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AHDC1 gene
Known as:
DJ159A19.3
, AT-HOOK DNA-BINDING MOTIF-CONTAINING PROTEIN 1
, AHDC1
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National Institutes of Health
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Biological significance of genome‐wide DNA methylation profiles in keloids
Lamont R Jones
,
Joshua Greene
,
+5 authors
M. Worsham
The Laryngoscope
2017
Corpus ID: 21184108
To obtain biological insight into keloid pathogenesis and treatment using pathway analysis of genome‐wide differentially…
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Highly Cited
2017
Highly Cited
2017
Exome Pool-Seq in neurodevelopmental disorders
B. Popp
,
A. Ekici
,
+5 authors
C. Zweier
European Journal of Human Genetics
2017
Corpus ID: 4377566
High throughput sequencing has greatly advanced disease gene identification, especially in heterogeneous entities. Despite…
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2017
2017
Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1
Hae-Yeon Park
,
Myungshin Kim
,
Woori Jang
,
D. Jang
Annals of Laboratory Medicine
2017
Corpus ID: 30005431
Hae-Yeon Park, M.D., Myungshin Kim, M.D., Woori Jang, M.D., and Dae-Hyun Jang, M.D. Department of Rehabilitation Medicine…
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Highly Cited
2016
Highly Cited
2016
Novel genetic causes for cerebral visual impairment
Daniëlle G. M. Bosch
,
F. Boonstra
,
+8 authors
B. D. de Vries
European Journal of Human Genetics
2016
Corpus ID: 6206346
Cerebral visual impairment (CVI) is a major cause of low vision in children due to impairment in projection and/or interpretation…
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Highly Cited
2015
Highly Cited
2015
MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus
F. Quintero-Rivera
,
Qiongchao J. Xi
,
+19 authors
R. Maas
Human Molecular Genetics
2015
Corpus ID: 15550425
Cardiac left ventricular outflow tract (LVOT) defects represent a common but heterogeneous subset of congenital heart disease for…
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2015
2015
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay
Hui Yang
,
G. Douglas
,
+18 authors
W. Chung
Cold Spring Harbor molecular case studies
2015
Corpus ID: 9770272
Whole-exome sequencing (WES) represents a significant breakthrough in clinical genetics, and identifies a genetic etiology in up…
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Highly Cited
2014
Highly Cited
2014
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
F. Xia
,
M. Bainbridge
,
+21 authors
R. Gibbs
American Journal of Human Genetics
2014
Corpus ID: 4036765
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