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Martin Zenker

Showing results (221-230 of 338) with videos related to

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Human Mutation|June 1, 2010
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expressionMarkus Zweier, Anne Gregor, Christiane Zweier, et al.
Journal of Medical Genetics|October 24, 2006
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutationsMartin Zenker, Katarina Lehmann, Anna Leana Schulz, et al.
Human Mutation|April 1, 2015
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomaliesMaja Sukalo, Felix Tilsen, Hülya Kayserili, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 30, 2022
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotypeDaniel L Kenney-Jung, Dante J Rogers, Samuel J Kroening, et al.
American Journal of Medical Genetics. Part A|October 16, 2010
Phenotype and natural history in Marshall-Smith syndromeAdam C Shaw, Inge D C van Balkom, Mislen Bauer, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 23, 2010
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)Dominik S Schoeb, Gil Chernin, Saskia F Heeringa, et al.
Human Mutation|October 13, 2015
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye AnomaliesMaja Sukalo, Felix Tilsen, Hülya Kayserili, et al.
The Journal of Clinical Investigation|August 2, 2011
Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and miceMichael Kraft, Ion Cristian Cirstea, Anne Kathrin Voss, et al.
Human Mutation|March 1, 2020
Pathogenic PTPN11 variants involving the poly-glutamine Gln<sup>255</sup> -Gln<sup>256</sup> -Gln<sup>257</sup> stretch highlight the relevance of helix B in SHP2's functional regulationSimone Martinelli, Luca Pannone, Christina Lissewski, et al.
American Journal of Human Genetics|January 8, 2011
NEK1 mutations cause short-rib polydactyly syndrome type majewskiChristian Thiel, Kristin Kessler, Andreas Giessl, et al.
Pageof 34

Showing results (221-230 of 338) with videos related to

Sort By:
Pageof 34
Human Mutation|June 1, 2010
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expressionMarkus Zweier, Anne Gregor, Christiane Zweier, et al.
Journal of Medical Genetics|October 24, 2006
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutationsMartin Zenker, Katarina Lehmann, Anna Leana Schulz, et al.
Human Mutation|April 1, 2015
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomaliesMaja Sukalo, Felix Tilsen, Hülya Kayserili, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 30, 2022
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotypeDaniel L Kenney-Jung, Dante J Rogers, Samuel J Kroening, et al.
American Journal of Medical Genetics. Part A|October 16, 2010
Phenotype and natural history in Marshall-Smith syndromeAdam C Shaw, Inge D C van Balkom, Mislen Bauer, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 23, 2010
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)Dominik S Schoeb, Gil Chernin, Saskia F Heeringa, et al.
Human Mutation|October 13, 2015
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye AnomaliesMaja Sukalo, Felix Tilsen, Hülya Kayserili, et al.
The Journal of Clinical Investigation|August 2, 2011
Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and miceMichael Kraft, Ion Cristian Cirstea, Anne Kathrin Voss, et al.
Human Mutation|March 1, 2020
Pathogenic PTPN11 variants involving the poly-glutamine Gln<sup>255</sup> -Gln<sup>256</sup> -Gln<sup>257</sup> stretch highlight the relevance of helix B in SHP2's functional regulationSimone Martinelli, Luca Pannone, Christina Lissewski, et al.
American Journal of Human Genetics|January 8, 2011
NEK1 mutations cause short-rib polydactyly syndrome type majewskiChristian Thiel, Kristin Kessler, Andreas Giessl, et al.
Pageof 34