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Showing results (141-150 of 160) with videos related to

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Hormone Research in Paediatrics|May 20, 2020
Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary HypothyroidismDaniela Choukair, Birgit Eberle, Philipp Vick, et al.
Stem Cell Reports|September 25, 2020
Precise Correction of Heterozygous SHOX2 Mutations in hiPSCs Derived from Patients with Atrial Fibrillation via Genome Editing and Sib SelectionSimon Alexander Sumer, Sandra Hoffmann, Svenja Laue, et al.
Journal of Human Genetics|June 17, 2016
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disabilityKirti Mittal, Muhammad A Rafiq, Rafiullah Rafiullah, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 4, 2017
Investigation of SHANK3 in schizophreniaAna de Sena Cortabitarte, Franziska Degenhardt, Jana Strohmaier, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activityRafiullah Rafiullah, Alyssa B Long, Anna A Ivanova, et al.
Journal of Medical Genetics|October 3, 1999
The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequencesC A Sargent, C A Boucher, S Kirsch, et al.
Nature Genetics|May 18, 2010
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardationSimone Berkel, Christian R Marshall, Birgit Weiss, et al.
Frontiers in Genetics|July 30, 2019
Functional Characterization of Rare Variants in the <i>SHOX2</i> Gene Identified in Sinus Node Dysfunction and Atrial FibrillationSandra Hoffmann, Christoph Paone, Simon A Sumer, et al.
Neurogastroenterology and Motility|July 19, 2019
Postnatal human enteric neurospheres show a remarkable molecular complexityStefanie Schmitteckert, Tanja Mederer, Ralph Röth, et al.
Nature Genetics|May 1, 1997
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndromeE Rao, B Weiss, M Fukami, et al.
Pageof 16

Showing results (141-150 of 160) with videos related to

Sort By:
Pageof 16
Hormone Research in Paediatrics|May 20, 2020
Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary HypothyroidismDaniela Choukair, Birgit Eberle, Philipp Vick, et al.
Stem Cell Reports|September 25, 2020
Precise Correction of Heterozygous SHOX2 Mutations in hiPSCs Derived from Patients with Atrial Fibrillation via Genome Editing and Sib SelectionSimon Alexander Sumer, Sandra Hoffmann, Svenja Laue, et al.
Journal of Human Genetics|June 17, 2016
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disabilityKirti Mittal, Muhammad A Rafiq, Rafiullah Rafiullah, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 4, 2017
Investigation of SHANK3 in schizophreniaAna de Sena Cortabitarte, Franziska Degenhardt, Jana Strohmaier, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activityRafiullah Rafiullah, Alyssa B Long, Anna A Ivanova, et al.
Journal of Medical Genetics|October 3, 1999
The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequencesC A Sargent, C A Boucher, S Kirsch, et al.
Nature Genetics|May 18, 2010
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardationSimone Berkel, Christian R Marshall, Birgit Weiss, et al.
Frontiers in Genetics|July 30, 2019
Functional Characterization of Rare Variants in the <i>SHOX2</i> Gene Identified in Sinus Node Dysfunction and Atrial FibrillationSandra Hoffmann, Christoph Paone, Simon A Sumer, et al.
Neurogastroenterology and Motility|July 19, 2019
Postnatal human enteric neurospheres show a remarkable molecular complexityStefanie Schmitteckert, Tanja Mederer, Ralph Röth, et al.
Nature Genetics|May 1, 1997
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndromeE Rao, B Weiss, M Fukami, et al.
Pageof 16