Showing results (21-30 of 49) with videos related to

Sort By:
Pageof 5
Human Genetics|August 16, 2011
Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHHDaniel E Pineda-Alvarez, Erich Roessler, Ping Hu, et al.
Human Mutation|July 6, 2017
BOC is a modifier gene in holoprosencephalyMingi Hong, Kshitij Srivastava, Sungjin Kim, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|August 1, 2012
Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohortLucilene A Ribeiro, Erich Roessler, Ping Hu, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 28, 2010
Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literatureEmily F Kauvar, Benjamin D Solomon, Cynthia J R Curry, et al.
Human Genetics|June 20, 2002
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defectsJune M de la Cruz, Richard N Bamford, Rebecca D Burdine, et al.
Human Molecular Genetics|September 16, 2008
Mutations in the human SIX3 gene in holoprosencephaly are loss of functionSabina Domené, Erich Roessler, Kenia B El-Jaick, et al.
American Journal of Medical Genetics. Part A|March 19, 2011
Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2Nilrat Wannasilp, Benjamin D Solomon, Nicole Warren-Mora, et al.
Nature Genetics|October 7, 2008
Regulation of a remote Shh forebrain enhancer by the Six3 homeoproteinYongsu Jeong, Federico Coluccio Leskow, Kenia El-Jaick, et al.
Human Genetics|April 10, 2002
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephalyJeffrey E Ming, Michelle E Kaupas, Erich Roessler, et al.
Human Mutation|January 30, 2009
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanismErich Roessler, Felicitas Lacbawan, Christèle Dubourg, et al.
Pageof 5