Results 151 to 160 of about 5,009 (204)

A Novel POR G88S Mutation Causes Severe PORD and Establishes a Critical Pharmacogenomic Risk Profile.

J Clin Endocrinol Metab
Rojas Velazquez MN, Lopez Dacal J, Jørgensen FS, Sanguineti N, Sharma K, Marino R, Pérez Garrido N, Vaiani E, Ramírez P, Scaglia P, Izquierdo A, Sansó G, Ropelato MG, Bergadá I, Rey RA, Grinspon RP, Pandey AV.   +16 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

A kardiovaszkuláris rizikó és a C4B gén hiányos haplotípusok közötti kapcsolat mechanizmusának vizsgálata [PDF]

, 2014
Bánlaki Zsófia
core   +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

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

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients [PDF]

, 2015

core   +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

Relación entre 17-hidroxiprogesterona sérica con el tamiz neonatal en el diagnostico de hiperplasia suprarrenal congénita en pacientes pediátricos del hospital materno infantil ISSEMYM del 01 de enero de 2010 al 31 de diciembre de 2012 [PDF]

, 2014
Ayala Estrada, Arturo, Loza Santiaguillo, Paloma del Rocio   +1 more
core