotypic variability of diastrophic dysplasia | 2.0 | 71 | Citations (PDF) |
| 208 | Standard growth curves for achondroplasia | 2.0 | 279 | Citations (PDF) |
| 209 | Children of Incest: When To Suspect and How To Evaluate? | 4.1 | 2 | Citations (PDF) |
| 210 | Microphallus, Growth Hormone Deficiency, and Hypoglycemia in Russell-Silver Syndrome | 4.1 | 8 | Citations (PDF) |
| 211 | Additional information on familial essential (benign) chorea | 2.2 | 6 | Citations (PDF) |
| 212 | The 2p Partial Trisomy Syndrome | 4.1 | 1 | Citations (PDF) |
| 213 | Multiple congenital anomalies associated with oral anticoagulants | 1.3 | 137 | Citations (PDF) |
| 214 | A lethal neonatal dwarfing condition with short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect | 1.7 | 22 | Citations (PDF) |
| 215 | Acromesomelic dwarfism: Manifestations in childhood | 2.2 | 35 | Citations (PDF) |
| 216 | Warfarin and Fetal Abnormality: Reply | 14.8 | 18 | Citations (PDF) |
| 217 | Chromosome 7 short arm deletion and craniosynostosis a 7p-syndrome | 3.1 | 45 | Citations (PDF) |
| 218 | Dominantly inherited ptosis, strabismus and ectopic pupils | 2.2 | 7 | Citations (PDF) |
| 219 | A New Arthrogryposis Syndrome With Facial and Limb Anomalies | 4.1 | 3 | Citations (PDF) |
| 220 | The Jeune syndrome (asphyxiating thoracic dystrophy) in an adult | 1.9 | 43 | Citations (PDF) |
| 221 | A pattern of craniofacial and limb defects secondary to aberrant tissue bands | 2.0 | 115 | Citations (PDF) |
| 222 | DIASTROPHIC DWARFISM | 1.3 | 95 | Citations (PDF) |
| 223 | THROMBOCYTOPENIA WITH ABSENT RADIUS (TAR) | 1.3 | 288 | Citations (PDF) |
