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John Wolff

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Journal of the Neurological Sciences|July 17, 2010

A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutationsDong-Hui Chen, Wendy H Raskind, William W Parson, et al.

Plos One|April 28, 2016

Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of SpeechBeate Peter, Ellen M Wijsman, Alejandro Q Nato, et al.

American Journal of Human Genetics|June 4, 2016

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9LDong-Hui Chen, Jennifer E Below, Akiko Shimamura, et al.

American Journal of Human Genetics|March 20, 2003

Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxiaDong-Hui Chen, Zoran Brkanac, Christophe L M J Verlinde, et al.

Movement Disorders : Official Journal of the Movement Disorder Society|July 15, 2010

A novel X-linked four-repeat tauopathy with Parkinsonism and spasticityParvoneh Poorkaj, Wendy H Raskind, James B Leverenz, et al.

Human Mutation|September 13, 2013

Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effectsDong-Hui Chen, Alipi Naydenov, Jacqueline L Blankman, et al.

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Search research articles

Showing results (11-20 of 16) with videos related to

Sort By:

Pageof 2

You have reached the last page of results.This site can display upto 16 results.

Journal of the Neurological Sciences|July 17, 2010

A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutationsDong-Hui Chen, Wendy H Raskind, William W Parson, et al.

Plos One|April 28, 2016

Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of SpeechBeate Peter, Ellen M Wijsman, Alejandro Q Nato, et al.

American Journal of Human Genetics|June 4, 2016

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9LDong-Hui Chen, Jennifer E Below, Akiko Shimamura, et al.

American Journal of Human Genetics|March 20, 2003

Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxiaDong-Hui Chen, Zoran Brkanac, Christophe L M J Verlinde, et al.

Movement Disorders : Official Journal of the Movement Disorder Society|July 15, 2010

A novel X-linked four-repeat tauopathy with Parkinsonism and spasticityParvoneh Poorkaj, Wendy H Raskind, James B Leverenz, et al.

Human Mutation|September 13, 2013

Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effectsDong-Hui Chen, Alipi Naydenov, Jacqueline L Blankman, et al.

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