Výsledky vyhledávání - "Nikki Ledbetter"

Toward clinical genomics in everyday medicine: perspectives and recommendations

Publikováno v: Expert review of molecular diagnostics, vol 16, iss 5
Expert Review of Molecular Diagnostics

Precision or personalized medicine through clinical genome and exome sequencing has been described by some as a revolution that could transform healthcare delivery, yet it is currently used in only a small fraction of patients, principally for the di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ec14242b8194bc09be3894638cd855d
http://hdl.handle.net/11562/960626

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Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency

Autor: William B. Dobyns, Daniel Moreno-De-Luca, Holly H. Zimmerman, Omar A. Abdul-Rahman, Colette C. Parker, Christa Lese Martin, Christopher W. Carr, Nikki Ledbetter

Publikováno v: European journal of human genetics : EJHG. 18(11)

Human FOXP2 deficiency has been identified as a cause of hereditary developmental verbal dyspraxia. Another member of the same gene family, FOXP1, has expression patterns that overlap with FOXP2 in some areas of the brain, and FOXP1 and FOXP2 have th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fe056ce3f777c3c3dce18650dc0df1c
https://pubmed.ncbi.nlm.nih.gov/20571508

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