Publications by authors named "Grace J Noh"

6Publications

Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.

Am J Hum Genet 2019 01 27;104(1):179-185. Epub 2018 Dec 27.

Department of Biochemistry and Molecular Biology, Pennsylvania State University College of Medicine, 500 University Drive, Hershey, PA 17033, USA. Electronic address:

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January 2019

2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.

Eur J Med Genet 2012 May 29;55(5):354-7. Epub 2012 May 29.

Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Blvd, Los Angeles, CA 90048, USA.

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May 2012

Clinical review of genetic epileptic encephalopathies.

Eur J Med Genet 2012 May 25;55(5):281-98. Epub 2012 Jan 25.

Clinical Genetics and Dysmorphology, Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Blvd, Los Angeles, CA 90048, USA.

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May 2012

2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.

Eur J Med Genet 2012 Jan 24;55(1):59-62. Epub 2011 Oct 24.

Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Blvd, PACT, Suite 400, Los Angeles, CA 90048, USA.

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January 2012