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Jacek Majewski

Showing results (141-150 of 333) with videos related to

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American Journal of Human Genetics|February 17, 2015
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HBFrank Rauch, Somayyeh Fahiminiya, Jacek Majewski, et al.
Cell Reports|November 3, 2021
Inherent genomic properties underlie the epigenomic heterogeneity of human induced pluripotent stem cellsShihori Yokobayashi, Yukihiro Yabuta, Masato Nakagawa, et al.
Muscle & Nerve|March 12, 2014
Mutations in riboflavin transporter present with severe sensory loss and deafness in childhoodMyriam Srour, Maria Lisa Putorti, Jeremy Schwartzentruber, et al.
Molecular Genetics and Metabolism|November 13, 2012
Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencingJaeseung C Kim, Ni-Chung Lee, Paul Wuh-Liang Hwu, et al.
Journal of Medical Genetics|December 15, 2012
Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patientsFrank Rauch, Pierre Moffatt, Moira Cheung, et al.
BMC Bioinformatics|August 27, 2024
ARGV: 3D genome structure exploration using augmented realityChrisostomos Drogaris, Yanlin Zhang, Eric Zhang, et al.
Journal of Medical Genetics|August 25, 2011
A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencingJacek Majewski, Zibo Wang, Irma Lopez, et al.
Journal of Child Neurology|November 30, 2018
Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative DiseaseAndrea Accogli, Kether Guerrero, Maria Daniela D'Agostino, et al.
Human Molecular Genetics|September 22, 2017
SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activationDiana Alcantara, Frances Elmslie, Martine Tetreault, et al.
European Journal of Human Genetics : EJHG|April 26, 2018
Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform molesJianHua Qian, Ngoc Minh Phuong Nguyen, Maryam Rezaei, et al.
Pageof 34

Showing results (141-150 of 333) with videos related to

Sort By:
Pageof 34
American Journal of Human Genetics|February 17, 2015
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HBFrank Rauch, Somayyeh Fahiminiya, Jacek Majewski, et al.
Cell Reports|November 3, 2021
Inherent genomic properties underlie the epigenomic heterogeneity of human induced pluripotent stem cellsShihori Yokobayashi, Yukihiro Yabuta, Masato Nakagawa, et al.
Muscle & Nerve|March 12, 2014
Mutations in riboflavin transporter present with severe sensory loss and deafness in childhoodMyriam Srour, Maria Lisa Putorti, Jeremy Schwartzentruber, et al.
Molecular Genetics and Metabolism|November 13, 2012
Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencingJaeseung C Kim, Ni-Chung Lee, Paul Wuh-Liang Hwu, et al.
Journal of Medical Genetics|December 15, 2012
Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patientsFrank Rauch, Pierre Moffatt, Moira Cheung, et al.
BMC Bioinformatics|August 27, 2024
ARGV: 3D genome structure exploration using augmented realityChrisostomos Drogaris, Yanlin Zhang, Eric Zhang, et al.
Journal of Medical Genetics|August 25, 2011
A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencingJacek Majewski, Zibo Wang, Irma Lopez, et al.
Journal of Child Neurology|November 30, 2018
Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative DiseaseAndrea Accogli, Kether Guerrero, Maria Daniela D'Agostino, et al.
Human Molecular Genetics|September 22, 2017
SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activationDiana Alcantara, Frances Elmslie, Martine Tetreault, et al.
European Journal of Human Genetics : EJHG|April 26, 2018
Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform molesJianHua Qian, Ngoc Minh Phuong Nguyen, Maryam Rezaei, et al.
Pageof 34