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Marjorie Withers

Showing results (11-20 of 19) with videos related to

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Developmental Cell|November 19, 2019
Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause MicrocephalyNichole Link, Hyunglok Chung, Angad Jolly, et al.
American Journal of Human Genetics|March 16, 2007
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotypeLorraine Potocki, Weimin Bi, Diane Treadwell-Deering, et al.
Nature Genetics|October 4, 2011
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genomeClaudia M B Carvalho, Melissa B Ramocki, Davut Pehlivan, et al.
Human Molecular Genetics|October 26, 2020
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activityHarikiran Nistala, John Dronzek, Claudia Gonzaga-Jauregui, et al.
Cell|March 5, 2019
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2Christine R Beck, Claudia M B Carvalho, Zeynep C Akdemir, et al.
Cell|February 25, 2017
An Organismal CNV Mutator Phenotype Restricted to Early Human DevelopmentPengfei Liu, Bo Yuan, Claudia M B Carvalho, et al.
Cell Reports|August 11, 2015
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyClaudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, et al.
Cell|April 29, 2014
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system functionEnder Karaca, Stefan Weitzer, Davut Pehlivan, et al.
American Journal of Human Genetics|September 20, 2016
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological SyndromesTamar Harel, Wan Hee Yoon, Caterina Garone, et al.
Pageof 2

Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
Developmental Cell|November 19, 2019
Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause MicrocephalyNichole Link, Hyunglok Chung, Angad Jolly, et al.
American Journal of Human Genetics|March 16, 2007
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotypeLorraine Potocki, Weimin Bi, Diane Treadwell-Deering, et al.
Nature Genetics|October 4, 2011
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genomeClaudia M B Carvalho, Melissa B Ramocki, Davut Pehlivan, et al.
Human Molecular Genetics|October 26, 2020
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activityHarikiran Nistala, John Dronzek, Claudia Gonzaga-Jauregui, et al.
Cell|March 5, 2019
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2Christine R Beck, Claudia M B Carvalho, Zeynep C Akdemir, et al.
Cell|February 25, 2017
An Organismal CNV Mutator Phenotype Restricted to Early Human DevelopmentPengfei Liu, Bo Yuan, Claudia M B Carvalho, et al.
Cell Reports|August 11, 2015
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyClaudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, et al.
Cell|April 29, 2014
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system functionEnder Karaca, Stefan Weitzer, Davut Pehlivan, et al.
American Journal of Human Genetics|September 20, 2016
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological SyndromesTamar Harel, Wan Hee Yoon, Caterina Garone, et al.
Pageof 2