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Christiane Zweier

Showing results (131-140 of 164) with videos related to

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American Journal of Human Genetics|April 15, 2014
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problemsAnneke T Vulto-van Silfhout, Shivakumar Rajamanickam, Philip J Jensik, et al.
European Journal of Medical Genetics|July 21, 2020
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)Gabriella Vera, Arthur Sorlin, Geoffroy Delplancq, et al.
European Journal of Human Genetics : EJHG|February 15, 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
American Journal of Human Genetics|July 31, 2018
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental DisorderAnne Gregor, Lynette G Sadleir, Reza Asadollahi, et al.
American Journal of Medical Genetics. Part A|February 5, 2016
Clinical delineation of the PACS1-related syndrome--Report on 19 patientsJanneke H M Schuurs-Hoeijmakers, Megan L Landsverk, Nicola Foulds, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 28, 2022
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profileReem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, et al.
Human Molecular Genetics|August 3, 2013
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodelingDagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2020
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamicsAnaïs Begemann, Heinrich Sticht, Amber Begtrup, 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.
Human Mutation|January 4, 2020
Genetic and phenotypic spectrum associated with IFIH1 gain-of-functionGillian I Rice, Sehoon Park, Francesco Gavazzi, et al.
Pageof 17

Showing results (131-140 of 164) with videos related to

Sort By:
Pageof 17
American Journal of Human Genetics|April 15, 2014
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problemsAnneke T Vulto-van Silfhout, Shivakumar Rajamanickam, Philip J Jensik, et al.
European Journal of Medical Genetics|July 21, 2020
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)Gabriella Vera, Arthur Sorlin, Geoffroy Delplancq, et al.
European Journal of Human Genetics : EJHG|February 15, 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
American Journal of Human Genetics|July 31, 2018
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental DisorderAnne Gregor, Lynette G Sadleir, Reza Asadollahi, et al.
American Journal of Medical Genetics. Part A|February 5, 2016
Clinical delineation of the PACS1-related syndrome--Report on 19 patientsJanneke H M Schuurs-Hoeijmakers, Megan L Landsverk, Nicola Foulds, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 28, 2022
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profileReem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, et al.
Human Molecular Genetics|August 3, 2013
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodelingDagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2020
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamicsAnaïs Begemann, Heinrich Sticht, Amber Begtrup, 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.
Human Mutation|January 4, 2020
Genetic and phenotypic spectrum associated with IFIH1 gain-of-functionGillian I Rice, Sehoon Park, Francesco Gavazzi, et al.
Pageof 17