Results 101 to 110 of about 1,383 (138)

The oculocerebrorenal syndrome of Lowe : three mutations in the OCRL-1 gene derived from three patients with different severe and moderate phenotypes

, 1997
openaire   +1 more source

Editorial: Advancements in understanding and managing preeclampsia: exploring molecular mechanisms, biomarkers, and clinical implications. [PDF]

Front Cell Dev Biol
Kant R, Manne RK, Karmakar S.
europepmc   +1 more source

Exploring the Shared Genetic Architectures Between Primary Open-Angle Glaucoma and Visual Pathway Regions in the Brain. [PDF]

Invest Ophthalmol Vis Sci
Aman AM, MacGregor S, Diaz-Torres S, Gharahkhani P.   +3 more
europepmc   +1 more source

Application of mRNA-Seq and Metagenomic Sequencing to Study <i>Salmonella pullorum</i> Infections in Chickens. [PDF]

Int J Mol Sci
Chao X, Fan Z, Wu J, Ye C, Wang X, Li R, Chen S, Zhang X, Fang C, Luo Q.   +9 more
europepmc   +1 more source

Structural basis for binding of RILPL1 to TMEM55B reveals a lysosomal platform for adaptor assembly through a conserved TBM motif

Waschbüsch D, Pal P, Nirujogi RS, Cavin M, Singh J, Alessi DR, Khan AR.   +6 more
europepmc   +1 more source

Roles in physiology and disease of the inositol phosphatase synaptojanin 1. [PDF]

Biochim Biophys Acta Mol Cell Biol Lipids
De Camilli P.
europepmc   +1 more source

Molecular and Genetic Determinants of Nephrocalcinosis: Mechanisms, Genotype-Phenotype Correlations, and Precision Medicine. [PDF]

Int J Mol Sci
Popa S, Grădinaru AC, Braha EE, Grămescu M, Babici R, Ailenei C, Butnariu LI.   +6 more
europepmc   +1 more source

Whole-Exome Sequencing for Molecular Diagnosis of Paediatric Nephrotic Syndrome in Africa: A Call for Implementation. [PDF]

Genes (Basel)
Gcobo T, Katsukunya JN, Lamola L, Awany D, Ndadza A, Dandara C, Mnika K.   +6 more
europepmc   +1 more source

In vivo CRISPR Activation Screening, a Powerful Tool to Discover Oncogenic Driver Genes in Hepatocellular Carcinoma. [PDF]

Cell Mol Gastroenterol Hepatol
Gad S, Ye R, Qiu W.
europepmc   +1 more source