Results 81 to 90 of about 520 (132)

Understanding the role of KLHL41 interactors in nemaline myopathy [PDF]

, 2016
Nemaline Myopathy is a congenital disorder that is characterized by muscle weakness and limited mobility. Clinically, Nemaline Myopathy is highly heterogeneous, ranging from severe congenital forms with neonatal death to more mild childhood and adult ...
Jirka, Caroline
core  

Zebrafish as an Emerging Model for Sarcopenia: Considerations, Current Insights, and Future Directions. [PDF]

Int J Mol Sci, 2023
Callegari S, Mirzaei F, Agbaria L, Shariff S, Kantawala B, Moronge D, Ogendi BMO.   +6 more
europepmc   +1 more source

Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period. [PDF]

Neurol Genet
Cicala G, Mccauley J, Phadke R, Mueller J, Robb SA, Manzur AY, Munot P, Baranello G, Scoto M, Tedesco FS, Mein RA, Walsh C, Muntoni F, Sarkozy A.   +13 more
europepmc   +1 more source

Rapid functional RNA Analysis via amniocyte transdifferentiation resolves prenatal variant ambiguity in fetal akinesia syndrome. [PDF]

Genet Med Open
Qi Y, Sun J, He W, Wu J, Yin A.
europepmc   +1 more source

Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders. [PDF]

Genome Med
Xiao B, Liu H, Sun Y, Su X, Chinese Medical Doctor Association of Genetics Counselling Board, Xie X, Xu Z, Ren F, Peng Y, Hui L, Xu L, Zhang C, Duan J, Zhang J, Li J, Xue S, Liao S, Liu L, Zhao Z, Yuan D, Qiu J, Zhang F, Huang Y, Ha Y, Yu L, Tang K, Li X, Pan W, Shu J, Zhu J, Meng L, Xu C, Mao A, Yan N, Yu Y.   +34 more
europepmc   +1 more source

Differently Expressed Circular RNAs in Lacrimal Sacs From Patients With Chronic Dacryocystitis. [PDF]

Front Genet, 2022
Li Y, Liu X, Zhang W, Song X, Zhang L, Xiao C.   +5 more
europepmc   +1 more source

Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis. [PDF]

Brief Bioinform, 2023
Wang R, Helbig I, Edmondson AC, Lin L, Xing Y.   +4 more
europepmc   +1 more source

Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome. [PDF]

Genes (Basel), 2022
Najjar D, Chikhaoui A, Zarrouk S, Azouz S, Kamoun W, Nassib N, Bouchoucha S, Yacoub-Youssef H.   +7 more
europepmc   +1 more source

Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy. [PDF]

Neurol Genet
Hildebrandt C, Genetti CA, Logvinenko T, Win W, Barraza-Flores P, Hayes LH, Rockowitz S, Lehtokari VL, Iannaccone ST, Darras BT, Topaloglu H, Wallgren-Pettersson C, Beggs AH.   +12 more
europepmc   +1 more source

A Label-Free Quantitative Analysis for the Search of Proteomic Differences between Goat Breeds. [PDF]

Animals (Basel), 2022
Di Luca A, Ianni A, Bennato F, Henry M, Meleady P, Martino G.   +5 more
europepmc   +1 more source