Results 91 to 100 of about 2,714 (169)

Diagnosing CAH-X syndrome by long-read sequencing and identifying a novel genotype. [PDF]

Orphanet J Rare Dis
Li Z, Xu S, Fu Q, Du L, Lin Q, Lin H, E H, Liu H.   +7 more
europepmc   +1 more source

Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques. [PDF]

Front Endocrinol (Lausanne)
de Miranda MC, de Oliveira ACM, Soares GJ, Batatinha JAP, Latronico AC, Mendonca BB, Bachega TASS.   +6 more
europepmc   +1 more source

[Congenital adrenal hyperplasia]. [PDF]

Probl Endokrinol (Mosk)
Vorontsova MV, Kokorina TS, Nuralieva NF, Yukina MY, Troshina EA, Melnichenko GA, Mokrysheva NG.   +6 more
europepmc   +1 more source

Congenital Adrenal Hyperplasia in the Mediterranean: A Concise Overview. [PDF]

Pharmaceuticals (Basel)
Fanis P, Skordis N, Tomazou M, Phylactou LA, Neocleous V.   +4 more
europepmc   +1 more source

Multi-Omics Mendelian Randomization and Colocalization Reveal Key Glycolipid Metabolism-Related Genes in Gestational Diabetes Mellitus. [PDF]

Int J Womens Health
Lin X, Zheng J, Qin N, Li Y.
europepmc   +1 more source

The role of Zearalenone in epigenetic modifications of candidate genes in Nellore heifers. [PDF]

Trop Anim Health Prod
Coelho LADS, Barbero RP, Pereira PRMT, Polido CEB, de Aguiar ACSR, Santos HA, de Mello MRB, Kern EL, Andia DC, Barbero MMD.   +9 more
europepmc   +1 more source

Steroidome Dysregulation and Complement C4 Copy Number Variation in Men With Central Serous Chorioretinopathy. [PDF]

Invest Ophthalmol Vis Sci
Zola M, Han JH, Quinodoz M, Bousquet E, Matet A, Kowalczuk L, Daruich A, Zhao M, Ullah M, Rivolta C, Eandi C, Arsenijevicz Y, Pussard E, Behar-Cohen F.   +13 more
europepmc   +1 more source

A Cross-Tissue Transcriptome-Wide Association Study Identifies Novel Susceptibility Genes for Glomerular Diseases. [PDF]

Biomedicines
Mao L, Xu L, Zhu T, Liu X, Li Z.
europepmc   +1 more source

MLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening. [PDF]

J Transl Med
Zhao Z, Zhao G, Li S, Yuan C, Feng J, Tang W, Fu X, Li H, Zhu J, Zhao X, Wu D, Kong X.   +11 more
europepmc   +1 more source

Nonclassic congenital adrenal hyperplasia and bilateral pheochromocytomas in a patient with a germline pathogenic <i>MAX</i> variant. [PDF]

JCEM Case Rep
Parisien-La Salle S, Legault J, Dumas N, Arjane P, Trudel D, Bourdeau I.   +5 more
europepmc   +1 more source