Results 171 to 180 of about 6,020 (257)

Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China. [PDF]

Int J Neonatal Screen
Wang X, Lu X, Zheng F, Lin K, Liao M, Dong Y, Chen T, He Y, Lu M, Chen J, Li Y, Zhou Y.   +11 more
europepmc   +1 more source

Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia [PDF]

, 2014
Ingeborg Brønstad, Lars Breivik, Paal Methlie, Anette S. B. Wolff, Eirik Bratland, Ingrid Nermoen, Kristian Løvås, Eystein S. Husebye   +7 more
openalex   +1 more source

Unique Case Report: A Rare Association of 21-Hydroxylase Deficiency with Triple X Karyotype. [PDF]

Genes (Basel)
de Sousa Azulay RS, Facundo AN, Sousa SSE, Nascimento GC, Magalhães M, de Oliveira Neto CP, de Abreu JDMF, Lago DCF, da Silva Pereira Damianse S, de Carvalho VC, Nascimento CA, Rodrigues VP, Coeli-Lacchini FB, de Castro M, Dos Santos Faria M.   +14 more
europepmc   +1 more source

Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia [PDF]

, 2016
Ruqayah G. Y. Al‐Obaidi, Bassam Musa Sadik Al-Musawi, Munib A. Alzubaidi, Christian Oberkanins, S Németh, Yusra G. Y. Al-Obaidi   +5 more
openalex   +1 more source

CYP21A2 Gene [PDF]

, 2020
openaire   +1 more source

Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications. [PDF]

J Endocr Soc
Concolino P, Falhammar H.
europepmc   +1 more source

Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia

Indian Journal of Pediatrics, 2022
S. Saraf, P. Srivastava, I. Panigrahi, Venu Seenappa, Rakesh Kumar, Jaivinder Yadav, Roshan Daniel, D. Dayal   +7 more
semanticscholar   +1 more source

High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands. [PDF]

Hum Genomics
Wang Y, Zhu G, Li D, Pan Y, Li R, Zhou T, Mao A, Chen L, Zhu J, Zhu M.   +9 more
europepmc   +1 more source

A kardiovaszkuláris rizikó és a C4B gén hiányos haplotípusok közötti kapcsolat mechanizmusának vizsgálata [PDF]

, 2014
Bánlaki Zsófia
core   +1 more source

Nanoparticles with curcumin and piperine modulate steroid biosynthesis in prostate cancer. [PDF]

Sci Rep
Yakubu J, Natsaridis E, du Toit T, Barata IS, Tagit O, Pandey AV.   +5 more
europepmc   +1 more source