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Showing results (31-40 of 37) with videos related to

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Gene|January 1, 2014
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial caseAgata Minor, Marwan Shinawi, Jacob S Hogue, et al.
Human Genetics|January 18, 2022
Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylationNina McTiernan, Lisbeth Tranebjærg, Anna S Bjørheim, et al.
American Journal of Medical Genetics. Part A|November 15, 2014
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndromeKaren W Gripp, Katherine M Robbins, Nara L Sobreira, et al.
Human Mutation|April 3, 2014
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathiesMinttu Marttila, Vilma-Lotta Lehtokari, Steven Marston, et al.
Human Genetics|October 20, 2014
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrumAlma Kuechler, Marjolein H Willemsen, Beate Albrecht, et al.
Nature Communications|August 22, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathyEmily Banks, Vincent Francis, Sheng-Jia Lin, et al.
Medrxiv : the Preprint Server for Health Sciences|February 14, 2024
Loss of symmetric cell division of apical neural progenitors drives <i>DENND5A</i>-related developmental and epileptic encephalopathyEmily Banks, Vincent Francis, Sheng-Jia Lin, et al.
Pageof 4

Showing results (31-40 of 37) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 37 results.
Gene|January 1, 2014
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial caseAgata Minor, Marwan Shinawi, Jacob S Hogue, et al.
Human Genetics|January 18, 2022
Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylationNina McTiernan, Lisbeth Tranebjærg, Anna S Bjørheim, et al.
American Journal of Medical Genetics. Part A|November 15, 2014
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndromeKaren W Gripp, Katherine M Robbins, Nara L Sobreira, et al.
Human Mutation|April 3, 2014
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathiesMinttu Marttila, Vilma-Lotta Lehtokari, Steven Marston, et al.
Human Genetics|October 20, 2014
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrumAlma Kuechler, Marjolein H Willemsen, Beate Albrecht, et al.
Nature Communications|August 22, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathyEmily Banks, Vincent Francis, Sheng-Jia Lin, et al.
Medrxiv : the Preprint Server for Health Sciences|February 14, 2024
Loss of symmetric cell division of apical neural progenitors drives <i>DENND5A</i>-related developmental and epileptic encephalopathyEmily Banks, Vincent Francis, Sheng-Jia Lin, et al.
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