Results 121 to 130 of about 3,461 (195)

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

Post-ACTH peak cortisol response is associated with genotype in children with nonclassic congenital adrenal hyperplasia. [PDF]

Front Endocrinol (Lausanne)
Dayno AN, Kilberg MJ, Gonter E, Gallop R, Squicciarini J, Montano C, Vogiatzi MG.   +6 more
europepmc   +1 more source

Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution. [PDF]

Eur J Hum Genet
Lildballe DL, Huno MR, Ridder LOR, Balle CM, Drue SO, Berglund A, Dunø M, Bak EN, Viuff MH, Rasmussen LS, Gravholt CH.   +10 more
europepmc   +1 more source

Severe Clinical Manifestation of a Salt Wasting Form of Congenital Adrenal Hyperplasia Harboring a Complex Genotype. [PDF]

Case Rep Endocrinol
Fylaktou I, Tsinopoulou VR, Sertedaki A, Kanaka-Gantenbein C, Galli-Tsinopoulou A.   +4 more
europepmc   +1 more source