Publications by authors named "Samuel P Yang"

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Congenital myasthenic syndrome caused by a frameshift insertion mutation in .
Szabolcs Szelinger, Jonida Krate, Keri Ramsey, Samuel P Strom, Perry B Shieh, Samuel P Yang

Neurol Genet· August 2020

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Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.
Marisa W Friederich, Francisco A Perez, Kaz M Knight, Roxanne A Van Hove, Samuel P Yang

Mol Genet Metab· March 2020

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Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Cyril Mignot, Aoife C McMahon, Claire Bar, Philippe M Campeau, Claire Davidson, Samuel P Yang

Genet Med· August 2019

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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Cyril Mignot, Aoife C McMahon, Claire Bar, Philippe M Campeau, Claire Davidson, Samuel P Yang

Genet Med· April 2019

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Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
Jirair K Bedoyan, Samuel P Yang, Sacha Ferdinandusse, Rhona M Jack, Alexander Miron

Mol Genet Metab· April 2017

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Large clinically consequential imbalances detected at the breakpoints of apparently balanced and inherited chromosome rearrangements.
Sarah T South, Lyndsey Rector, Emily Aston, Leslie Rowe, Samuel P Yang

J Mol Diagn· September 2010

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Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes syndrome with hypothyroidism and focal segmental glomerulosclerosis in a paediatric patient.
Keith K Lau, Samuel P Yang, Maha N Haddad, Lavjay Butani, Sudesh P Makker

Int Urol Nephrol· January 2008

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Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Donna M McDonald-McGinn, Anne Reilly, Carina Wallgren-Pettersson, H Eugene Hoyme, Samuel P Yang

Am J Med Genet A· April 2006

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Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation.
Erik A Eklund, Liangwu Sun, Samuel P Yang, Romela M Pasion, Erik C Thorland

Biochem Biophys Res Commun· January 2006

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Multispecialty telephone and e-mail consultation for patients with developmental disabilities in rural California.
Donald M Hilty, Rick L Ingraham, Samuel P Yang, Thomas F Anders

Telemed J E Health· March 2005

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