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Martin Zenker

Showing results (271-280 of 338) with videos related to

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The Journal of Clinical Investigation|August 18, 2015
RAP1-mediated MEK/ERK pathway defects in Kabuki syndromeNina Bögershausen, I-Chun Tsai, Esther Pohl, et al.
European Journal of Human Genetics : EJHG|June 9, 2017
Genotype and phenotype spectrum of NRAS germline variantsFranziska Altmüller, Christina Lissewski, Debora Bertola, et al.
American Journal of Ophthalmology|August 2, 2008
Ophthalmological aspects of Pierson syndromeCecilie Bredrup, Verena Matejas, Margaret Barrow, et al.
Human Mutation|January 12, 2017
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan SyndromeLuca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, et al.
Nature Genetics|October 5, 2010
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypesSabine Endele, Georg Rosenberger, Kirsten Geider, et al.
Gut|September 17, 2016
Human pluripotent stem cell-derived acinar/ductal organoids generate human pancreas upon orthotopic transplantation and allow disease modellingMeike Hohwieler, Anett Illing, Patrick C Hermann, et al.
American Journal of Human Genetics|July 13, 2010
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotypeSimone Martinelli, Alessandro De Luca, Emilia Stellacci, et al.
British Journal of Haematology|November 9, 2023
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workupSenthilkumar Ramamoorthy, Dirk Lebrecht, Denny Schanze, et al.
American Journal of Human Genetics|August 25, 2015
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver SyndromeJosephina A N Meester, Laura Southgate, Anna-Barbara Stittrich, et al.
Journal of Inherited Metabolic Disease|April 2, 2020
Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementationPiming Zhao, Isaac D Liu, Jeffrey B Hodgin, et al.
Pageof 34

Showing results (271-280 of 338) with videos related to

Sort By:
Pageof 34
The Journal of Clinical Investigation|August 18, 2015
RAP1-mediated MEK/ERK pathway defects in Kabuki syndromeNina Bögershausen, I-Chun Tsai, Esther Pohl, et al.
European Journal of Human Genetics : EJHG|June 9, 2017
Genotype and phenotype spectrum of NRAS germline variantsFranziska Altmüller, Christina Lissewski, Debora Bertola, et al.
American Journal of Ophthalmology|August 2, 2008
Ophthalmological aspects of Pierson syndromeCecilie Bredrup, Verena Matejas, Margaret Barrow, et al.
Human Mutation|January 12, 2017
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan SyndromeLuca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, et al.
Nature Genetics|October 5, 2010
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypesSabine Endele, Georg Rosenberger, Kirsten Geider, et al.
Gut|September 17, 2016
Human pluripotent stem cell-derived acinar/ductal organoids generate human pancreas upon orthotopic transplantation and allow disease modellingMeike Hohwieler, Anett Illing, Patrick C Hermann, et al.
American Journal of Human Genetics|July 13, 2010
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotypeSimone Martinelli, Alessandro De Luca, Emilia Stellacci, et al.
British Journal of Haematology|November 9, 2023
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workupSenthilkumar Ramamoorthy, Dirk Lebrecht, Denny Schanze, et al.
American Journal of Human Genetics|August 25, 2015
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver SyndromeJosephina A N Meester, Laura Southgate, Anna-Barbara Stittrich, et al.
Journal of Inherited Metabolic Disease|April 2, 2020
Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementationPiming Zhao, Isaac D Liu, Jeffrey B Hodgin, et al.
Pageof 34