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Human Mutation
|
March 25, 2009
PORCN mutations in focal dermal hypoplasia: coping with lethality
Dorothea Bornholdt, Frank Oeffner, Arne König, et al.
Nature Genetics
|
May 10, 2011
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
Audrey Putoux, Sophie Thomas, Karlien L M Coene, et al.
Human Molecular Genetics
|
August 3, 2013
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 31, 2019
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome
Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 24, 2018
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome
Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, et al.
Page
of 16
Search research articles
Search
Showing results (151-160 of 155) with videos related to
Sort By:
Page
of 16
You have reached the last page of results.
This site can display upto 155 results.
Human Mutation
|
March 25, 2009
PORCN mutations in focal dermal hypoplasia: coping with lethality
Dorothea Bornholdt, Frank Oeffner, Arne König, et al.
Nature Genetics
|
May 10, 2011
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
Audrey Putoux, Sophie Thomas, Karlien L M Coene, et al.
Human Molecular Genetics
|
August 3, 2013
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 31, 2019
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome
Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 24, 2018
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome
Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, et al.
Page
of 16