Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: MTMR2[original query] |
---|
[Update on hereditary neuropathy]. Rinsho shinkeigaku = Clinical neurology 2005 1 44 (11): 991-4. Nakagawa Masanori, Takashima Hiros |
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs). Annals of neurology 2019 5 86 (1): 55-67. Pareyson Davide, Stojkovic Tanya, Reilly Mary M, Leonard-Louis Sarah, Laurà Matilde, Blake Julian, Parman Yesim, Battaloglu Esra, Tazir Meriem, Bellatache Mounia, Bonello-Palot Nathalie, Lévy Nicolas, Sacconi Sabrina, Guimarães-Costa Raquel, Attarian Sharham, Latour Philippe, Solé Guilhem, Megarbane André, Horvath Rita, Ricci Giulia, Choi Byung-Ok, Schenone Angelo, Gemelli Chiara, Geroldi Alessandro, Sabatelli Mario, Luigetti Marco, Santoro Lucio, Manganelli Fiore, Quattrone Aldo, Valentino Paola, Murakami Tatsufumi, Scherer Steven S, Dankwa Lois, Shy Michael E, Bacon Chelsea J, Herrmann David N, Zambon Alberto, Tramacere Irene, Pisciotta Chiara, Magri Stefania, Previtali Stefano C, Bolino Alessand |
Looking for Sunshine: Genetic Predisposition to Sun Seeking in 265,000 Individuals of European Ancestry.
The Journal of investigative dermatology 2020 (4): 779-786. Sanna Marianna, Li Xin, Visconti Alessia, Freidin Maxim B, Sacco Chiara, Ribero Simone, Hysi Pirro, Bataille Veronique, Han Jiali, Falchi Mar |
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 |
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients. Molecular genetics & genomic medicine 2020 3 8 (5): e1205. Tsang Mandy H Y, Chiu Annie T G, Kwong Bernard M H, Liang Rui, Yu Mullin H C, Yeung Kit-San, Ho Wetor H L, Mak Christopher C Y, Leung Gordon K C, Pei Steven L C, Fung Jasmine L F, Wong Virginia C N, Muntoni Francesco, Chung Brian H Y, Chan Sophelia H |
Novel Genomic Regions Associated with Intramuscular Fatty Acid Composition in Rabbits. Animals : an open access journal from MDPI 2020 11 10 (11): . Laghouaouta Houda, Sosa-Madrid Bolívar Samuel, Zubiri-Gaitán Agostina, Hernández Pilar, Blasco Agust |
Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants. Frontiers in genetics 2021 8 12 682050. Ferese Rosangela, Campopiano Rosa, Scala Simona, D'Alessio Carmelo, Storto Marianna, Buttari Fabio, Centonze Diego, Logroscino Giancarlo, Zecca Chiara, Zampatti Stefania, Fornai Francesco, Cianci Vittoria, Manfroi Elisabetta, Giardina Emiliano, Magnani Mauro, Suppa Antonio, Novelli Giuseppe, Gambardella Stefa |
Genotype-phenotype characteristics of Vietnamese patients diagnosed with Charcot-Marie-Tooth disease. Brain and behavior 2022 8 12 (9): e2744. Nguyen-Le Trung-Hieu, Do Minh Duc, Le Linh Hoang Gia, Nhat Quynh Nhu Nguyen, Hoang Nghia Trong Tien, Van Le Tuan, Mai Thao Phuo |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
- Content source: