Results 151 to 160 of about 3,572 (228)

Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis. [PDF]

Genes (Basel), 2023
Capra AP, La Rosa MA, Briguori S, Civa R, Passarelli C, Agolini E, Novelli A, Briuglia S.   +7 more
europepmc   +1 more source

Identification of LAMA2 compound heterozygous variants: a case report. [PDF]

Transl Pediatr
Ying Y, Ye J, Shen J, Chen G, Jiang K.
europepmc   +1 more source

INSERT-seq enables high-resolution mapping of genomically integrated DNA using Nanopore sequencing. [PDF]

Genome Biol, 2022
Ivančić D, Mir-Pedrol J, Jaraba-Wallace J, Rafel N, Sanchez-Mejias A, Güell M.   +5 more
europepmc   +1 more source

Severe Systemic Calciphylaxis in a Young Cat [PDF]

Brandenburg, Budisavljevic, Declercq, Deitz, Demetriou, Edelstein, Feldman, Haberle, Hilbe, Kruger, Martin, Midkiff, Morita, Nakamura, Nigwekar, Petersen, Salvadori, Selye, Shelton, Shelton, Stern, Stockham, Tan, Thom, Yabuzoe   +24 more
core   +1 more source

Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients. [PDF]

Front Neurol, 2023
Huang X, Tan D, Zhang Z, Ge L, Liu J, Ding J, Yang H, Wei C, Chang X, Yuan Y, Yan C, Xiong H.   +11 more
europepmc   +1 more source

A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy. [PDF]

J Neuromuscul Dis
Enzmann C, Steiner L, Pospieszny K, Zweier C, Plattner K, Baumann D, Henzi B, Galiart E, Fink M, Jacquier D, Stettner GM, Ripellino P, Fluss J, Klein A, Swiss-Reg-NMD Group .   +14 more
europepmc   +1 more source

Editorial: Current Insights Into LAMA2 Disease. [PDF]

Front Mol Neurosci, 2021
Previtali SC, Cohn RD, Ruegg MA.
europepmc   +1 more source

A Novel Frameshift Mutation in Two Siblings with Merosin-deficient Congenital Muscular Dystrophy

Medical Bulletin of Haseki, 2017
Senem Ayça, Hamide Betül Gerik Çelebi, Sırrı Çam, M. Polat   +3 more
semanticscholar   +1 more source

A Prospective Study on the Feasibility and Effect of an Optimized Perioperative Care Protocol in Pediatric Neuromuscular Scoliosis Surgery. [PDF]

J Clin Med
Naume MM, Hoei-Hansen CE, Born AP, Brekke G, Høj A, Nielsen MR, Borgwardt L, Vissing J, Dirks J, Rye AKS, Møller MH, Andersen TB, Ørngreen MC.   +12 more
europepmc   +1 more source