Results 191 to 200 of about 213,728 (218)

Utility of High-Throughput Genomic Analysis for Genetic Counseling in Large Family with Wilson Disease Carrying a Novel 28-bp <i>ATP7B</i> Splice-Junction Deletion. [PDF]

Diagnostics (Basel)
Hnoonual A, Pongborriboon D, Wansom N, Kietsiriroje N, Plong-On O, Limprasert P.   +5 more
europepmc   +1 more source

Brugada ECG Pattern in Wilson Disease: Genetic Coincidence or Triggered Phenocopy? [PDF]

JACC Case Rep
Bantidos MG, Stachteas P, Nasoufidou A, Karagiannidis E, Fyntanidou V, Theocharidou E, Fragakis N.   +6 more
europepmc   +1 more source

LGMD R18 Mimicking Wilson Disease: 6-Year Longitudinal Muscle MRI Evolution and Clinical Insights into <i>TRAPPC11</i> Mutation. [PDF]

Diagnostics (Basel)
Chou YT, Chou HP, Chen YW.
europepmc   +1 more source

Generalized Dystonia in a Patient With Wilson Disease 5 Years After Liver Transplant: A Case Report. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Edwards E, Coleman B, Feldman M, Charles JH, Shpiner DS.   +4 more
europepmc   +1 more source

Recent advances in research on high-frequency mutations in the ATP7B gene associated with Wilson disease in the Chinese population: from genetic evolution to precision medicine. [PDF]

Front Mol Biosci
Xuan Q, Hua D, Sun L, Ma Q, Yang W, Wang H.   +5 more
europepmc   +1 more source

Mitochondrial dysfunction in Wilson disease: a systematic review and meta-analysis across human and animal models. [PDF]

Front Mol Biosci
Amin R, Medici V, Fausak ED, Sierra K, Li I, Gong J, Giulivi C.   +6 more
europepmc   +1 more source

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Related searches:

Wilson Disease

Neurologic Clinics, 2020
Jeff M. Bronstein
exaly  

A genetic study of Wilson's disease in the United Kingdom.

Brain, 2013
Magnus Rattray, Anil Dhawan, Nedim Hadzic   +2 more
exaly