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Christiane Zweier

Showing results (51-60 of 164) with videos related to

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Molecular Autism|March 29, 2018
Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neuronsMatthias Jung, Benjamin M Häberle, Tristan Tschaikowsky, et al.
American Journal of Medical Genetics. Part A|August 19, 2006
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardationAnita Rauch, Juliane Hoyer, Sabine Guth, et al.
Frontiers in Genetics|April 9, 2026
<i>CFTR</i> gene variant detection in moroccan individuals via nanopore long-read sequencingNada El Makhzen, Alexander Nater, Jean-Sébastien Rougier, et al.
Stem Cell Research|December 6, 2025
Generation of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139)Lisa Zerad, Blaise Didry-Barca, Céline Banal, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 8, 2014
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndromeChristiane Zweier, Olaf Rittinger, Ingrid Bader, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Biallelic SEMA3A defects cause a novel type of syndromic short statureKristin Hofmann, Markus Zweier, Heinrich Sticht, et al.
Molecular Genetics and Metabolism|March 21, 2006
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesityRonny Jung, Anita Rauch, Gajja S Salomons, et al.
Clinical Genetics|October 3, 2020
QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrumMelanie Föhrenbach, Rami Abou Jamra, Arndt Borkhardt, et al.
American Journal of Medical Genetics. Part A|October 8, 2024
Non-Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular MalformationsThemis-Areti A Andreoti, Massimo Maiolo, Aleksandra Tuleja, et al.
American Journal of Medical Genetics. Part A|September 17, 2021
Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome)Katalin L M L Hetzelt, Martin Winterholler, Frank Kerling, et al.
Pageof 17

Showing results (51-60 of 164) with videos related to

Sort By:
Pageof 17
Molecular Autism|March 29, 2018
Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neuronsMatthias Jung, Benjamin M Häberle, Tristan Tschaikowsky, et al.
American Journal of Medical Genetics. Part A|August 19, 2006
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardationAnita Rauch, Juliane Hoyer, Sabine Guth, et al.
Frontiers in Genetics|April 9, 2026
<i>CFTR</i> gene variant detection in moroccan individuals via nanopore long-read sequencingNada El Makhzen, Alexander Nater, Jean-Sébastien Rougier, et al.
Stem Cell Research|December 6, 2025
Generation of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139)Lisa Zerad, Blaise Didry-Barca, Céline Banal, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 8, 2014
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndromeChristiane Zweier, Olaf Rittinger, Ingrid Bader, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Biallelic SEMA3A defects cause a novel type of syndromic short statureKristin Hofmann, Markus Zweier, Heinrich Sticht, et al.
Molecular Genetics and Metabolism|March 21, 2006
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesityRonny Jung, Anita Rauch, Gajja S Salomons, et al.
Clinical Genetics|October 3, 2020
QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrumMelanie Föhrenbach, Rami Abou Jamra, Arndt Borkhardt, et al.
American Journal of Medical Genetics. Part A|October 8, 2024
Non-Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular MalformationsThemis-Areti A Andreoti, Massimo Maiolo, Aleksandra Tuleja, et al.
American Journal of Medical Genetics. Part A|September 17, 2021
Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome)Katalin L M L Hetzelt, Martin Winterholler, Frank Kerling, et al.
Pageof 17