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Journal of Medical Genetics
|
October 5, 2013
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype
Christiane Zweier, Cornelia Kraus, Louise Brueton, et al.
NPJ Genomic Medicine
|
July 2, 2021
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19
Axel Schmidt, Sophia Peters, Alexej Knaus, 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.
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.
Pediatric Pulmonology
|
August 10, 2023
Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children
Katharina Schütz, Axel Schmidt, Nicolaus Schwerk, et al.
American Journal of Medical Genetics. Part A
|
February 28, 2012
A phenotype map for 14q32.3 terminal deletions
Hartmut Engels, Herdit M Schüler, Alexander M Zink, et al.
American Journal of Medical Genetics. Part A
|
November 19, 2016
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations
Nicola Dennert, Hartmut Engels, Kirsten Cremer, et al.
American Journal of Medical Genetics. Part A
|
January 29, 2011
De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation
Charlotte Schramm, Markus Draaken, Enrika Bartels, et al.
BMC Medical Genetics
|
August 11, 2011
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
Anne Gregor, Beate Albrecht, Ingrid Bader, et al.
Annals of Neurology
|
April 1, 2003
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease
Christian Kubisch, Benedikt G H Schoser, Monika von Düring, et al.
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Search research articles
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Showing results (31-40 of 73) with videos related to
Sort By:
Page
of 8
Journal of Medical Genetics
|
October 5, 2013
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype
Christiane Zweier, Cornelia Kraus, Louise Brueton, et al.
NPJ Genomic Medicine
|
July 2, 2021
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19
Axel Schmidt, Sophia Peters, Alexej Knaus, 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.
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.
Pediatric Pulmonology
|
August 10, 2023
Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children
Katharina Schütz, Axel Schmidt, Nicolaus Schwerk, et al.
American Journal of Medical Genetics. Part A
|
February 28, 2012
A phenotype map for 14q32.3 terminal deletions
Hartmut Engels, Herdit M Schüler, Alexander M Zink, et al.
American Journal of Medical Genetics. Part A
|
November 19, 2016
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations
Nicola Dennert, Hartmut Engels, Kirsten Cremer, et al.
American Journal of Medical Genetics. Part A
|
January 29, 2011
De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation
Charlotte Schramm, Markus Draaken, Enrika Bartels, et al.
BMC Medical Genetics
|
August 11, 2011
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
Anne Gregor, Beate Albrecht, Ingrid Bader, et al.
Annals of Neurology
|
April 1, 2003
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease
Christian Kubisch, Benedikt G H Schoser, Monika von Düring, et al.
Page
of 8