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Robin D Clark

Showing results (31-40 of 41) with videos related to

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Research Square|February 20, 2025
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia PigmentiMonica H Wojcik, Robin D Clark, Abdallah F Elias, et al.
American Journal of Medical Genetics. Part A|January 27, 2010
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndromeCarol Gallione, Arthur S Aylsworth, Jill Beis, et al.
Annals of Clinical and Translational Neurology|July 24, 2022
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infectionAjay X Thomas, Nichole Link, Laurie A Robak, et al.
American Journal of Human Genetics|September 26, 2023
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defectsFlorence Petit, Mauro Longoni, Julie Wells, et al.
Cell|September 27, 2014
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseasesShinya Yamamoto, Manish Jaiswal, Wu-Lin Charng, et al.
American Journal of Human Genetics|September 3, 2021
Response to Hamosh et alLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
American Journal of Human Genetics|January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomicsLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
American Journal of Medical Genetics. Part A|January 8, 2019
Cornelia de Lange syndrome in diverse populationsLeah Dowsett, Antonio R Porras, Paul Kruszka, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2023
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disordersFranziska Langhammer, Reza Maroofian, Rueda Badar, et al.
Medrxiv : the Preprint Server for Health Sciences|February 26, 2024
Biallelic variation in the choline and ethanolamine transporter <i>FLVCR1</i> underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disordersDaniel G Calame, Jovi Huixin Wong, Puravi Panda, et al.
Pageof 5

Showing results (31-40 of 41) with videos related to

Sort By:
Pageof 5
Research Square|February 20, 2025
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia PigmentiMonica H Wojcik, Robin D Clark, Abdallah F Elias, et al.
American Journal of Medical Genetics. Part A|January 27, 2010
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndromeCarol Gallione, Arthur S Aylsworth, Jill Beis, et al.
Annals of Clinical and Translational Neurology|July 24, 2022
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infectionAjay X Thomas, Nichole Link, Laurie A Robak, et al.
American Journal of Human Genetics|September 26, 2023
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defectsFlorence Petit, Mauro Longoni, Julie Wells, et al.
Cell|September 27, 2014
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseasesShinya Yamamoto, Manish Jaiswal, Wu-Lin Charng, et al.
American Journal of Human Genetics|September 3, 2021
Response to Hamosh et alLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
American Journal of Human Genetics|January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomicsLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
American Journal of Medical Genetics. Part A|January 8, 2019
Cornelia de Lange syndrome in diverse populationsLeah Dowsett, Antonio R Porras, Paul Kruszka, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2023
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disordersFranziska Langhammer, Reza Maroofian, Rueda Badar, et al.
Medrxiv : the Preprint Server for Health Sciences|February 26, 2024
Biallelic variation in the choline and ethanolamine transporter <i>FLVCR1</i> underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disordersDaniel G Calame, Jovi Huixin Wong, Puravi Panda, et al.
Pageof 5