Results 101 to 110 of about 2,671 (159)

Defining an approach to empower clinical geneticists to do genomic reanalysis. [PDF]

BMC Med Genomics
Segal MM, McEntagart M, Deng AT, Haworth A, King B, Rogers A, Filby J, Short J, Hash MG, Rives LC, Ezell KM, Undiagnosed Diseases Network, Phillips JA.   +12 more
europepmc   +1 more source

Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants. [PDF]

Front Mol Biosci
Pushkov A, Chudakova D, Zhanin I, Nikitin S, Basargina E, Kuzenkova L, Andreeva D, Vasil'eva M, Vasichkin S, Gabitova A, Gaisina E, Saifullina E, Gamzatova A, Gilvanova O, Dudin V, Ergina O, Kurbatov S, Noskova E, Osipova E, Tihonova O, Fedotova E, Nuzhny E, Chernikova V, Yamshchikova A, Kyzina L, Irinina N, Rohlenko O, Kutkova Y, Popkova N, Ahunova A, Alexeeva A, Mazanova N, Sdvigova N, Gandaeva L, Zharova O, Podkletnova T, Sukhozhenko A, Rusakova A, Demianov D, Pakhomov A, Fisenko A, Savostyanov K.   +41 more
europepmc   +1 more source

A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies. [PDF]

Hum Genomics
Khalilian S, Fathi M, Tangestani R, Larki P, Sayad A, Ghafouri-Fard S, Miryounesi M.   +6 more
europepmc   +1 more source

Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency. [PDF]

Hum Mutat
Krag T, Nasho E, Brady L, Verebi C, Leturcq F, Malfatti E, Duno M, Tarnopolsky M, Vissing J.   +8 more
europepmc   +1 more source

Autosomal Dominant Calpainopathy in a Diabetic Patient Complicated by Functional Gitelman Syndrome. [PDF]

Case Rep Med
Peterpalaniswami KM, Madhavan K, Mathew GG, Jayaprakash V.   +3 more
europepmc   +1 more source

The N-Terminal Fragment of Urine Titin Is Not a Product of Degradation by Calpain 3. [PDF]

Muscle Nerve
Nambu Y, Matsumura T, Machida K, Tsutsumi R, Hata S, Shinkai-Ouchi F, Ono Y, Osawa K, Shirakawa T, Bo R, Nishio H, Sakaue H, Awano H, Matsuo M.   +13 more
europepmc   +1 more source

A rare homozygous <i>CAPN3</i> variant with distinct clinical features in unrelated families of Iraqi Jewish descent. [PDF]

J Neuromuscul Dis
Assia Batzir N, Orenstein N, Yaron Y, Kuzminsky A, Nevo Y, Konen O, Bazak L, Lidzbarsky G, Basel-Salmon L, Aharoni S.   +9 more
europepmc   +1 more source

Prognostic and immunological roles of ammonia-induced cell death-related genes in non-small cell lung cancer. [PDF]

BMC Pulm Med
Li H, Xue K, Pei J, Ma X, Zhao X, Zhang C.   +5 more
europepmc   +1 more source

RNA Mis-Splicing Effects of Noncanonical Splicing Variants in Limb-Girdle Muscular Dystrophy Type R1/2A. [PDF]

Neurol Genet
Wang G, Liu H, Yang G, Gu S, Yan C, Lin P.   +5 more
europepmc   +1 more source

Case report: A single novel calpain 3 gene variant associated with mild myopathy. [PDF]

Front Genet
Massucco S, Fossa P, Fiorillo C, Faedo E, Gemelli C, Barresi R, Ripolone M, Patrone S, Gaudio A, Mandich P, Gotta F, Baratto S, Traverso M, Pisciotta L, Zaottini F, Camera M, Scarsi E, Grandis M.   +17 more
europepmc   +1 more source