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Jacek Majewski

Showing results (151-160 of 333) with videos related to

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Epilepsia|June 7, 2014
Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutationSunita Venkateswaran, Ken A Myers, Amanda C Smith, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 18, 2024
Etiology of craniofacial and cardiac malformations in a mouse model of <i>SF3B4</i>-related syndromesShruti Kumar, Eric Bareke, Jimmy Lee, et al.
Biorxiv : the Preprint Server for Biology|October 31, 2023
Systematic perturbations of SETD2, NSD1, NSD2, NSD3 and ASH1L reveals their distinct contributions to H3K36 methylationGerry A Shipman, Reinnier Padilla, Cynthia Horth, et al.
Clinical Genetics|February 14, 2021
Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failureMaryam Rezaei, Beena Suresh, Eric Bereke, et al.
Journal of Medical Genetics|April 16, 2015
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndromeTawfeg Ben-Omran, Somayyeh Fahiminiya, Natalie Sorfazlian, et al.
Journal of Assisted Reproduction and Genetics|January 26, 2024
A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertilityZeynep Yalcin, Manqi Liang, Ibrahim M Abdelrazek, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencingHao Liu, Sarah L Sawyer, Monika Gos, et al.
Genome Biology|October 10, 2024
Systematic perturbations of SETD2, NSD1, NSD2, NSD3, and ASH1L reveal their distinct contributions to H3K36 methylationGerry A Shipman, Reinnier Padilla, Cynthia Horth, et al.
Polskie Archiwum Medycyny Wewnetrznej|April 13, 2012
Thoracoscopic epicardial ablation of the left and right atrium. Beating heart procedure in patients with atrial fibrillationKrzysztof Bartuś, Andy C Kiser, Jacek Majewski, et al.
BMC Medical Genetics|March 28, 2014
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial diseaseHugh J McMillan, Jeremy Schwartzentruber, Amanda Smith, et al.
Pageof 34

Showing results (151-160 of 333) with videos related to

Sort By:
Pageof 34
Epilepsia|June 7, 2014
Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutationSunita Venkateswaran, Ken A Myers, Amanda C Smith, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 18, 2024
Etiology of craniofacial and cardiac malformations in a mouse model of <i>SF3B4</i>-related syndromesShruti Kumar, Eric Bareke, Jimmy Lee, et al.
Biorxiv : the Preprint Server for Biology|October 31, 2023
Systematic perturbations of SETD2, NSD1, NSD2, NSD3 and ASH1L reveals their distinct contributions to H3K36 methylationGerry A Shipman, Reinnier Padilla, Cynthia Horth, et al.
Clinical Genetics|February 14, 2021
Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failureMaryam Rezaei, Beena Suresh, Eric Bereke, et al.
Journal of Medical Genetics|April 16, 2015
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndromeTawfeg Ben-Omran, Somayyeh Fahiminiya, Natalie Sorfazlian, et al.
Journal of Assisted Reproduction and Genetics|January 26, 2024
A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertilityZeynep Yalcin, Manqi Liang, Ibrahim M Abdelrazek, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencingHao Liu, Sarah L Sawyer, Monika Gos, et al.
Genome Biology|October 10, 2024
Systematic perturbations of SETD2, NSD1, NSD2, NSD3, and ASH1L reveal their distinct contributions to H3K36 methylationGerry A Shipman, Reinnier Padilla, Cynthia Horth, et al.
Polskie Archiwum Medycyny Wewnetrznej|April 13, 2012
Thoracoscopic epicardial ablation of the left and right atrium. Beating heart procedure in patients with atrial fibrillationKrzysztof Bartuś, Andy C Kiser, Jacek Majewski, et al.
BMC Medical Genetics|March 28, 2014
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial diseaseHugh J McMillan, Jeremy Schwartzentruber, Amanda Smith, et al.
Pageof 34