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European Journal of Human Genetics : EJHG
|
January 22, 2015
New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)
Aloysius Domingo, Ana Westenberger, Lillian V Lee, et al.
Brain : a Journal of Neurology
|
April 28, 2022
Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset
Joanne Trinh, Theresa Lüth, Susen Schaake, et al.
Circulation
|
May 11, 2017
Functional Characterization of the <i>GUCY1A3</i> Coronary Artery Disease Risk Locus
Thorsten Kessler, Jana Wobst, Bernhard Wolf, et al.
Nature Genetics
|
February 26, 2008
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
Sheila Unger, Detlef Böhm, Frank J Kaiser, et al.
Journal of Medical Genetics
|
October 2, 2015
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
Ronja Hollstein, David A Parry, Lisa Nalbach, et al.
International Journal of Molecular Sciences
|
June 12, 2014
Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome
María E Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, et al.
European Journal of Human Genetics : EJHG
|
August 18, 2011
Identification and functional analysis of novel THAP1 mutations
Katja Lohmann, Nils Uflacker, Alev Erogullari, et al.
European Journal of Human Genetics : EJHG
|
September 22, 2011
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction
Diana Braunholz, Melanie Hullings, María Concepcion Gil-Rodríguez, et al.
Cell Reports
|
May 21, 2020
MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome
Ilaria Parenti, Farah Diab, Sara Ruiz Gil, et al.
American Journal of Medical Genetics. Part A
|
May 29, 2021
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23
William Burns, Lynne M Bird, Delphine Heron, et al.
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Search research articles
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Showing results (51-60 of 101) with videos related to
Sort By:
Page
of 11
European Journal of Human Genetics : EJHG
|
January 22, 2015
New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)
Aloysius Domingo, Ana Westenberger, Lillian V Lee, et al.
Brain : a Journal of Neurology
|
April 28, 2022
Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset
Joanne Trinh, Theresa Lüth, Susen Schaake, et al.
Circulation
|
May 11, 2017
Functional Characterization of the <i>GUCY1A3</i> Coronary Artery Disease Risk Locus
Thorsten Kessler, Jana Wobst, Bernhard Wolf, et al.
Nature Genetics
|
February 26, 2008
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
Sheila Unger, Detlef Böhm, Frank J Kaiser, et al.
Journal of Medical Genetics
|
October 2, 2015
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
Ronja Hollstein, David A Parry, Lisa Nalbach, et al.
International Journal of Molecular Sciences
|
June 12, 2014
Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome
María E Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, et al.
European Journal of Human Genetics : EJHG
|
August 18, 2011
Identification and functional analysis of novel THAP1 mutations
Katja Lohmann, Nils Uflacker, Alev Erogullari, et al.
European Journal of Human Genetics : EJHG
|
September 22, 2011
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction
Diana Braunholz, Melanie Hullings, María Concepcion Gil-Rodríguez, et al.
Cell Reports
|
May 21, 2020
MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome
Ilaria Parenti, Farah Diab, Sara Ruiz Gil, et al.
American Journal of Medical Genetics. Part A
|
May 29, 2021
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23
William Burns, Lynne M Bird, Delphine Heron, et al.
Page
of 11