Results 131 to 140 of about 1,174,652 (161)

Conundrum resolved by optical genome mapping in a 46,XY girl with difference in sex development and skeletal anomalies. [PDF]

JCEM Case Rep
Daghsni M, Guo F, Forsyth R, Reyes-Múgica M, Yatsenko SA, Witchel SF.   +5 more
europepmc   +1 more source

Post-translational modification of proteins in the human testis development pathway. [PDF]

Hum Reprod Update
Idris FP, Ferreira LGA, Houston B, Humphrey SJ, Sinclair AH, Ayers KL.   +5 more
europepmc   +1 more source

Uncovering Hidden Genetic Contributors to 46,XY Disorders of Sex Development Through Phenotype-Driven Rare Variant Assessment: A Pilot Study. [PDF]

Genes (Basel)
Tang Y, Chen Y, Zhang Q, Tang J, Ding Y, Li J, Yu T, Wang X.   +7 more
europepmc   +1 more source

German law on protection of children with DSD: first data on care after enactment. [PDF]

Endocr Connect
Neumann U, Binder G, Eckoldt F, Döhnert U, Dunstheimer D, Holterhus PM, Ludwikowski B, Wabitsch M, Woelfle J, Richter-Unruh A, Kamrath C.   +10 more
europepmc   +1 more source

PEG-rhGH successfully improved the height of a patient with rare 45,X[40]/46,XY[31] disorder of sex development: the first reported case. [PDF]

Transl Pediatr
Li S, Ge R, Liao N, Su Y, Lei C, Hu S, Wang Y, Ren Y.   +7 more
europepmc   +1 more source

Spectrum of Cytogenetic and Molecular Abnormalities in Disorders of Sex Development: A Retrospective Observational Study From Western India. [PDF]

Cureus
Acharya S, Chakrabarty B, Bansal N, Roy S, Kotwal N, Dagar V.   +5 more
europepmc   +1 more source

<i>NR5A1</i> gene variants: variable phenotypes, new variants, and genotype-phenotype correlations. [PDF]

Front Endocrinol (Lausanne)
Li L, Mao D, Li X, Song Y, Ren X, Gong C.   +5 more
europepmc   +1 more source