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American Journal of Medical Genetics. Part A|October 7, 2011
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrumDaniel E Pineda-Alvarez, Benjamin D Solomon, Erich Roessler, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 28, 2010
Analysis of genotype-phenotype correlations in human holoprosencephalyBenjamin D Solomon, Sandra Mercier, Jorge I Vélez, et al.
Molecular Genetics and Metabolism|September 12, 2006
Functional analysis of mutations in TGIF associated with holoprosencephalyKenia B El-Jaick, Shannon E Powers, Laurent Bartholin, et al.
Human Molecular Genetics|March 3, 2016
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndromeSungkook Hong, Ping Hu, Juliana Marino, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 29, 2003
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like featuresErich Roessler, Yang-Zhu Du, Jose L Mullor, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|April 19, 2011
Developmentally arrested structures preceding cerebellar tumors in von Hippel-Lindau diseaseSharon B Shively, Eric A Falke, Jie Li, et al.
American Journal of Human Genetics|June 10, 2008
Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephalyErich Roessler, Maia V Ouspenskaia, Jayaprakash D Karkera, et al.
Congenital Anomalies|July 4, 2017
SIX3 deletions and incomplete penetrance in families affected by holoprosencephalyBethany Stokes, Seth I Berger, Beth A Hall, et al.
European Journal of Medical Genetics|July 4, 2012
GWAS reveals new recessive loci associated with non-syndromic facial cleftingMauricio Camargo, Dora Rivera, Lina Moreno, et al.
Plos One|August 4, 2012
Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephalyErich Roessler, Ping Hu, Sung-Kook Hong, et al.
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