Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Rolph Pfundt

Showing results (81-90 of 286) with videos related to

Pageof 29
Sort By:
European Journal of Medical Genetics|July 17, 2012
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomaliesMarjolein H Willemsen, Nicole de Leeuw, Arjan P M de Brouwer, et al.
Journal of Human Genetics|November 27, 2015
Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial featuresIris H I M Hollink, Majid Alfadhel, Anwar S Al-Wakeel, et al.
Genome Medicine|January 26, 2026
Genome-wide methylation detection and episignature analysis using PacBio long-read sequencingVéronique Ivashchenko, Michelle de Groot, Ronny Derks, et al.
European Journal of Human Genetics : EJHG|November 19, 2009
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndromeMarjolein H Willemsen, Bridget A Fernandez, Carlos A Bacino, et al.
European Journal of Human Genetics : EJHG|September 10, 2015
Novel genetic causes for cerebral visual impairmentDaniëlle G M Bosch, F Nienke Boonstra, Nicole de Leeuw, et al.
Journal of Human Genetics|March 27, 2018
Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial featuresIris H I M Hollink, Majid Alfadhel, Anwar S Al-Wakeel, et al.
American Journal of Medical Genetics. Part A|May 18, 2017
Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemiaKriti D Khandelwal, Charlotte W Ockeloen, Hanka Venselaar, et al.
Pathology Oncology Research : POR|October 16, 2014
Mutations in g protein encoding genes and chromosomal alterations in primary leptomeningeal melanocytic neoplasmsHeidi V N Küsters-Vandevelde, Ilse A C H van Engen-van Grunsven, Sarah E Coupland, et al.
Indian Journal of Human Genetics|September 11, 2013
Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular studyFarmaditya E P Mundhofir, Willy M Nillesen, Bregje W M Van Bon, et al.
American Journal of Human Genetics|December 14, 2011
Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humansIlse Feenstra, Lisenka E L M Vissers, Ronald J E Pennings, et al.
Pageof 29

Showing results (81-90 of 286) with videos related to

Sort By:
Pageof 29
European Journal of Medical Genetics|July 17, 2012
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomaliesMarjolein H Willemsen, Nicole de Leeuw, Arjan P M de Brouwer, et al.
Journal of Human Genetics|November 27, 2015
Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial featuresIris H I M Hollink, Majid Alfadhel, Anwar S Al-Wakeel, et al.
Genome Medicine|January 26, 2026
Genome-wide methylation detection and episignature analysis using PacBio long-read sequencingVéronique Ivashchenko, Michelle de Groot, Ronny Derks, et al.
European Journal of Human Genetics : EJHG|November 19, 2009
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndromeMarjolein H Willemsen, Bridget A Fernandez, Carlos A Bacino, et al.
European Journal of Human Genetics : EJHG|September 10, 2015
Novel genetic causes for cerebral visual impairmentDaniëlle G M Bosch, F Nienke Boonstra, Nicole de Leeuw, et al.
Journal of Human Genetics|March 27, 2018
Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial featuresIris H I M Hollink, Majid Alfadhel, Anwar S Al-Wakeel, et al.
American Journal of Medical Genetics. Part A|May 18, 2017
Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemiaKriti D Khandelwal, Charlotte W Ockeloen, Hanka Venselaar, et al.
Pathology Oncology Research : POR|October 16, 2014
Mutations in g protein encoding genes and chromosomal alterations in primary leptomeningeal melanocytic neoplasmsHeidi V N Küsters-Vandevelde, Ilse A C H van Engen-van Grunsven, Sarah E Coupland, et al.
Indian Journal of Human Genetics|September 11, 2013
Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular studyFarmaditya E P Mundhofir, Willy M Nillesen, Bregje W M Van Bon, et al.
American Journal of Human Genetics|December 14, 2011
Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humansIlse Feenstra, Lisenka E L M Vissers, Ronald J E Pennings, et al.
Pageof 29