Results 121 to 130 of about 5,789 (209)

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population. [PDF]

Int J Mol Sci
Yanus GA, Suspitsin EN, Imyanitov EN.
europepmc   +1 more source

Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites

Neurology, 2012
R. Saunders-Pullman, D. Raymond, A. J. Stoessl, Douglas E. Hobson, T. Nakamura, S. L. Pullman, D. Lefton, Michael S. Okun, R. Uitti, Rivka Sachdev, Kaili Stanley, M. S. Luciano, J. Hagenah, Richard A. Gatti, Laurie J. Ozelius, S. Bressman   +15 more
semanticscholar   +1 more source

Revisiting the Genetics of Hypophosphatasia. [PDF]

J Inherit Metab Dis
Kishnani PS, Rehder C, Ozono K, Pérez-López J, Del Angel G, Mowrey WR, Balasubramanian M, Högler W, Rush ET.   +8 more
europepmc   +1 more source

Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2003
E. Puffenberger
semanticscholar   +1 more source

Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes. [PDF]

Orphanet J Rare Dis
Sulaiman RA, Altassan R, Alshammari R, Alsayed M, Sheikh AN, Nicolas-Jilwan M, Al-Owain M, Al-Hassnan Z.   +7 more
europepmc   +1 more source

Treatment strategies, radiological recovery, and neurodevelopmental outcomes in paediatric Maple Syrup Urine Disease: a 20-year single-centre experience from Türkiye. [PDF]

Metab Brain Dis
Uylaş K, Yazıcı H, Altınok YA, Çelik MY, Karapınar FE, Özkaya PY, Isik E, Eraslan C, Canda E, Cogulu O, Karapınar B, Habif S, Çoker M, Uçar SK.   +13 more
europepmc   +1 more source

Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian Population. [PDF]

Hum Mutat
Ling J, Pindwarawala M, Gregory-Evans CY, Kirby M, Gregory-Evans K.   +4 more
europepmc   +1 more source

Low Toxocara Seroprevalence in People in Rural Durango, Mexico. [PDF]

Eur J Microbiol Immunol (Bp), 2019
Alvarado-Esquivel C, Alvarado-Félix ÁO, Alvarado-Félix GA.   +2 more
europepmc   +1 more source

A Phenotypically Distinct Human Th2 Cell Subpopulation Is Associated With Development of Allergic Disorders in Infancy. [PDF]

Allergy
Pizzarello CR, Jackson CM, Herman K, Seppo AE, Rebhahn J, Scherzi T, Berin MC, Looney RJ, Mosmann TR, Järvinen KM.   +9 more
europepmc   +1 more source

Health Needs Assessment of Five Pennsylvania Plain Populations. [PDF]

Int J Environ Res Public Health, 2019
Miller K, Yost B, Abbott C, Thompson Buckland S, Dlugi E, Adams Z, Rajagopalan V, Schulman M, Hilfrank K, Cohen MA.   +9 more
europepmc   +1 more source