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Journal of Medical Genetics
|
July 3, 2007
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays
Juliane Hoyer, Alexander Dreweke, Christian Becker, et al.
American Journal of Medical Genetics. Part A
|
April 4, 2017
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome
Nicola Dikow, Martin Granzow, Luitgard M Graul-Neumann, et al.
Acta Neuropathologica
|
March 5, 2019
TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma
Malte Hellwig, Marlen C Lauffer, Michael Bockmayr, et al.
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 expression
Markus Zweier, Anne Gregor, Christiane Zweier, et al.
The Journal of Experimental Medicine
|
October 28, 2015
Transcriptional repressor ZEB2 promotes terminal differentiation of CD8+ effector and memory T cell populations during infection
Kyla D Omilusik, J Adam Best, Bingfei Yu, et al.
Journal of Medical Genetics
|
August 31, 2016
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum
Miriam S Reuter, Angelika Riess, Ute Moog, et al.
Clinical Genetics
|
October 11, 2019
Skeletal abnormalities are common features in Aymé-Gripp syndrome
Marcello Niceta, Domenico Barbuti, Neerja Gupta, et al.
American Journal of Human Genetics
|
March 13, 2012
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability
Juliane Hoyer, Arif B Ekici, Sabine Endele, et al.
Scientific Reports
|
September 24, 2017
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature
Nadine N Hauer, Heinrich Sticht, Sangamitra Boppudi, et al.
Plos Genetics
|
November 9, 2013
Human intellectual disability genes form conserved functional modules in Drosophila
Merel A W Oortveld, Shivakumar Keerthikumar, Martin Oti, et al.
Page
of 17
Search research articles
Search
Showing results (81-90 of 164) with videos related to
Sort By:
Page
of 17
Journal of Medical Genetics
|
July 3, 2007
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays
Juliane Hoyer, Alexander Dreweke, Christian Becker, et al.
American Journal of Medical Genetics. Part A
|
April 4, 2017
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome
Nicola Dikow, Martin Granzow, Luitgard M Graul-Neumann, et al.
Acta Neuropathologica
|
March 5, 2019
TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma
Malte Hellwig, Marlen C Lauffer, Michael Bockmayr, et al.
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 expression
Markus Zweier, Anne Gregor, Christiane Zweier, et al.
The Journal of Experimental Medicine
|
October 28, 2015
Transcriptional repressor ZEB2 promotes terminal differentiation of CD8+ effector and memory T cell populations during infection
Kyla D Omilusik, J Adam Best, Bingfei Yu, et al.
Journal of Medical Genetics
|
August 31, 2016
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum
Miriam S Reuter, Angelika Riess, Ute Moog, et al.
Clinical Genetics
|
October 11, 2019
Skeletal abnormalities are common features in Aymé-Gripp syndrome
Marcello Niceta, Domenico Barbuti, Neerja Gupta, et al.
American Journal of Human Genetics
|
March 13, 2012
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability
Juliane Hoyer, Arif B Ekici, Sabine Endele, et al.
Scientific Reports
|
September 24, 2017
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature
Nadine N Hauer, Heinrich Sticht, Sangamitra Boppudi, et al.
Plos Genetics
|
November 9, 2013
Human intellectual disability genes form conserved functional modules in Drosophila
Merel A W Oortveld, Shivakumar Keerthikumar, Martin Oti, et al.
Page
of 17