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Journal of Medical Genetics|September 21, 2023
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseasesNicole Weisschuh, Pascale Mazzola, Theresia Zuleger, et al.
European Journal of Human Genetics : EJHG|June 2, 2021
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseasesBirte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, et al.
Journal of the American College of Cardiology|April 19, 2023
Clinical and Prognostic Relevance of Cardiac Wasting in Patients With Advanced CancerAlessia Lena, Ursula Wilkenshoff, Sara Hadzibegovic, et al.
Neurogenetics|December 22, 2005
The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's diseaseSilke Metzger, Peter Bauer, Juergen Tomiuk, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|March 28, 2018
Antitumor Activity of Nivolumab in Recurrent and Metastatic Nasopharyngeal Carcinoma: An International, Multicenter Study of the Mayo Clinic Phase 2 Consortium (NCI-9742)Brigette B Y Ma, Wan-Teck Lim, Boon-Cher Goh, et al.
Journal of Neurology|December 12, 2024
Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3Tim Lukas Elter, Daniel Sturm, Magda M Santana, et al.
JAMA|August 10, 2006
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson diseaseDemetrius M Maraganore, Mariza de Andrade, Alexis Elbaz, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 29, 2018
Early postnatal behavioral, cellular, and molecular changes in models of Huntington disease are reversible by HDAC inhibitionFlorian A Siebzehnrübl, Kerstin A Raber, Yvonne K Urbach, et al.
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