Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

John M Graham

Showing results (181-190 of 208) with videos related to

Pageof 21
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2019
De novo and biallelic DEAF1 variants cause a phenotypic spectrumMaria J Nabais Sá, Philip J Jensik, Stacey R McGee, et al.
American Journal of Human Genetics|July 31, 2018
IRF2BPL Is Associated with Neurological PhenotypesPaul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
American Journal of Human Genetics|September 8, 2018
IRF2BPL Is Associated with Neurological PhenotypesPaul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
Nature Genetics|June 26, 2012
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesJean-Baptiste Rivière, Ghayda M Mirzaa, Brian J O'Roak, et al.
The Journal of Clinical Endocrinology and Metabolism|February 9, 2020
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a NoseAngela Delaney, Rita Volochayev, Brooke Meader, et al.
Molecular Genetics & Genomic Medicine|September 14, 2021
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanismsMegan Yabumoto, Jessica Kianmahd, Meghna Singh, et al.
American Journal of Human Genetics|April 15, 2014
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5Margaret J McMillin, Anita E Beck, Jessica X Chong, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2019
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literatureErin Torti, Boris Keren, Elizabeth E Palmer, et al.
American Journal of Medical Genetics. Part A|August 26, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, et al.
American Journal of Human Genetics|March 2, 2005
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsJennifer J Johnston, Isabelle Olivos-Glander, Christina Killoran, et al.
Pageof 21

Showing results (181-190 of 208) with videos related to

Sort By:
Pageof 21
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2019
De novo and biallelic DEAF1 variants cause a phenotypic spectrumMaria J Nabais Sá, Philip J Jensik, Stacey R McGee, et al.
American Journal of Human Genetics|July 31, 2018
IRF2BPL Is Associated with Neurological PhenotypesPaul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
American Journal of Human Genetics|September 8, 2018
IRF2BPL Is Associated with Neurological PhenotypesPaul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
Nature Genetics|June 26, 2012
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesJean-Baptiste Rivière, Ghayda M Mirzaa, Brian J O'Roak, et al.
The Journal of Clinical Endocrinology and Metabolism|February 9, 2020
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a NoseAngela Delaney, Rita Volochayev, Brooke Meader, et al.
Molecular Genetics & Genomic Medicine|September 14, 2021
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanismsMegan Yabumoto, Jessica Kianmahd, Meghna Singh, et al.
American Journal of Human Genetics|April 15, 2014
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5Margaret J McMillin, Anita E Beck, Jessica X Chong, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2019
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literatureErin Torti, Boris Keren, Elizabeth E Palmer, et al.
American Journal of Medical Genetics. Part A|August 26, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, et al.
American Journal of Human Genetics|March 2, 2005
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsJennifer J Johnston, Isabelle Olivos-Glander, Christina Killoran, et al.
Pageof 21