Results 101 to 110 of about 5,547 (175)

Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing. [PDF]

Orphanet J Rare Dis
Błaszczyk E, Więcek M, Jazela-Stanek A, Kudela G, Koszutski T, Kowalczyk K, Sikora J, Wiernik A, Żarczyńska M, Kempińska W, Bielska-Brodziak A, Gawlik-Starzyk A.   +11 more
europepmc   +1 more source

A Novel CFA3 Locus Encompassing <i>KCNIP4</i> Is Associated with Idiopathic Epilepsy in Siberian Huskies. [PDF]

Genes (Basel)
Smith TA, Potisk L.
europepmc   +1 more source

Balancing oncologic risk and fertility potential: a single-center study on Turner syndrome patients with Y chromosome material. [PDF]

Front Endocrinol (Lausanne)
Shuai X, Guo Z, Zhang D, Huang H, Chen K, Yang Y, Hu Q.   +6 more
europepmc   +1 more source

Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the <i>NR5A1</i> gene: a case report. [PDF]

Front Pediatr
Martinková J, Mihulová M, Balaščaková M, Trachta J, Křepelová A.   +4 more
europepmc   +1 more source

Serum insulin-like growth factor-1 concentrations are not reduced in Pomeranian dogs with Alopecia X: a case-control study. [PDF]

BMC Vet Res
Halajian Z, Khoshnegah J, Parham A.
europepmc   +1 more source

Ovotesticular disorder of sex development presenting in adolescence with amenorrhea and clitoromegaly-what is your diagnosis? [PDF]

J Turk Ger Gynecol Assoc
Setty A, Mangla M, Reddy KKK, Velladurai M.   +3 more
europepmc   +1 more source

Rare presentations of Swyer syndrome in a 13.5-year-old female; a case report and literature review. [PDF]

BMC Pediatr
Sadeghi A, Rezaei R, Razavi Z, Salehi AM, Dehghan A.   +4 more
europepmc   +1 more source

Effect of gonadectomy and hormone replacement on habenula-induced dopamine inhibition in female and male rats. [PDF]

J Neuroendocrinol
Waldron VJ, Suttawireesan M, Fatimah S, Merchenthaler IJ, Brown PL.   +4 more
europepmc   +1 more source

Genetic variants, clinical characteristics, and surgical treatments of 46 children with androgen insensitivity syndrome. [PDF]

Asian J Androl
Wen X, Fan LJ, Liu P, Shi JH, Zhang WP, Ni X, Gong CX.   +6 more
europepmc   +1 more source

Kidney transplantation outcomes in children with WT1-associated kidney disease: a single-center cohort study. [PDF]

Front Pediatr
Abasi R, Zhilang L, Mengjie J, Longshan L, Xiaoyun J, Yuxin P.   +5 more
europepmc   +1 more source