Results 191 to 200 of about 13,826 (249)

Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS). [PDF]

Genes (Basel)
Hammoud M, Domínguez-Ruiz M, Assiri I, Rodrigues D, Aboussair N, Lanza VF, Villarrubia J, Colón C, Fdil N, Del Castillo FJ.   +9 more
europepmc   +1 more source

Mapping Lysosomal Storage Disorders with Neurological Features by Cellular Pathways: Towards Precision Medicine. [PDF]

Curr Issues Mol Biol
Makridou A, Sintou E, Chatzianagnosti S, Gargani S, Manthou ME, Dermitzakis I, Theotokis P.   +6 more
europepmc   +1 more source

Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices. [PDF]

Front Genet
Huang Y, Deng W, Huang H, Zhang X, Chen X, Ye J, Luo S, Yu T, Yao H, Du H, He X.   +10 more
europepmc   +1 more source

Effects of Intercropped Insectary Plants (Sweet Alyssum, Coriander, and White Mustard) on Elemental Composition and Antioxidant Levels in Broad Bean Plants. [PDF]

Molecules
Gospodarek J, Tamiru G, Nadgórska-Socha A, Kandziora-Ciupa M, Paśmionka IB.   +4 more
europepmc   +1 more source

Funktionelle Studien zur Arylsulfatase K (Arsk) anhand eines Arsk-defizienten Mausmodells

, 2018
Christof Trabszo
openalex   +1 more source

How do different cell populations orchestrate myelin regeneration? [PDF]

Biochem Soc Trans
Grassi S, Prinetti A.
europepmc   +1 more source

A novel homozygous <i>PSAP</i> mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report. [PDF]

J Int Med Res
Li X, Kuang X, Huang G, Liu Z, Yan S.
europepmc   +1 more source

Prenatal exposure to Bisphenol-A as a risk factor for infant neurodevelopment. [PDF]

Front Endocrinol (Lausanne)
Bello-Cortes IH, García-García JA, Gutiérrez-Aguilar M, Araiza-Olivera D, Sánchez-Pérez C, García-Cerón G, Morán-Ramos S, Tovar H, Bonilla-Brunner A, García-Arrazola R.   +9 more
europepmc   +1 more source

Structural and Functional Integration of Tissue-Nonspecific Alkaline Phosphatase Within the Alkaline Phosphatase Superfamily: Evolutionary Insights and Functional Implications. [PDF]

Metabolites
Imam I, Rautureau GJP, Violot S, Drevet Mulard E, Magne D, Ballut L.   +5 more
europepmc   +1 more source