Results 131 to 140 of about 7,344,533 (183)

Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges. [PDF]

Genes (Basel)
Glotov AS, Nasykhova YA, Lazareva TE, Dvoynova NM, Shabanova ES, Danilova MM, Osinovskaya NS, Barbitoff YA, Maretina MA, Gorodnicheva EE, Tonyan ZN, Kiselev AV, Basipova AA, Bespalova ON, Kogan IY.   +14 more
europepmc   +1 more source

Exploration of the potential of genomic editing in the treatment of congenital adrenal hyperplasia. [PDF]

Front Endocrinol (Lausanne)
Graves LE, Christina S, Mullany KL, Alexander IE, Falhammar H.   +4 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

Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns. [PDF]

Genome Med
Liang D, Zhu M, Liang Q, Qiang R, Yu L, Xu S, Li M, Song J, Zhou Y, He X, Huang Y, Jin H, Tan J, Liu H, Xia A, Liu Y, Liu P, Li Z, Wang R, Wang D, Zhang R, Pu Q, Zhou J, Xu R, Wang X, Tan M, Chen D, Wu C, Cui D, Mao A, Zhou W, Qiu W, Wu L.   +32 more
europepmc   +1 more source

Significance of a Three-Missense Pathogenic Variant in the Substrate-Binding Lesion in a Subject With 21-Hydroxylase Deficiency: A Case Report. [PDF]

Cureus
Harada A, Anno T, Isobe H, Kaku K, Kaneto H.   +4 more
europepmc   +1 more source

Renalase stimulates aldosterone production via PMCA4b/cAMP in NCI-H295R cells. [PDF]

J Enzyme Inhib Med Chem
Fu R, Huang M, Liu T, Chen Y, Li X, Jiang W.   +5 more
europepmc   +1 more source

Citywide premarital genomic screening in a Middle Eastern population. [PDF]

Nat Med
Alblooshi K, Sharaf R, Shenbagam S, Sinha S, Jain R, Yaslam S, Alfalasi R, Abdulbaki A, Alyassi A, Alyafei H, Ramaswamy S, Jaber I, Sato M, Chekroun I, Rabea F, Khadija S, El Naofal M, Sheikh Hassani M, Taylor A, Farag M, Jamalalail B, Sarhan A, AlHajjaj S, Almadhoun F, Elsawy D, Alkhnbashi OS, Khansaheb H, Al Suwaidi H, Aldafrawy O, Albasti A, AlAwadhi M, Alsheikh-Ali A, Abou Tayoun A.   +32 more
europepmc   +1 more source

Simple virilizing form of 21-hydroxylase deficiency presenting with renal Insufficiency and polycythemia: a case report. [PDF]

Front Endocrinol (Lausanne)
Liang L, Su X, Zhang Y, Wang Z, Zhang G, Bai J, Li J.   +6 more
europepmc   +1 more source

Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-hydroxylase Deficiency in 457 Individuals.

J Clin Endocrinol Metab
Lao Q, Schulman A, Kulkarni S, Kollender S, Bick D, Moon A, Burkardt D, Merke DP.   +7 more
europepmc   +1 more source