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Showing results (211-220 of 260) with videos related to

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American Journal of Human Genetics|August 1, 2024
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformationsSadegheh Haghshenas, Karim Karimi, Roger E Stevenson, et al.
Human Mutation|January 29, 2014
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patientsDaphné Lehalle, Christopher T Gordon, Myriam Oufadem, et al.
The Journal of Clinical Investigation|January 26, 2021
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humansThuy-Linh Le, Louise Galmiche, Jonathan Levy, et al.
American Journal of Human Genetics|March 17, 2015
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopeciaChristopher T Gordon, K Nicole Weaver, Roseli Maria Zechi-Ceide, et al.
Nature Genetics|October 6, 2015
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebratesAnne Guimier, George C Gabriel, Fanny Bajolle, et al.
HGG Advances|April 26, 2022
Variants in <i>PHF8</i> cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphologyAndrew K Sobering, Laura M Bryant, Dong Li, et al.
The Journal of Pediatrics|March 29, 2013
Clinical and molecular spectrum of renal malformations in Kabuki syndromeJean-Benoît Courcet, Laurence Faivre, Caroline Michot, et al.
Human Molecular Genetics|October 6, 2016
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung diseaseClara Sze-Man Tang, Hongsheng Gui, Ashish Kapoor, et al.
European Journal of Medical Genetics|August 13, 2013
Finger creases lend a hand in Kabuki syndromeCaroline Michot, Carole Corsini, Damien Sanlaville, et al.
Human Mutation|June 16, 2016
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2Nina Bögershausen, Vincent Gatinois, Vera Riehmer, et al.
Pageof 26

Showing results (211-220 of 260) with videos related to

Sort By:
Pageof 26
American Journal of Human Genetics|August 1, 2024
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformationsSadegheh Haghshenas, Karim Karimi, Roger E Stevenson, et al.
Human Mutation|January 29, 2014
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patientsDaphné Lehalle, Christopher T Gordon, Myriam Oufadem, et al.
The Journal of Clinical Investigation|January 26, 2021
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humansThuy-Linh Le, Louise Galmiche, Jonathan Levy, et al.
American Journal of Human Genetics|March 17, 2015
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopeciaChristopher T Gordon, K Nicole Weaver, Roseli Maria Zechi-Ceide, et al.
Nature Genetics|October 6, 2015
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebratesAnne Guimier, George C Gabriel, Fanny Bajolle, et al.
HGG Advances|April 26, 2022
Variants in <i>PHF8</i> cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphologyAndrew K Sobering, Laura M Bryant, Dong Li, et al.
The Journal of Pediatrics|March 29, 2013
Clinical and molecular spectrum of renal malformations in Kabuki syndromeJean-Benoît Courcet, Laurence Faivre, Caroline Michot, et al.
Human Molecular Genetics|October 6, 2016
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung diseaseClara Sze-Man Tang, Hongsheng Gui, Ashish Kapoor, et al.
European Journal of Medical Genetics|August 13, 2013
Finger creases lend a hand in Kabuki syndromeCaroline Michot, Carole Corsini, Damien Sanlaville, et al.
Human Mutation|June 16, 2016
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2Nina Bögershausen, Vincent Gatinois, Vera Riehmer, et al.
Pageof 26