scholarly journals HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec

2019 ◽  
Vol 7 (12) ◽  
Author(s):  
Paula J. Waters ◽  
Baiba Lace ◽  
Daniela Buhas ◽  
Serge Gravel ◽  
Denis Cyr ◽  
...  
Keyword(s):  
Mitochondrial Disease ◽  
Founder Effect ◽  
Clinical Phenotype ◽  
French Canadian ◽  
Mild Clinical Phenotype

Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype

2016 ◽  
Vol 55 (1) ◽  
pp. 46-50 ◽  
Author(s):  
Roser Pons ◽  
Kyriaki Kekou ◽  
Artemis Gkika ◽  
George Papadimas ◽  
Nikolaos Vogiatzakis ◽  
...  
Keyword(s):  
Amino Acid ◽  
Clinical Phenotype ◽  
Single Amino Acid ◽  
Dystrophin Protein ◽  
Mild Clinical Phenotype

Missense mutations inN-acetylglucosamine-1-phosphotransferase α/β subunit gene in a patient with mucolipidosis III and a mild clinical phenotype

2005 ◽  
Vol 137A (3) ◽  
pp. 235-240 ◽  
Author(s):  
Stephan Tiede ◽  
Nicole Muschol ◽  
Gert Reutter ◽  
Michael Cantz ◽  
Kurt Ullrich ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Missense Mutations ◽  
Β Subunit ◽  
Subunit Gene ◽  
Mild Clinical Phenotype

Deletion of chromosomal region Xq28 cause of Hunter syndrome in a patient with mild clinical phenotype

2019 ◽  
Vol 126 (2) ◽  
pp. S156
Author(s):  
Natalia V. Zhurkova ◽  
Kirill Victorovich Savostyanov ◽  
Alexandr Andreevich Pushkov ◽  
Tatiana Vladimirovna Podkletnova ◽  
Nato Dzhumberovna Vashakmadze ◽  
...  
Keyword(s):  
Chromosomal Region ◽  
Clinical Phenotype ◽  
Hunter Syndrome ◽  
Mild Clinical Phenotype

scholarly journals 22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral Spectrum

2020 ◽  
Vol 11 (3) ◽  
pp. 146-152
Author(s):  
Anikó Ujfalusi ◽  
Orsolya Nagy ◽  
Beáta Bessenyei ◽  
Györgyi Lente ◽  
Irén Kántor ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Mild Clinical Phenotype

Presence of a mild clinical phenotype in a kindred with familial WPW

Heart Rhythm ◽  
2005 ◽  
Vol 2 (5) ◽  
pp. S311
Author(s):  
Kathryn A. Glatter ◽  
Nipavan Chiamvimonvat ◽  
Dipika Tuteja ◽  
Anil Singapuri
Keyword(s):  
Clinical Phenotype ◽  
Mild Clinical Phenotype

scholarly journals LRPPRCmutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

Brain ◽  
2015 ◽  
Vol 138 (12) ◽  
pp. 3503-3519 ◽  
Author(s):  
Monika Oláhová ◽  
Steven A. Hardy ◽  
Julie Hall ◽  
John W. Yarham ◽  
Tobias B. Haack ◽  
...  
Keyword(s):  
Mitochondrial Disease ◽  
Early Onset ◽  
French Canadian ◽  
Canadian Population
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