Results 161 to 170 of about 4,073 (218)

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

Unveiling Salt-Wasting Congenital Adrenal Hyperplasia in an Infant: A Diagnostic Challenge. [PDF]

Cureus
Kummari S, Krishna Sravya M, R M.
europepmc   +1 more source

Genetic link between metabolic syndrome and coronary artery disease: Insights from genome-wide cross-trait analysis. [PDF]

Glob Med Genet
Yi P, Yin Q, Zhang H, Yang C, Zhu Y, Xia Z, Xu F, Mi J.   +7 more
europepmc   +1 more source

Case Report: Challenges of an extremely delayed diagnosis of classic congenital adrenal hyperplasia in a completely virilized 46,XX patient. [PDF]

Front Endocrinol (Lausanne)
Casiraghi A, Campi I, Federici S, Cernigliaro F, Menabò S, Persani L.   +5 more
europepmc   +1 more source

Clinical Application of Steroid Profiles and Their Interpretation in Adrenal Disorders. [PDF]

Diagnostics (Basel)
Ramasamy I.
europepmc   +1 more source

CYP21A2 gene mutation in South Indian children with congenital adrenal hyperplasia.

Indian pediatrics, 2016
Ramaswamy, Ganesh, Natarajan, Suresh, Lalitha, Janakiraman, Karnam, Ravikumar   +3 more
openaire   +1 more source

Causal Relationships Between Neuropathic Pain and Alzheimer's Disease: A Multi-Omics Mendelian Randomization Study with Exploratory Evidence of a Potential Protective Role of Diabetic Neuropathy. [PDF]

J Pain Res
Li X, Zhang C, Liu D, Shang H, Wang K, Lin X, Zheng J.   +6 more
europepmc   +1 more source

Novel Algorithm for Monogenic Noninvasive Prenatal Testing With Highly Similar Parental Pathogenic Haplotypes: A Representative Case of Congenital Adrenal Hyperplasia Pedigree. [PDF]

Hum Mutat
Zhou W, Liu F, Li S, Wu D, Yang J.
europepmc   +1 more source

Longitudinal 12-Month Follow-Up of a Male Infant with <i>CYP21A2</i> Compound Heterozygous Genotype in China: A Case Report. [PDF]

AJP Rep
Yin Y, Huang X, Shi Y, Huang C, Yu J, Liu Q.   +5 more
europepmc   +1 more source

High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing. [PDF]

Sci Rep
Claps A, Claps A, Kolomenski JE, Fernández F, Macchiaroli N, Ingravidi ML, Delea M, Fernández C, Castro T, Laiseca J, Kamenetzky L, Taboas M, Dain L.   +12 more
europepmc   +1 more source