Results 191 to 200 of about 16,675 (221)

Somatic mosaicism in the δ-aminolevulinate dehydratase gene causing late-onset porphyria with erythroid-driven pathogenesis. [PDF]

Mol Genet Metab Rep
Vizerov T, Demina N, Ponomarev R, Lukina E, Pshenichnikova O, Selivanova D, Tabakov V, Ryzhkova O.   +7 more
europepmc   +1 more source

Pediatric primary ciliary dyskinesia with rare genetic variants: Synonymous RSPH4A and potential NFE2L2 modifier of DNAH9 phenotype - 2-case report. [PDF]

Medicine (Baltimore)
Guo C, Zhu Y, Lu H, Liu K.
europepmc   +1 more source

Genetic diagnosis of hereditary kidney disease in pediatric patients through whole-exome sequencing and mitochondrial DNA analysis. [PDF]

Kidney Res Clin Pract
Oh J, Lee K, Won D, Lee YM, Shin JI.
europepmc   +1 more source

Performance improvement of an X-ray ionization beam position monitor for soft X-ray free-electron lasers. [PDF]

J Synchrotron Radiat
Hwang S, Kim S, Song W, Lee S, Hahn G, Jang H, Jeong M, Kang G, Park S, Hyun H.   +9 more
europepmc   +1 more source

Mutation Spectrum of <i>ADAMTS13</i> Gene in Patients with Upshaw-Schulman Syndrome (USS) in Russia. [PDF]

Int J Mol Sci
Poznyakova J, Pshenichnikova O, Klebanova E, Galstyan G, Surin V.   +4 more
europepmc   +1 more source

Genetic landscape of hereditary spastic paraplegias in the Korean population. [PDF]

Sci Rep
Jang MA, Jang JH, Kim BJ, Sung DH.
europepmc   +1 more source

Treatment strategies, radiological recovery, and neurodevelopmental outcomes in paediatric Maple Syrup Urine Disease: a 20-year single-centre experience from Türkiye. [PDF]

Metab Brain Dis
Uylaş K, Yazıcı H, Altınok YA, Çelik MY, Karapınar FE, Özkaya PY, Isik E, Eraslan C, Canda E, Cogulu O, Karapınar B, Habif S, Çoker M, Uçar SK.   +13 more
europepmc   +1 more source

Ocular Phenotypes and Novel <i>SLC45A2</i> Variants in Patients with Oculocutaneous Albinism Type 4. [PDF]

Genes (Basel)
Chen C, Wang B, Zheng Y, Liu J, Yu X.
europepmc   +1 more source

Daily outdoor PM_2·5 exposure characterization and road edge effect during a 2022 - 2023 monitoring campaign in Gambia, Kenya and Mozambique. [PDF]

Atmos Environ X
Mushore TD, Nyoni HB, Munthali L, Makhanya SA, Chikoko L, Chapunza AM, Luchters S, Chersich M, Machingura F, Makacha L, Barratt B, Mistry HD, Volvert ML, Dumbura C, D'Alessandro U, Roca A, Sevene E, Cossa H, Temmerman M, Koech A, von Dadelszen P, Govindasamy T, Makanga PT, PRECISE Network, HEAT Centre.   +24 more
europepmc   +1 more source