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Jan M Cobben

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American Journal of Medical Genetics. Part A|July 26, 2020

Genotype-phenotype correlation at codon 1740 of SETD2Rachel Rabin, Alireza Radmanesh, Ian A Glass, et al.

Human Mutation|March 7, 2014

Mutations in the human UBR1 gene and the associated phenotypic spectrumMaja Sukalo, Ariane Fiedler, Celina Guzmán, et al.

Human Mutation|January 4, 2012

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype studyMijke M M Verhagen, James I Last, Frans B L Hogervorst, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2026

Expanding the phenotypic spectrum associated with ZIC1 variants: a neurodevelopmental disorder with and without craniosynostosisLaura M Watts, Michelle S M Chang, Elizabeth Lewis-Orr, et al.

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Search research articles

Showing results (21-30 of 24) with videos related to

Sort By:

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You have reached the last page of results.This site can display upto 24 results.

American Journal of Medical Genetics. Part A|July 26, 2020

Genotype-phenotype correlation at codon 1740 of SETD2Rachel Rabin, Alireza Radmanesh, Ian A Glass, et al.

Human Mutation|March 7, 2014

Mutations in the human UBR1 gene and the associated phenotypic spectrumMaja Sukalo, Ariane Fiedler, Celina Guzmán, et al.

Human Mutation|January 4, 2012

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype studyMijke M M Verhagen, James I Last, Frans B L Hogervorst, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2026

Expanding the phenotypic spectrum associated with ZIC1 variants: a neurodevelopmental disorder with and without craniosynostosisLaura M Watts, Michelle S M Chang, Elizabeth Lewis-Orr, et al.

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