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Nicolas Chassaing

Showing results (71-80 of 101) with videos related to

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American Journal of Medical Genetics. Part A|August 4, 2021
Expanding the KIF4A-associated phenotypeSilvia Kalantari, Colleen Carlston, Norah Alsaleh, et al.
Journal of Medical Genetics|May 12, 2012
OTX2 mutations contribute to the otocephaly-dysgnathia complexNicolas Chassaing, Susanna Sorrentino, Erica E Davis, et al.
Human Genetics|July 6, 2018
Expanding the phenotype of the X-linked BCOR microphthalmia syndromesNicola Ragge, Bertrand Isidor, Pierre Bitoun, et al.
European Journal of Human Genetics : EJHG|September 5, 2019
School level of children carrying a HNF1B variant or a deletionFanny Laliève, Stéphane Decramer, Laurence Heidet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 28, 2020
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survivalMichael E Coulter, Damir Musaev, Ellen M DeGennaro, et al.
Human Mutation|October 30, 2013
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary ciliumSophie Thomas, Kevin J Wright, Stéphanie Le Corre, et al.
American Journal of Human Genetics|March 17, 2015
Submicroscopic deletions at 13q32.1 cause congenital microcoriaLucas Fares-Taie, Sylvie Gerber, Akihiko Tawara, et al.
Journal of Medical Genetics|July 5, 2022
Bi-allelic variants in <i>WNT7B</i> disrupt the development of multiple organs in humansSamir Bouasker, Nisha Patel, Rebecca Greenlees, et al.
Journal of Medical Genetics|September 29, 2011
Phenotypic spectrum associated with CASK loss-of-function mutationsUte Moog, Kerstin Kutsche, Fanny Kortüm, et al.
European Journal of Human Genetics : EJHG|November 3, 2016
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short statureSalima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, et al.
Pageof 11

Showing results (71-80 of 101) with videos related to

Sort By:
Pageof 11
American Journal of Medical Genetics. Part A|August 4, 2021
Expanding the KIF4A-associated phenotypeSilvia Kalantari, Colleen Carlston, Norah Alsaleh, et al.
Journal of Medical Genetics|May 12, 2012
OTX2 mutations contribute to the otocephaly-dysgnathia complexNicolas Chassaing, Susanna Sorrentino, Erica E Davis, et al.
Human Genetics|July 6, 2018
Expanding the phenotype of the X-linked BCOR microphthalmia syndromesNicola Ragge, Bertrand Isidor, Pierre Bitoun, et al.
European Journal of Human Genetics : EJHG|September 5, 2019
School level of children carrying a HNF1B variant or a deletionFanny Laliève, Stéphane Decramer, Laurence Heidet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 28, 2020
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survivalMichael E Coulter, Damir Musaev, Ellen M DeGennaro, et al.
Human Mutation|October 30, 2013
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary ciliumSophie Thomas, Kevin J Wright, Stéphanie Le Corre, et al.
American Journal of Human Genetics|March 17, 2015
Submicroscopic deletions at 13q32.1 cause congenital microcoriaLucas Fares-Taie, Sylvie Gerber, Akihiko Tawara, et al.
Journal of Medical Genetics|July 5, 2022
Bi-allelic variants in <i>WNT7B</i> disrupt the development of multiple organs in humansSamir Bouasker, Nisha Patel, Rebecca Greenlees, et al.
Journal of Medical Genetics|September 29, 2011
Phenotypic spectrum associated with CASK loss-of-function mutationsUte Moog, Kerstin Kutsche, Fanny Kortüm, et al.
European Journal of Human Genetics : EJHG|November 3, 2016
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short statureSalima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, et al.
Pageof 11