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American Journal of Medical Genetics. Part A
|
September 18, 2008
Genetic counseling in Robertsonian translocations der(13;14): frequencies of reproductive outcomes and infertility in 101 pedigrees
Hartmut Engels, Thomas Eggermann, Almut Caliebe, et al.
European Journal of Human Genetics : EJHG
|
August 27, 2003
Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation
Hartmut Engels, Antje Ehrbrecht, Susanne Zahn, et al.
Human Mutation
|
September 15, 2022
Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome
Fabian Brand, Aswinkumar Vijayananth, Tzung-Chien Hsieh, et al.
Human Genetics
|
May 26, 2018
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies
Daniel Fritzen, Alma Kuechler, Mona Grimmel, et al.
European Journal of Human Genetics : EJHG
|
April 20, 2017
Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID
Silke Redler, Tim M Strom, Thomas Wieland, et al.
European Journal of Human Genetics : EJHG
|
May 28, 2009
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients
Hartmut Engels, Eva Wohlleber, Alexander Zink, et al.
Nature Genetics
|
May 18, 2010
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
Simone Berkel, Christian R Marshall, Birgit Weiss, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 29, 2025
KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models
Tehmeena Akhter, Zubair M Ahmed, Yaping Ji, et al.
European Journal of Human Genetics : EJHG
|
July 9, 2015
Loss-of-function variants in HIVEP2 are a cause of intellectual disability
Siddharth Srivastava, Hartmut Engels, Ina Schanze, et al.
American Journal of Medical Genetics. Part A
|
August 6, 2013
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
Nicola Dikow, Bianca Maas, Harald Gaspar, et al.
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Search research articles
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Showing results (21-30 of 73) with videos related to
Sort By:
Page
of 8
American Journal of Medical Genetics. Part A
|
September 18, 2008
Genetic counseling in Robertsonian translocations der(13;14): frequencies of reproductive outcomes and infertility in 101 pedigrees
Hartmut Engels, Thomas Eggermann, Almut Caliebe, et al.
European Journal of Human Genetics : EJHG
|
August 27, 2003
Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation
Hartmut Engels, Antje Ehrbrecht, Susanne Zahn, et al.
Human Mutation
|
September 15, 2022
Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome
Fabian Brand, Aswinkumar Vijayananth, Tzung-Chien Hsieh, et al.
Human Genetics
|
May 26, 2018
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies
Daniel Fritzen, Alma Kuechler, Mona Grimmel, et al.
European Journal of Human Genetics : EJHG
|
April 20, 2017
Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID
Silke Redler, Tim M Strom, Thomas Wieland, et al.
European Journal of Human Genetics : EJHG
|
May 28, 2009
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients
Hartmut Engels, Eva Wohlleber, Alexander Zink, et al.
Nature Genetics
|
May 18, 2010
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
Simone Berkel, Christian R Marshall, Birgit Weiss, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 29, 2025
KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models
Tehmeena Akhter, Zubair M Ahmed, Yaping Ji, et al.
European Journal of Human Genetics : EJHG
|
July 9, 2015
Loss-of-function variants in HIVEP2 are a cause of intellectual disability
Siddharth Srivastava, Hartmut Engels, Ina Schanze, et al.
American Journal of Medical Genetics. Part A
|
August 6, 2013
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
Nicola Dikow, Bianca Maas, Harald Gaspar, et al.
Page
of 8