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Jacek Majewski

Showing results (131-140 of 333) with videos related to

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BMC Cancer|March 26, 2013
Exome profiling of primary, metastatic and recurrent ovarian carcinomas in a BRCA1-positive patientJian Zhang, Yuhao Shi, Emilie Lalonde, et al.
American Journal of Medical Genetics. Part A|September 17, 2016
A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) geneMałgorzata J M Nowaczyk, Lijia Huang, Mark Tarnopolsky, et al.
Differentiation; Research in Biological Diversity|May 11, 2023
Sf3b4 regulates chromatin remodeler splicing and Hox expressionShruti Kumar, Sabrina Shameen Alam, Eric Bareke, et al.
Journal of Medical Genetics|August 5, 2011
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single probandDavid Watkins, Jeremy A Schwartzentruber, Jaya Ganesh, et al.
Cell Reports|February 24, 2021
Chromatin dysregulation associated with NSD1 mutation in head and neck squamous cell carcinomaNargess Farhangdoost, Cynthia Horth, Bo Hu, et al.
Neuromuscular Disorders : NMD|August 24, 2015
Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2Justin D Wagner, Lijia Huang, Martine Tetreault, et al.
Molecular Genetics & Genomic Medicine|October 4, 2019
Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephalyJolyane Meloche, Vanessa Brunet, Pierre-Alexandre Gagnon, et al.
Investigative Ophthalmology & Visual Science|February 14, 2017
The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani FamiliesVafa Keser, Ayesha Khan, Sorath Siddiqui, et al.
BMC Neurology|February 1, 2014
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndromeLaura M McDonell, Jodi Warman Chardon, Jeremy Schwartzentruber, et al.
American Journal of Human Genetics|October 2, 2012
An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defectAlexandre Janer, Hana Antonicka, Emilie Lalonde, et al.
Pageof 34

Showing results (131-140 of 333) with videos related to

Sort By:
Pageof 34
BMC Cancer|March 26, 2013
Exome profiling of primary, metastatic and recurrent ovarian carcinomas in a BRCA1-positive patientJian Zhang, Yuhao Shi, Emilie Lalonde, et al.
American Journal of Medical Genetics. Part A|September 17, 2016
A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) geneMałgorzata J M Nowaczyk, Lijia Huang, Mark Tarnopolsky, et al.
Differentiation; Research in Biological Diversity|May 11, 2023
Sf3b4 regulates chromatin remodeler splicing and Hox expressionShruti Kumar, Sabrina Shameen Alam, Eric Bareke, et al.
Journal of Medical Genetics|August 5, 2011
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single probandDavid Watkins, Jeremy A Schwartzentruber, Jaya Ganesh, et al.
Cell Reports|February 24, 2021
Chromatin dysregulation associated with NSD1 mutation in head and neck squamous cell carcinomaNargess Farhangdoost, Cynthia Horth, Bo Hu, et al.
Neuromuscular Disorders : NMD|August 24, 2015
Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2Justin D Wagner, Lijia Huang, Martine Tetreault, et al.
Molecular Genetics & Genomic Medicine|October 4, 2019
Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephalyJolyane Meloche, Vanessa Brunet, Pierre-Alexandre Gagnon, et al.
Investigative Ophthalmology & Visual Science|February 14, 2017
The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani FamiliesVafa Keser, Ayesha Khan, Sorath Siddiqui, et al.
BMC Neurology|February 1, 2014
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndromeLaura M McDonell, Jodi Warman Chardon, Jeremy Schwartzentruber, et al.
American Journal of Human Genetics|October 2, 2012
An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defectAlexandre Janer, Hana Antonicka, Emilie Lalonde, et al.
Pageof 34