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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 8 (of 8 Records)

Query Trace: Disease and CLCN1[original query]
SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.
European journal of human genetics : EJHG 2015 Jun .
Bissay Véronique, Van Malderen Sophie C H, Keymolen Kathelijn, Lissens Willy, Peeters Uschi, Daneels Dorien, Jansen Anna C, Pappaert Gudrun, Brugada Pedro, De Keyser Jacques, Van Dooren Son
Identification of novel mutations of the CLCN1 gene for myotonia congenital in China.
Neurological research 2016 Jan 38 (1): 40-4.
Meng Yan-Xin, Zhao Zhe, Shen Hong-Rui, Bing Qi, Hu Ji
Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients.
Journal of genetics 2019 9 98 .
Milla Carmen Palma, De Castro Carmen Prior, Gómez-González Clara, Martínez-Montero Paloma, Pascual Pascual Samuel I, Molano Mateos Jes
Evaluation of Cases with Myotonia Congenita for Cardiovascular Risk.
Medeniyet medical journal 2020 8 34 (4): 374-379.
Damar Ibrahim Halil, Eroz Rec
Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia.
Biomedicines 2020 5 8 (5): .
Maksemous Neven, Sutherland Heidi G, Smith Robert A, Haupt Larisa M, Griffiths Lyn
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
European journal of human genetics : EJHG 2020 Mar .
Hengel Holger, Buchert Rebecca, Sturm Marc, Haack Tobias B, Schelling Yvonne, Mahajnah Muhammad, Sharkia Rajech, Azem Abdussalam, Balousha Ghassan, Ghanem Zaid, Falana Mohammed, Balousha Osama, Ayesh Suhail, Keimer Reinhard, Deigendesch Werner, Zaidan Jimmy, Marzouqa Hiyam, Bauer Peter, Schöls Ludg
Novel Variants in the CLCN1, RYR2, and DCTN1 Found in Elderly Japanese Dementia Patients: A Case Series.
Geriatrics (Basel, Switzerland) 2021 2 6 (1): .
Hori Atsushi, Ai Tomohiko, Isshiki Miwa, Motoi Yumiko, Yano Kouji, Tabe Yoko, Hattori Nobutaka, Miida Takas
Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects.
European journal of medical genetics 2022 1 65 (2): 104426.
Orlov Igor E, Laidus Tatiana A, Tumakova Anastasia V, Yanus Grigoriy A, Iyevleva Aglaya G, Sokolenko Anna P, Bizin Ilya V, Imyanitov Evgeny N, Suspitsin Evgeny
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