Results 271 to 280 of about 125,272 (358)

Epilepsy Phenotypic Spectrum of NUS1‐Related Disorder: A Case Series

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%–2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo‐B receptor (NgBR), which stabilizes the dehydrodolichyl‐diphosphate synthase complex in the endoplasmic ...
Saumel Ahmadi, Natalie Fulton, Michael Morrissey, Rebekah Landre, Stuart Tomko, Fumihiko Urano, Réjean M Guerriero   +6 more
wiley   +1 more source

Germline and somatic mutations in histologically atypical congenital hyperinsulinism. [PDF]

Front Endocrinol (Lausanne)
Larsen AR, Globa E, Andersen DC, Limbert C, Mattsson ÅL, Nielsen AL, Mortensen MB, Hejbøl EK, Brusgaard K, Detlefsen S, Christesen HT.   +10 more
europepmc   +1 more source

Effect of confining pressure on fracture characteristics and mineralogical behavior of tight sandstone specimens after hydraulic fracturing

Deep Underground Science and Engineering, EarlyView.
Hydraulic fracturing in tight sandstone and fracture propagation characteristics using backscattered electron‐scanning electron microscope (BSE‐SEM) images. Abstract This study focuses on hydraulic fracturing experiments conducted under triaxial conditions on tight sandstone specimens from Shivpuri district, Madhya Pradesh, India.
Pankaj Rawat, Narendra Kumar Samadhiya
wiley   +1 more source

Mixed Gonadal Dysgenesis: A Comprehensive Review of Clinical Spectrum, Diagnostic Strategies, and Management Approaches. [PDF]

Clin Endocrinol (Oxf)
Giri D, Yewale S, Hickingbotham H, Williams C, Shalaby M, Alderson J, Park J.   +6 more
europepmc   +1 more source

Contraception and Abortifacients [PDF]

, 1971
Diamond, Eugene F.
core   +1 more source

Myomaker and Myomixer are required for craniofacial myoblast fusion in zebrafish

Developmental Dynamics, EarlyView.
Abstract Background Craniofacial and trunk skeletal muscles are derived from different progenitor populations during development. Trunk skeletal muscles contain mostly multinucleated myofibers that are formed through myoblast fusion. However, myoblast fusion in craniofacial muscles and its molecular regulation are not well understood.
Zhanxiong Zhang, Pengzheng Yong, Qiaomu Hu, Shaojun Du   +3 more
wiley   +1 more source

Prenatal diagnosis of Prader-Willi syndrome via maternal UPD15 with placental mosaicism: incidental discovery of fetal DMD carrier status. [PDF]

Front Genet
Ye Y, Fu Y, Zhang Z, Ning H, Tao F, Wang X, Fang Q, Chen Z, Hao X.   +8 more
europepmc   +1 more source

Investigations of Mosaic Panels on the Facades of the Grand Ducal Burial Chapel in the Peter and Paul Fortress. Restoration Issues

М.Г. Рогозный, И.Ю. Прохин   +1 more
openalex   +1 more source

Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling

Developmental Dynamics, EarlyView.
Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff, Sandra Schrenk, Kara Soroko, Chhiring Sherpa, Ashok Arasu, Damien Reynaud, Elisa Boscolo   +6 more
wiley   +1 more source

Performance and clinical implications of non-invasive prenatal testing for rare chromosomal abnormalities: a retrospective study of 94,125 cases. [PDF]

Front Mol Biosci
Qi H, Chen H, Zhang Z, Gan J, Liu H, Yuan X, Luo F, Chen J, Shen S.   +8 more
europepmc   +1 more source