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European Journal of Medical Genetics
|
October 19, 2010
Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation
Eva Wohlleber, Maria Kirchhoff, Alexander M Zink, et al.
BMC Genomics
|
December 2, 2024
Expression quantitative trait loci influence DNA damage-induced apoptosis in cancer
Jessica Bigge, Laura L Koebbe, Ann-Sophie Giel, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
December 19, 2015
Array-based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions
Sophia K Krutzke, Hartmut Engels, Andrea Hofmann, et al.
European Journal of Human Genetics : EJHG
|
July 21, 2016
De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth
Johanna Schäfgen, Kirsten Cremer, Jessica Becker, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
July 8, 2016
Further evidence for deletions in 7p14.1 contributing to nonsyndromic cleft lip with or without cleft palate
Johanna Klamt, Andrea Hofmann, Anne C Böhmer, 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
|
February 28, 2012
A phenotype map for 14q32.3 terminal deletions
Hartmut Engels, Herdit M Schüler, Alexander M Zink, 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.
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.
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of 2
Search research articles
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Showing results (1-10 of 20) with videos related to
Sort By:
Page
of 2
European Journal of Medical Genetics
|
October 19, 2010
Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation
Eva Wohlleber, Maria Kirchhoff, Alexander M Zink, et al.
BMC Genomics
|
December 2, 2024
Expression quantitative trait loci influence DNA damage-induced apoptosis in cancer
Jessica Bigge, Laura L Koebbe, Ann-Sophie Giel, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
December 19, 2015
Array-based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions
Sophia K Krutzke, Hartmut Engels, Andrea Hofmann, et al.
European Journal of Human Genetics : EJHG
|
July 21, 2016
De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth
Johanna Schäfgen, Kirsten Cremer, Jessica Becker, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
July 8, 2016
Further evidence for deletions in 7p14.1 contributing to nonsyndromic cleft lip with or without cleft palate
Johanna Klamt, Andrea Hofmann, Anne C Böhmer, 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
|
February 28, 2012
A phenotype map for 14q32.3 terminal deletions
Hartmut Engels, Herdit M Schüler, Alexander M Zink, 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.
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.
Page
of 2