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G Mehta

Showing results (381-390 of 402) with videos related to

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Journal of Medical Genetics|November 29, 2012
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresiaChristopher T Gordon, Florence Petit, Myriam Oufadem, et al.
Brain : a Journal of Neurology|October 4, 2017
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephalyDiana Alcantara, Andrew E Timms, Karen Gripp, et al.
Journal of Medical Genetics|March 26, 2018
Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspringMatthias Begemann, Faisal I Rezwan, Jasmin Beygo, et al.
European Journal of Human Genetics : EJHG|November 29, 2017
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patientsStéphanie Moortgat, Siren Berland, Ingvild Aukrust, et al.
American Journal of Human Genetics|June 19, 2026
De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanismsRebecca Fluri, Mireia Coll-Tané, Theresa Brunet, et al.
Human Mutation|February 3, 2018
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3Dorien Schepers, Giada Tortora, Hiroko Morisaki, et al.
American Journal of Human Genetics|September 26, 2017
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic FeaturesPaweł Stankiewicz, Tahir N Khan, Przemyslaw Szafranski, et al.
Science (New York, N.Y.)|November 10, 2018
Quantifying the contribution of recessive coding variation to developmental disordersHilary C Martin, Wendy D Jones, Rebecca McIntyre, et al.
American Journal of Human Genetics|February 29, 2020
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental DisordersSónia Barbosa, Stephanie Greville-Heygate, Maxime Bonnet, et al.
Clinical Genetics|May 11, 2023
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrumAlessandra Rossi, Lot Snijders Blok, Sonja Neuser, et al.
Pageof 41

Showing results (381-390 of 402) with videos related to

Sort By:
Pageof 41
Journal of Medical Genetics|November 29, 2012
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresiaChristopher T Gordon, Florence Petit, Myriam Oufadem, et al.
Brain : a Journal of Neurology|October 4, 2017
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephalyDiana Alcantara, Andrew E Timms, Karen Gripp, et al.
Journal of Medical Genetics|March 26, 2018
Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspringMatthias Begemann, Faisal I Rezwan, Jasmin Beygo, et al.
European Journal of Human Genetics : EJHG|November 29, 2017
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patientsStéphanie Moortgat, Siren Berland, Ingvild Aukrust, et al.
American Journal of Human Genetics|June 19, 2026
De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanismsRebecca Fluri, Mireia Coll-Tané, Theresa Brunet, et al.
Human Mutation|February 3, 2018
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3Dorien Schepers, Giada Tortora, Hiroko Morisaki, et al.
American Journal of Human Genetics|September 26, 2017
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic FeaturesPaweł Stankiewicz, Tahir N Khan, Przemyslaw Szafranski, et al.
Science (New York, N.Y.)|November 10, 2018
Quantifying the contribution of recessive coding variation to developmental disordersHilary C Martin, Wendy D Jones, Rebecca McIntyre, et al.
American Journal of Human Genetics|February 29, 2020
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental DisordersSónia Barbosa, Stephanie Greville-Heygate, Maxime Bonnet, et al.
Clinical Genetics|May 11, 2023
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrumAlessandra Rossi, Lot Snijders Blok, Sonja Neuser, et al.
Pageof 41