Results 81 to 90 of about 3,999 (130)

Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients. [PDF]

Eur J Hum Genet
Zanotti S, Magri F, Salani S, Napoli L, Ripolone M, Pagliarani S, Ronchi D, Fortunato F, Ciscato P, Cassandrini D, Fattori F, D'Angelo MG, Albamonte E, Nigro V, Sciacco M, Corti S, Comi GP, Piga D.   +17 more
europepmc   +1 more source

Whole Genome Sequence Identifies the Second Allele: An Intronic Variant in RYR1 Contributes to Early-Onset Fetal Akinesia Deformation Sequence. [PDF]

Mol Syndromol
Wang M, Hong J, Han S, Jin P, Xu C, Qian Y, Dong M.   +6 more
europepmc   +1 more source

Pregnancy outcomes in idiopathic inflammatory myopathies: a Portuguese multicentre study. [PDF]

Front Med (Lausanne)
Lopes AR, Teodósio Chícharo A, Campanilho-Marques R, Abreu C, Rodrigues SD, Santos I, Paramés F, Barreira SC, Pulido-Valente M, Pinto L, Cruz-Machado AR, Capela S.   +11 more
europepmc   +1 more source

Deep phenotyping using foetal MRI. [PDF]

Med Genet
Kasprian G, Mitter C, Moser P.
europepmc   +1 more source

The role of genetics and molecular mechanisms in early onset scoliosis. [PDF]

J Clin Orthop Trauma
Feng S, Feng S, Du Y, Choi SW, Cheung KSC, Cheung JPY, Su Z.   +6 more
europepmc   +1 more source

RYR 1 Gene Mutation in Motor Neuron Disease: A 10-Year Case Observation. [PDF]

Case Rep Neurol Med
Posa A, Kornhuber M.
europepmc   +1 more source

Integrative Multi-Omics and Network Analyses Reveal Pathogenic and Protective Pathways in Centronuclear Myopathies. [PDF]

Int J Mol Sci
Simon A, Gineste C, Reiss D, Thompson JD, Laporte J.   +4 more
europepmc   +1 more source

X-linked Emery-Dreifuss muscular dystrophy caused by a novel <i>FHL1</i> mutation: A case report. [PDF]

J Int Med Res
Zhang H, Tang S, Zhang W, Wang W, Tang W.   +4 more
europepmc   +1 more source

Suspected Macrocreatine Kinase Type 1 in an Asymptomatic Young Cat. [PDF]

Case Rep Vet Med
Kambayashi S, Baba K, Ide Y, Nishibori S, Ando T, Ikezawa H.   +5 more
europepmc   +1 more source

High-performance liquid chromatography screening reveals HbS/β+-thalassemia double heterozygosity as a pediatric muscular dystrophy mimic. [PDF]

Lab Med
López-Medina C, Portell-Rigo IM, González-Iribarren V, González-Oller C, Sánchez-Crespo A, Molina-Arrebola MA.   +5 more
europepmc   +1 more source