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Sarah E Noon

Showing results (11-20 of 13) with videos related to

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European Journal of Human Genetics : EJHG|May 7, 2015
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct faciesJianling Ji, Hane Lee, Bob Argiropoulos, et al.
American Journal of Medical Genetics. Part A|May 27, 2017
Phenotypes and genotypes in individuals with SMC1A variantsSylvia Huisman, Paul A Mulder, Egbert Redeker, et al.
Human Molecular Genetics|January 10, 2014
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritanceFrank J Kaiser, Morad Ansari, Diana Braunholz, et al.
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Showing results (11-20 of 13) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 13 results.
European Journal of Human Genetics : EJHG|May 7, 2015
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct faciesJianling Ji, Hane Lee, Bob Argiropoulos, et al.
American Journal of Medical Genetics. Part A|May 27, 2017
Phenotypes and genotypes in individuals with SMC1A variantsSylvia Huisman, Paul A Mulder, Egbert Redeker, et al.
Human Molecular Genetics|January 10, 2014
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritanceFrank J Kaiser, Morad Ansari, Diana Braunholz, et al.
Pageof 2