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Showing results (111-120 of 130) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2017
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristicsKarin Weiss, Paul Kruszka, Maria J Guillen Sacoto, et al.
Ophthalmology|April 23, 2013
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damageBrian P Brooks, Amy H Thompson, Rachel J Bishop, et al.
Cortex; a Journal Devoted to the Study of the Nervous System and Behavior|March 23, 2013
Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndromeJoan C Han, Audrey Thurm, Christine Golden Williams, et al.
American Journal of Human Genetics|June 6, 2015
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutationsJennifer J Johnston, Katie L Lewis, David Ng, et al.
Communications Biology|September 13, 2022
Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive opticsNancy Aguilera, Tao Liu, Andrew J Bower, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2016
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylationChristina Lam, Carlos Ferreira, Donna Krasnewich, et al.
Clinical Genetics|August 29, 2024
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variantsMiriam Bauwens, Vincent De Man, Isabelle Audo, et al.
Ophthalmic Genetics|July 5, 2021
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndromeAustin D Igelman, Cristy Ku, Mariana Matioli da Palma, et al.
Journal of Medical Genetics|September 24, 2011
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotesJulie M Schultz, Rashid Bhatti, Anne C Madeo, et al.
American Journal of Medical Genetics. Part A|November 12, 2019
Healthcare recommendations for Joubert syndromeRuxandra Bachmann-Gagescu, Jennifer C Dempsey, Sara Bulgheroni, et al.
Pageof 13

Showing results (111-120 of 130) with videos related to

Sort By:
Pageof 13
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2017
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristicsKarin Weiss, Paul Kruszka, Maria J Guillen Sacoto, et al.
Ophthalmology|April 23, 2013
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damageBrian P Brooks, Amy H Thompson, Rachel J Bishop, et al.
Cortex; a Journal Devoted to the Study of the Nervous System and Behavior|March 23, 2013
Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndromeJoan C Han, Audrey Thurm, Christine Golden Williams, et al.
American Journal of Human Genetics|June 6, 2015
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutationsJennifer J Johnston, Katie L Lewis, David Ng, et al.
Communications Biology|September 13, 2022
Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive opticsNancy Aguilera, Tao Liu, Andrew J Bower, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2016
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylationChristina Lam, Carlos Ferreira, Donna Krasnewich, et al.
Clinical Genetics|August 29, 2024
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variantsMiriam Bauwens, Vincent De Man, Isabelle Audo, et al.
Ophthalmic Genetics|July 5, 2021
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndromeAustin D Igelman, Cristy Ku, Mariana Matioli da Palma, et al.
Journal of Medical Genetics|September 24, 2011
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotesJulie M Schultz, Rashid Bhatti, Anne C Madeo, et al.
American Journal of Medical Genetics. Part A|November 12, 2019
Healthcare recommendations for Joubert syndromeRuxandra Bachmann-Gagescu, Jennifer C Dempsey, Sara Bulgheroni, et al.
Pageof 13