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Christiane Zweier

Showing results (61-70 of 164) with videos related to

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Journal of Neuromuscular Diseases|August 30, 2024
A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular DystrophyCornelia Enzmann, Leonie Steiner, Katarzyna Pospieszny, et al.
European Journal of Human Genetics : EJHG|October 28, 2025
Heterozygous loss of SRRM1 may be associated with neurodevelopmental phenotypes and anomalies in cell growth and neurite morphologyMelek Firat Altay, Anne Gregor, Dominique Braun, et al.
American Journal of Human Genetics|January 11, 2016
Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent ModulesKorinna Kochinke, Christiane Zweier, Bonnie Nijhof, et al.
Clinical Genetics|July 30, 2022
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndromeBernt Popp, Thierry Bienvenu, Irina Giurgea, et al.
American Journal of Human Genetics|October 28, 2005
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulatorChristian T Thiel, Denise Horn, Bernhard Zabel, et al.
American Journal of Human Genetics|June 11, 2013
De novo mutations in the genome organizer CTCF cause intellectual disabilityAnne Gregor, Martin Oti, Evelyn N Kouwenhoven, et al.
Cell|October 16, 2008
Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell developmentBabacar Cisse, Michele L Caton, Manfred Lehner, et al.
American Journal of Human Genetics|November 10, 2009
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in DrosophilaChristiane Zweier, Eiko K de Jong, Markus Zweier, et al.
American Journal of Human Genetics|December 17, 2009
Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombinationJoke Vandewalle, Hilde Van Esch, Karen Govaerts, et al.
Orphanet Journal of Rare Diseases|April 17, 2014
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndromeVanessa A van Rahden, Isabella Rau, Sigrid Fuchs, et al.
Pageof 17

Showing results (61-70 of 164) with videos related to

Sort By:
Pageof 17
Journal of Neuromuscular Diseases|August 30, 2024
A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular DystrophyCornelia Enzmann, Leonie Steiner, Katarzyna Pospieszny, et al.
European Journal of Human Genetics : EJHG|October 28, 2025
Heterozygous loss of SRRM1 may be associated with neurodevelopmental phenotypes and anomalies in cell growth and neurite morphologyMelek Firat Altay, Anne Gregor, Dominique Braun, et al.
American Journal of Human Genetics|January 11, 2016
Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent ModulesKorinna Kochinke, Christiane Zweier, Bonnie Nijhof, et al.
Clinical Genetics|July 30, 2022
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndromeBernt Popp, Thierry Bienvenu, Irina Giurgea, et al.
American Journal of Human Genetics|October 28, 2005
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulatorChristian T Thiel, Denise Horn, Bernhard Zabel, et al.
American Journal of Human Genetics|June 11, 2013
De novo mutations in the genome organizer CTCF cause intellectual disabilityAnne Gregor, Martin Oti, Evelyn N Kouwenhoven, et al.
Cell|October 16, 2008
Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell developmentBabacar Cisse, Michele L Caton, Manfred Lehner, et al.
American Journal of Human Genetics|November 10, 2009
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in DrosophilaChristiane Zweier, Eiko K de Jong, Markus Zweier, et al.
American Journal of Human Genetics|December 17, 2009
Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombinationJoke Vandewalle, Hilde Van Esch, Karen Govaerts, et al.
Orphanet Journal of Rare Diseases|April 17, 2014
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndromeVanessa A van Rahden, Isabella Rau, Sigrid Fuchs, et al.
Pageof 17