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European Journal of Human Genetics : EJHG
|
March 12, 2015
Redefining the MED13L syndrome
Abidemi Adegbola, Luciana Musante, Bert Callewaert, et al.
Human Mutation
|
March 26, 2014
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy
Phillipa J Lamont, William Wallefeld, David Hilton-Jones, et al.
Human Mutation
|
July 31, 2010
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
Jennifer J Johnston, Julie C Sapp, Joyce T Turner, et al.
American Journal of Medical Genetics. Part A
|
October 24, 2020
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
David A Dyment, Anne O'Donnell-Luria, Pankaj B Agrawal, et al.
American Journal of Medical Genetics. Part A
|
June 28, 2023
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms
Maninder Kaur, Justin Blair, Batsal Devkota, et al.
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Search research articles
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Showing results (71-80 of 75) with videos related to
Sort By:
Page
of 8
You have reached the last page of results.
This site can display upto 75 results.
European Journal of Human Genetics : EJHG
|
March 12, 2015
Redefining the MED13L syndrome
Abidemi Adegbola, Luciana Musante, Bert Callewaert, et al.
Human Mutation
|
March 26, 2014
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy
Phillipa J Lamont, William Wallefeld, David Hilton-Jones, et al.
Human Mutation
|
July 31, 2010
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
Jennifer J Johnston, Julie C Sapp, Joyce T Turner, et al.
American Journal of Medical Genetics. Part A
|
October 24, 2020
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
David A Dyment, Anne O'Donnell-Luria, Pankaj B Agrawal, et al.
American Journal of Medical Genetics. Part A
|
June 28, 2023
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms
Maninder Kaur, Justin Blair, Batsal Devkota, et al.
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of 8