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Section of Medical and Molecular Genetics
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top-articles
Section of Medical and Molecular Genetics
16
(top 5%)
papers
442
(top 2%)
citations
10
(top 2%)
h
-index
14
(top 5%)
g
-index
18
all documents
455
doc citations
233
citing journals
Top Articles
#
Title
Journal
Year
Citations
1
Elements of morphology: Standard terminology for the head and face
American Journal of Medical Genetics, Part A
2009
145
2
Cardiovascular malformations in Smith-Lemli-Opitz syndrome
1997
73
3
Altered expression of caveolin-1 and increased cholesterol in detergent insoluble membrane fractions from liver in mice with Niemann–Pick disease type C
Biochimica Et Biophysica Acta - Molecular Basis of Disease
1997
53
4
The Npc1 mutation causes an altered expression of caveolin-1, annexin II and protein kinases and phosphorylation of caveolin-1 and annexin II in murine livers
Biochimica Et Biophysica Acta - Molecular Basis of Disease
1999
32
5
Increased Expression of Caveolin-1 in Heterozygous Niemann-Pick Type II Human Fibroblasts
Biochemical and Biophysical Research Communications
1997
29
6
Diffusion Tensor Imaging in Niemann-Pick Type C Disease
Pediatric Neurology
2005
24
7
Six patients with oral-facial-digital syndrome IV: The case for heterogeneity
American Journal of Medical Genetics Part A
1997
23
8
Mosaic tetrasomy 12p with triplication of 12p detected by array‐based comparative genomic hybridization of peripheral blood DNA
American Journal of Medical Genetics, Part A
2007
17
9
Distal arthrogryposis type IIB: Further clinical delineation and 54-year follow-up of an index case
American Journal of Medical Genetics Part A
1995
14
10
High-resolution mapping of the spm (niemann-pick type C) locus on mouse chromosome 18
Mammalian Genome
1997
14
11
The role of multiple drug resistance proteins in fetal and/or placental protection against teratogen-induced orofacial clefting
Molecular Reproduction and Development
2007
10
12
Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature
Journal of Applied Genetics
2009
9
13
The Niemann–Pick C1 protein in feline fibroblasts
Molecular Genetics and Metabolism
2002
6
14
Cardiovascular malformations in Smith‐Lemli‐Opitz syndrome
American Journal of Medical Genetics Part A
1997
4
15
Six patients with oral‐facial‐digital syndrome IV: The case for heterogeneity
American Journal of Medical Genetics Part A
1997
1
16
A new chromosome anomaly in a patient with apparent C (trigonocephaly) syndrome
American Journal of Medical Genetics, Part A
2007
0
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