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Ethan M Goldberg

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2022

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variantsSayaka Kayumi, Luis A Pérez-Jurado, María Palomares, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2018

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsCyril Mignot, Aoife C McMahon, Claire Bar, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2018

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsCyril Mignot, Aoife C McMahon, Claire Bar, et al.

Brain : a Journal of Neurology|August 25, 2021

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implicationsKatrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, et al.

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Search research articles

Showing results (71-80 of 74) with videos related to

Sort By:

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You have reached the last page of results.This site can display upto 74 results.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2022

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variantsSayaka Kayumi, Luis A Pérez-Jurado, María Palomares, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2018

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsCyril Mignot, Aoife C McMahon, Claire Bar, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2018

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsCyril Mignot, Aoife C McMahon, Claire Bar, et al.

Brain : a Journal of Neurology|August 25, 2021

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implicationsKatrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, et al.

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