Results 281 to 290 of about 57,073 (302)

The Genetics of 21-Hydroxylase Deficiency

The Endocrinologist, 1994
Javier E. Aisenberg, Phyllis W. Speiser
openaire   +1 more source

The ratio of second- and fourth-digit lengths and congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Early Human Development, 2002
Aysenur Okten, Mukaddes Kalyoncu
exaly  

21-Hydroxylase Deficiency

2008
openaire   +1 more source

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency

Genetics in Medicine, 2014
Rani H Singh, Fran Rohr, Patricia L Splett   +2 more
exaly  

New, recurrent, and prevalent mutations: Clinical and molecular characterization of 26 Chinese patients with 17alpha-hydroxylase/17,20-lyase deficiency

Journal of Steroid Biochemistry and Molecular Biology, 2015
Manna Zhang, Huijie Zhang, Yang Jiao
exaly  

Combined 17α-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17α-hydroxylase cytochrome P-450

Molecular and Cellular Endocrinology, 1988
Michael R Waterman, Toshihiko Yanase, M Kagimoto   +2 more
exaly  

Phenotypic variation in a Chinese family with 46,XY and 46,XX 17α-hydroxylase deficiency

Gynecological Endocrinology, 2012
Yong Mong Bee, Richard J Auchus
exaly  

CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations

Journal of Clinical Endocrinology and Metabolism, 2003
Nike M M L Stikkelbroeck, Lies H Hoefsloot, Ilse J De Wijs   +2 more
exaly  

Genotyping of a Chinese family with 46,XX and 46,XY 17-hydroxylase deficiency

Gynecological Endocrinology, 2009
Qinjie Tian, Shangzhi Huang, Adolf E Schindler   +2 more
exaly  

Genetic and Hormonal Characterization of Cryptic 21-Hydroxylase Deficiency*

Journal of Clinical Endocrinology and Metabolism, 1981
Lenore S Levine, F Lorenzen, Songya Pang   +2 more
exaly