Results 151 to 160 of about 41,434 (212)

Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool. [PDF]

Front Genet
Kušíková K, Hsieh TC, Pfeifer M, Fauth C, Murakami Y, Laccone F, Karall D, Bonfig W, Stewart H, Weis D.   +9 more
europepmc   +1 more source

A de Novo 2q23.1-2q23.3 duplication in a neonate with anemia, thrombocytopenia, and hypospadias: clinical and genomic characterization. [PDF]

Mol Cytogenet
Zhang B, Zhang C, Chen P, Hao R, An L.
europepmc   +1 more source

Eph-ephrin signaling and its potential role in female reproductive tract development. [PDF]

Mol Biol Rep
Prasun P.
europepmc   +1 more source

Correction: Maternal circulating GPIHBP1 levels and neonatal outcomes in patients with gestational diabetes mellitus: a pilot study. [PDF]

Front Clin Diabetes Healthc
Watanabe M, Eguchi J, Kurooka N, Eto E, Masuyama H, Wada J.   +5 more
europepmc   +1 more source

Biogenesis of Organelles and Membrane Proteins. [PDF]

, 1988
Harmey, Matthew A., Neupert, Walter, Nicholson, Donald W., Stuart, Rosemary A.   +3 more
core   +1 more source

A Case Report of a Child With Rare Phosphatidylinositol Glycan Anchor Biosynthesis Class N (PIGN) Gene Mutation With Hypotonia, Epilepsy, and Global Developmental Delay. [PDF]

Cureus
Khalifa HM, Alkayyat H, Jadah RHSH.
europepmc   +1 more source

First reported case of <i>Moraxella lacunata</i> bacteremia following pharyngitis in an adult with paroxysmal nocturnal hemoglobinemia receiving ravulizumab: A case report. [PDF]

IDCases
Osawa H, Shibutani K, Mori N.
europepmc   +1 more source

Endothelial Cell Regulation of Lipid Uptake During Feeding and Fasting. [PDF]

Arterioscler Thromb Vasc Biol
Goldberg IJ, Tirumalasetty M, Peche VS, Gaballa R, Cabodevilla AG, Komack M, Miao QR, Abumrad NA.   +7 more
europepmc   +1 more source

mRNA vaccines encoding variant forms of Sm-TSP-2 confer protective immunity against Schistosoma mansoni. [PDF]

NPJ Vaccines
de Oliveira AS, Alwan S, LoVerde PT, Shaheed R, Mandyam P, Adhikari R, Hotez P, Bottazzi ME, Pollet J.   +8 more
europepmc   +1 more source

Successful treatment of a resistant invasive disseminated Fusarium infection in an immunocompetent patient. [PDF]

Med Mycol Case Rep
Frantzeskaki F, Stratopoulos N, Elise van der Griend S, Renieris I, Thomas K, Tsagkaris I.   +5 more
europepmc   +1 more source