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Hartmut Engels

Showing results (41-50 of 73) with videos related to

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American Journal of Medical Genetics. Part A|February 18, 2020
Nine newly identified individuals refine the phenotype associated with MYT1L mutationsIsabelle C Windheuser, Jessica Becker, Kirsten Cremer, et al.
Annals of Clinical and Translational Neurology|July 30, 2019
KCNC1-related disorders: new de novo variants expand the phenotypic spectrumJoohyun Park, Mahmoud Koko, Ulrike B S Hedrich, et al.
European Journal of Human Genetics : EJHG|December 1, 2016
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable conditionAlma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, et al.
American Journal of Human Genetics|September 5, 2015
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech ImpairmentMaja Hempel, Kirsten Cremer, Charlotte W Ockeloen, et al.
European Journal of Human Genetics : EJHG|June 26, 2023
Episignature analysis of moderate effects and mosaicsKonrad Oexle, Michael Zech, Lara G Stühn, et al.
Molecular Cytogenetics|October 1, 2015
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?Julia K Ehret, Hartmut Engels, Kirsten Cremer, et al.
European Journal of Human Genetics : EJHG|August 21, 2014
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndromeAlma Kuechler, Alexander M Zink, Thomas Wieland, et al.
American Journal of Human Genetics|May 22, 2012
Cantú syndrome is caused by mutations in ABCC9Bregje W M van Bon, Christian Gilissen, Dorothy K Grange, et al.
European Journal of Human Genetics : EJHG|April 4, 2013
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL associationAlina Hilger, Charlotte Schramm, Tracie Pennimpede, et al.
International Journal of Cancer|September 16, 2014
Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposisSukanya Horpaopan, Isabel Spier, Alexander M Zink, et al.
Pageof 8

Showing results (41-50 of 73) with videos related to

Sort By:
Pageof 8
American Journal of Medical Genetics. Part A|February 18, 2020
Nine newly identified individuals refine the phenotype associated with MYT1L mutationsIsabelle C Windheuser, Jessica Becker, Kirsten Cremer, et al.
Annals of Clinical and Translational Neurology|July 30, 2019
KCNC1-related disorders: new de novo variants expand the phenotypic spectrumJoohyun Park, Mahmoud Koko, Ulrike B S Hedrich, et al.
European Journal of Human Genetics : EJHG|December 1, 2016
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable conditionAlma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, et al.
American Journal of Human Genetics|September 5, 2015
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech ImpairmentMaja Hempel, Kirsten Cremer, Charlotte W Ockeloen, et al.
European Journal of Human Genetics : EJHG|June 26, 2023
Episignature analysis of moderate effects and mosaicsKonrad Oexle, Michael Zech, Lara G Stühn, et al.
Molecular Cytogenetics|October 1, 2015
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?Julia K Ehret, Hartmut Engels, Kirsten Cremer, et al.
European Journal of Human Genetics : EJHG|August 21, 2014
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndromeAlma Kuechler, Alexander M Zink, Thomas Wieland, et al.
American Journal of Human Genetics|May 22, 2012
Cantú syndrome is caused by mutations in ABCC9Bregje W M van Bon, Christian Gilissen, Dorothy K Grange, et al.
European Journal of Human Genetics : EJHG|April 4, 2013
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL associationAlina Hilger, Charlotte Schramm, Tracie Pennimpede, et al.
International Journal of Cancer|September 16, 2014
Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposisSukanya Horpaopan, Isabel Spier, Alexander M Zink, et al.
Pageof 8