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Christiane Zweier

Showing results (41-50 of 164) with videos related to

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Human Mutation|September 17, 2014
Altered GPM6A/M6 dosage impairs cognition and causes phenotypes responsive to cholesterol in human and DrosophilaAnne Gregor, Jamie M Kramer, Monique van der Voet, et al.
European Journal of Medical Genetics|February 7, 2018
Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndromeLuitgard M Graul-Neumann, Martin A Mensah, Eva Klopocki, et al.
Frontiers in Cardiovascular Medicine|August 1, 2022
Genotype-Specific ECG-Based Risk Stratification Approaches in Patients With Long-QT SyndromeMarina Rieder, Paul Kreifels, Judith Stuplich, et al.
Annals of Human Genetics|April 7, 2009
New mutations of EXT1 and EXT2 genes in German patients with Multiple OsteochondromasWolfram Heinritz, Ulrike Hüffmeier, Sibylle Strenge, et al.
Pediatric Hematology and Oncology|June 6, 2024
Clonal hematopoiesis of indeterminate potential is rare in pediatric patients undergoing autologous stem cell transplantationMutlu Kartal-Kaess, Axel Karow, Ulrike Bacher, et al.
Scientific Reports|February 5, 2024
NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster modelMatthias Christen, Anne Gregor, Rodrigo Gutierrez-Quintana, et al.
Gene|January 21, 2014
A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1Zehra Agha, Zafar Iqbal, Maleeha Azam, et al.
European Journal of Medical Genetics|July 6, 2020
A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2Katalin L M L Hetzelt, Cornelia Kraus, Stefan Kusnik, et al.
Klinische Padiatrie|January 15, 2024
A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype CorrelationMarc-Alexander Oestreich, Fabian Keller, Xenia Bovermann, et al.
European Journal of Human Genetics : EJHG|June 7, 2021
PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disordersAllan Bayat, Sumaiya Iqbal, Kim Borredy, et al.
Pageof 17

Showing results (41-50 of 164) with videos related to

Sort By:
Pageof 17
Human Mutation|September 17, 2014
Altered GPM6A/M6 dosage impairs cognition and causes phenotypes responsive to cholesterol in human and DrosophilaAnne Gregor, Jamie M Kramer, Monique van der Voet, et al.
European Journal of Medical Genetics|February 7, 2018
Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndromeLuitgard M Graul-Neumann, Martin A Mensah, Eva Klopocki, et al.
Frontiers in Cardiovascular Medicine|August 1, 2022
Genotype-Specific ECG-Based Risk Stratification Approaches in Patients With Long-QT SyndromeMarina Rieder, Paul Kreifels, Judith Stuplich, et al.
Annals of Human Genetics|April 7, 2009
New mutations of EXT1 and EXT2 genes in German patients with Multiple OsteochondromasWolfram Heinritz, Ulrike Hüffmeier, Sibylle Strenge, et al.
Pediatric Hematology and Oncology|June 6, 2024
Clonal hematopoiesis of indeterminate potential is rare in pediatric patients undergoing autologous stem cell transplantationMutlu Kartal-Kaess, Axel Karow, Ulrike Bacher, et al.
Scientific Reports|February 5, 2024
NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster modelMatthias Christen, Anne Gregor, Rodrigo Gutierrez-Quintana, et al.
Gene|January 21, 2014
A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1Zehra Agha, Zafar Iqbal, Maleeha Azam, et al.
European Journal of Medical Genetics|July 6, 2020
A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2Katalin L M L Hetzelt, Cornelia Kraus, Stefan Kusnik, et al.
Klinische Padiatrie|January 15, 2024
A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype CorrelationMarc-Alexander Oestreich, Fabian Keller, Xenia Bovermann, et al.
European Journal of Human Genetics : EJHG|June 7, 2021
PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disordersAllan Bayat, Sumaiya Iqbal, Kim Borredy, et al.
Pageof 17