Results 121 to 130 of about 2,714 (169)

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

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

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

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

[Clinical and genetic characteristics of congenital adrenal hyperplasia: a retrospective analysis]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Wang CJ, Zhang YW, Liu DP, Jin J, Li ZH, Guo J, Zhang YD, Yang HH, Kang WQ.   +8 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

Novel cardiac abnormalities observed in CAH patients with tenascin-X haploinsufficiency. [PDF]

Front Endocrinol (Lausanne)
Sappl A, Sriramachandran AM, Lottspeich C, Vill K, Morak M, Welp AC, Dervishi O, Bidlingmaier M, Kunz S, Reisch N.   +9 more
europepmc   +1 more source

Imagining and Preventing the Future Existence of Bodies with Variations in Sex Characteristics. [PDF]

Arch Sex Behav
Meoded Danon L, Paperna T, Daum H, Zuckerman S.   +3 more
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

Reproductive Genetic Carrier Screening in Romania: A Couple-Based Study of Pathogenic Molecular Variants. [PDF]

Int J Mol Sci
Gug M, Gug C, Jurca AA, Popoiu TA, Patrascu R, Roman PA, Olteanu L, Andreescu N.   +7 more
europepmc   +1 more source