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Kelly L Jones

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American Journal of Medical Genetics. Part A|December 20, 2019

Turner syndrome in diverse populationsPaul Kruszka, Yonit A Addissie, Cedrik Tekendo-Ngongang, et al.

American Journal of Medical Genetics. Part A|July 28, 2017

Noonan syndrome in diverse populationsPaul Kruszka, Antonio R Porras, Yonit A Addissie, et al.

American Journal of Medical Genetics. Part A|April 23, 2018

Williams-Beuren syndrome in diverse populationsPaul Kruszka, Antonio R Porras, Deise Helena de Souza, et al.

Journal of Medical Genetics|April 6, 2017

<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspectsKonrad Platzer, Hongjie Yuan, Hannah Schütz, et al.

Genome Research|February 1, 2015

Actionable exomic incidental findings in 6503 participants: challenges of variant classificationLaura M Amendola, Michael O Dorschner, Peggy D Robertson, et al.

American Journal of Human Genetics|January 29, 2021

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunctionJoery den Hoed, Elke de Boer, Norine Voisin, et al.

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Search research articles

Showing results (21-30 of 26) with videos related to

Sort By:

Pageof 3

You have reached the last page of results.This site can display upto 26 results.

American Journal of Medical Genetics. Part A|December 20, 2019

Turner syndrome in diverse populationsPaul Kruszka, Yonit A Addissie, Cedrik Tekendo-Ngongang, et al.

American Journal of Medical Genetics. Part A|July 28, 2017

Noonan syndrome in diverse populationsPaul Kruszka, Antonio R Porras, Yonit A Addissie, et al.

American Journal of Medical Genetics. Part A|April 23, 2018

Williams-Beuren syndrome in diverse populationsPaul Kruszka, Antonio R Porras, Deise Helena de Souza, et al.

Journal of Medical Genetics|April 6, 2017

<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspectsKonrad Platzer, Hongjie Yuan, Hannah Schütz, et al.

Genome Research|February 1, 2015

Actionable exomic incidental findings in 6503 participants: challenges of variant classificationLaura M Amendola, Michael O Dorschner, Peggy D Robertson, et al.

American Journal of Human Genetics|January 29, 2021

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunctionJoery den Hoed, Elke de Boer, Norine Voisin, et al.

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