Results 151 to 160 of about 4,073 (218)

Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai. [PDF]

Hum Genomics
Hua R, Li S, Cui D, Lu Y, Li Y, Lin Y, Gao L, Lv S, Ma R, Mao A, Han X, Wang J, Wang Y.   +12 more
europepmc   +1 more source

Steroid 21-hydroxylase deficiency dysregulates essential molecular pathways of metabolism and energy provision. [PDF]

Biol Open
Bacila I, Oberski L, Li N, Storbeck KH, Cunliffe VT, Krone N.   +5 more
europepmc   +1 more source

MutaCYP: Classification of missense mutations in human cytochromes P450 [PDF]

, 2014

core   +1 more source

21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation. [PDF]

Arch Dis Child
Olthof A, Bouva MJ, Claahsen-van der Grinten HL, Westra D, Dekkers E, Heijboer AC, Hannema SE, Boelen A.   +7 more
europepmc   +1 more source

Long-read sequencing analysis of non-classical congenital adrenal hyperplasia prevalence and carrier frequency in Chinese polycystic ovarian syndrome patients. [PDF]

J Ovarian Res
Huang Y, Jiang H, Zhu X, Mao A, Cui D, Zhao Y, Wang Y, Long X, Qiao J.   +8 more
europepmc   +1 more source

Mutações no Gene CYP21A2 Analisadas Através da Reação da Polimerase em Cadeia

Revista Portal: Saúde e Sociedade, 2019
Gustavo Maffra Monteiro, Carlos Virgílio Rocha de Sousa Silva, Aluísio Antônio Brito de Mesquita, Susane Vasconcelos Zanotti, Isabella Lopes Monlleó, Reginaldo José Petroli   +5 more
openaire   +2 more sources

Dihydrotanshinone as a Natural Product-Based CYP17A1 Lyase Inhibitor for Hyperandrogenic Disorders. [PDF]

Biomolecules
Li K, Yakubu J, Jørgensen FS, Pandey AV.   +3 more
europepmc   +1 more source

Analysis of the Genome Aggregation Database (gnomAD) reveals a global burden of cystic fibrosis and the need for improved diagnosis and care. [PDF]

EBioMedicine
Bar L, Darrah RJ, Vaidyanathan S.
europepmc   +1 more source

Comprehensive characterization of 21-hydroxylase deficiency in a Chinese pediatric cohort: phenotype, steroid profiles and genetics. [PDF]

Front Endocrinol (Lausanne)
Chong H, Xue G, Pi Y, Zhang Y, Li Y, Xing Y, Chen B, Zhang H.   +7 more
europepmc   +1 more source

The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants. [PDF]

Int J Mol Sci
Gug M, Andreescu N, Caba L, Popoiu TA, Mozos I, Gug C.   +5 more
europepmc   +1 more source