Results 141 to 150 of about 4,375 (200)

Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype [PDF]

, 2015
Hsiang-Hung Shih, Ichizo Nishino, Megumu Ogawa, Michael Sacher, Satomi Mitsuhashi, Satoru Noguchi, Wen-Chen Liang, Wenhua Zhu, Yuh-Jyh Jong   +8 more
core   +1 more source

Initial presentation with elevated transaminases and subsequent hematuria in limb-girdle muscular dystrophy type 2B: A case report. [PDF]

Medicine (Baltimore)
Ji Z, Zheng H, Yang Y, Li D, Li Z, Guo X.   +5 more
europepmc   +1 more source

Climate emergency coping scale: development and validation of a multidimensional scale. [PDF]

Front Psychol
Díaz-Silveira C, Latorre F, Ganitsky-Chemby P, Burgos-Julián F, Vecina ML.   +4 more
europepmc   +1 more source

Phosphatidic acid drives spatiotemporal distribution of Pex30 at ER-LD contact sites. [PDF]

J Cell Biol
House M, Khadayat K, Trybala TN, Nambiar N, Jones E, Abel SM, Baccile J, Joshi AS.   +7 more
europepmc   +1 more source

Genomic profiling of thousands of candidate polymorphisms predicts risk of relapse in 778 Danish and German childhood acute lymphoblastic leukemia patients [PDF]

, 2015
Borst, L., Brunak, Søren, Dalgaard, Marlene Danner, Gautier, Laurent, Gupta, Ramneek, Koehler, R., Nordentoft, I., Rasmussen, K. K., Rasmussen, M., Sicheritz-Pontén, Thomas, Wehner, Peder Skov, Wesolowska, Agata, Yadav, Rachita, Ørntoft, T.F.   +13 more
core   +1 more source

Pex30-dependent membrane contact sites maintain ER lipid homeostasis. [PDF]

J Cell Biol
Ferreira JV, Ahmed Y, Heunis T, Jain A, Johnson E, Räschle M, Ernst R, Vanni S, Carvalho P.   +8 more
europepmc   +1 more source

DAB2 in LGMD R2: a molecular link between disease progression and lipid dysregulation. [PDF]

JCI Insight
Bruge C, Bourg N, Pellier E, Miagoux Q, Benabides M, Grossi N, Hayat H, Jarrige M, Polveche H, Agostini V, Brureau A, Vassilopoulos S, Evangelista T, Fernández-Eulate G, Stojkovic T, Richard I, Nissan X.   +16 more
europepmc   +1 more source

Investigação das causas genéticas de doenças primárias do músculo: a experiência da unidade de genética molecular do CGMJM [PDF]

, 2013
Gonçalves, A., Maia, N., Oliveira, J., Oliveira, M., Santos, R., Vieira, E.   +5 more
core  

FlyDEGdb knowledge base on differentially expressed genes of Drosophila melanogaster, a model object in biomedicine. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Podkolodnaya OA, Deryuzhenko MA, Tverdokhleb NN, Zolotareva KA, Makovka YV, Podkolodny NL, Suslov VV, Chadaeva IV, Fedoseeva LA, Seryapina AA, Oshchepkov DY, Bogomolov AG, Kondratyuk EY, Redina OE, Markel AL, Gruntenko NE, Ponomarenko MP.   +16 more
europepmc   +1 more source

Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy [PDF]

マツムラ, ツヨシ, 松村, 剛
core