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Martin Zenker

Showing results (41-50 of 338) with videos related to

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American Journal of Medical Genetics. Part A|May 15, 2015
Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?Christina Lissewski, Sarina G Kant, Zornitza Stark, et al.
Pediatric Nephrology (Berlin, Germany)|October 19, 2007
A milder variant of Pierson syndromeMikhail Kagan, Arthur H Cohen, Verena Matejas, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrumDenny Schanze, Hülya Kayserili, Bilge N Satkın, et al.
American Journal of Medical Genetics. Part A|June 29, 2021
Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1Dilek Uludağ Alkaya, Christina Lissewski, Gözde Yeşil, et al.
Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz|February 9, 2024
[Cancer in people with an intellectual disability in Germany: prevalence, genetics, and care situation]Tanja Sappok, Christoph Kowalski, Martin Zenker, et al.
Urology|November 18, 2011
Oligohydramnios associated with sonographically normal kidneysUlrike John, Kerstin Benz, Axel Hübler, et al.
American Journal of Medical Genetics. Part A|September 25, 2014
A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndromeIlse Wieland, Denny Schanze, Ina Schanze, et al.
American Journal of Medical Genetics. Part A|February 26, 2019
A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disabilityAnte Karoglan, Denny Schanze, Claudia Bär, et al.
European Journal of Medical Genetics|August 29, 2012
Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12DSybille Lorenz, Christine Petersen, Ulrike Kordaß, et al.
American Journal of Medical Genetics. Part A|December 14, 2006
Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1Denise Pontes Cavalcanti, Verena Matejas, Daniela Luquetti, et al.
Pageof 34

Showing results (41-50 of 338) with videos related to

Sort By:
Pageof 34
American Journal of Medical Genetics. Part A|May 15, 2015
Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?Christina Lissewski, Sarina G Kant, Zornitza Stark, et al.
Pediatric Nephrology (Berlin, Germany)|October 19, 2007
A milder variant of Pierson syndromeMikhail Kagan, Arthur H Cohen, Verena Matejas, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrumDenny Schanze, Hülya Kayserili, Bilge N Satkın, et al.
American Journal of Medical Genetics. Part A|June 29, 2021
Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1Dilek Uludağ Alkaya, Christina Lissewski, Gözde Yeşil, et al.
Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz|February 9, 2024
[Cancer in people with an intellectual disability in Germany: prevalence, genetics, and care situation]Tanja Sappok, Christoph Kowalski, Martin Zenker, et al.
Urology|November 18, 2011
Oligohydramnios associated with sonographically normal kidneysUlrike John, Kerstin Benz, Axel Hübler, et al.
American Journal of Medical Genetics. Part A|September 25, 2014
A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndromeIlse Wieland, Denny Schanze, Ina Schanze, et al.
American Journal of Medical Genetics. Part A|February 26, 2019
A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disabilityAnte Karoglan, Denny Schanze, Claudia Bär, et al.
European Journal of Medical Genetics|August 29, 2012
Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12DSybille Lorenz, Christine Petersen, Ulrike Kordaß, et al.
American Journal of Medical Genetics. Part A|December 14, 2006
Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1Denise Pontes Cavalcanti, Verena Matejas, Daniela Luquetti, et al.
Pageof 34