Predominance of null mutations in ataxia-telangiectasia | Human Molecular Genetics | 1996 | 201 |
Genomic Organization of the ATM gene | Genomics | 1996 | 142 |
Activation of m1 muscarinic acetylcholine receptor regulates tau phosphorylation in transfected PC12 cells | Journal of Neurochemistry | 1996 | 111 |
Ataxia-telangiectasia: founder effect among north African Jews | Human Molecular Genetics | 1996 | 79 |
Ataxia-telangiectasia and the ATM gene: linking neurodegeneration, immunodeficiency, and cancer to cell cycle checkpoints | Journal of Clinical Immunology | 1996 | 73 |
The role of calpastatin (the specific calpain inhibitor) in myoblast differentiation and fusion | Biochemical and Biophysical Research Communications | 1996 | 64 |
Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3 | American Journal of Human Genetics | 1996 | 63 |
The ATM gene and the radiobiology of ataxia-telangiectasia | International Journal of Radiation Biology | 1996 | 58 |
DRD2 haplotypes containing the TaqI A1 allele: implications for alcoholism research | Alcoholism: Clinical and Experimental Research | 1996 | 55 |
Phosphotyrosine phosphatase associated with band 3 protein in the human erythrocyte membrane | Biochemical Journal | 1996 | 51 |
A human gene (DDX10) encoding a putative DEAD-box RNA helicase at 11q22-q23 | Genomics | 1996 | 47 |
Identification and chromosomal localization of Atm, the mouse homolog of the ataxia-telangiectasia gene | Genomics | 1996 | 43 |
A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease | Human Genetics | 1996 | 36 |
Ala244Val Is a Common, Probably Ancient Mutation Causing Factor VII Deficiency in Moroccan and Iranian Jews | Thrombosis and Haemostasis | 1996 | 27 |
Prenatal ultrasonographic diagnosis of fetal hepatic hyperechogenicities: clinical significance and implications for management | Ultrasound in Obstetrics and Gynecology | 1996 | 19 |
Temperature rhythm of patients with major affective disorders: reduced circadian period length | Chronobiology International | 1996 | 19 |
Rhythmicity of luteinizing hormone secretion expressed in vitro | European Journal of Endocrinology | 1996 | 16 |
The pattern of hormonal circadian time structure (acrophase) as an assessor of breast-cancer risk | International Journal of Cancer | 1996 | 15 |
Second-trimester ultrasonographic diagnosis of segmental vertebral abnormalities associated with neurological deficit: a possible new variant of occult spinal dysraphism | Prenatal Diagnosis | 1996 | 7 |
Circannual pattern of autistic births: reanalysis in three ethnic groups | Human Biology | 1996 | 5 |
Ethnic origin and maternal serum markers of Down syndrome in Israel | Prenatal Diagnosis | 1996 | 3 |
Two types of growth hormone rhythm in boys with constitutional short stature | Journal of Pediatric Endocrinology and Metabolism | 1996 | 2 |
Assignment of the human prosaposin gene (PSAP) to 10q22.1 by fluorescence in situ hybridization. Giraffidae, okapi (Okapiajohnstoni), and giraffe (Giraffa camelopardalis): evidence for ancestral telomeres at the okapi polymorphic rob (4;26) fusion site | Cytogenetic and Genome Research | 1996 | 2 |