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Clinical Genetics (M.D.) Physician in Portland, OR
NPI: 1558686394Primary Practice Location
SHRINERS HOSPITAL FOR CHILDREN - PORTLAND
3101 Sw Sam Jackson Park Rd, Portland, OR
Primary Employer
Shriners Hospitals for Children - Erie Ambulatory Surgery Center
shrinerschildrens.org
HQ Phone
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A new NBIA patient from Turkey with homozygous C19ORF12 mutation.
Authors: Betul Derinkuyu, Susan Hayflick
Publication Date: 2018-06-28
Authors: Ada Hamosh, Camilo Toro, David Stevenson, Jennifer Bassetti, Joel Krier, Derek Wong, Luis Rohena, Michelle Sahagian, Brent Fogel, Susan Hayflick, Nutan Sharma, Jennifer Friedman, Jeff Waugh, Meredith Allain, Kathleen Gorman, Sanaz Attaripour-Isfahani, Julian Martinez
Journal: ArXiv
Publication Date: 2025-02-10
Missense variant in RBM10 associated with mild and non-lethal form of TARP syndrome.
Authors: Potter, Amiee B, O'Brien, Timothy D, Kulkarni, Arpita, McCabe, Sarah, Matthews, Kathryn, Kovak, Karen, Rogers, Caleb, Richards, C Sue, Moore, Stephen
Journal: Clin Genet
Publication Date: 2023-03-18