Results 111 to 120 of about 167,060,252 (161)

Novel and Known <i>DHX37</i> Variants in 46,XY DSD: Expanding the Genotypic and Phenotypic Spectrum. [PDF]

Genes (Basel)
Xu X, Wu X, Chen S, Miao H, Fang K, Wu D, Zhang Y, Yang X.   +7 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

Long-term Outcomes of Gender Decisions in Differences of Sex Development (DSD) from an Indian Perspective: A Multicenter Study. [PDF]

J Indian Assoc Pediatr Surg
Sharma S, Bendre PS, Rahul SK, Shah A, Kurbet SB, Babu R, Banerjee A, Keshri R, Shah A.   +8 more
europepmc   +1 more source

Three-Year Experience of Cytogenetic and Molecular Genetic Evaluation in Patients With Disorders of Sex Development at a Tertiary Care Centre in Eastern India. [PDF]

Cureus
Sahoo S, Tripathy BB, Tripathy PR, Narayan RK, Kumar KP, Gaikwad MR.   +5 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

Clinical and genetic spectrum of cytochrome P450 oxidoreductase deficiency in Chinese patients. [PDF]

Endocr Connect
Wang T, Li C, Han C, Zhao Y, Qi G, Qi G, Zheng L.   +6 more
europepmc   +1 more source

7th International Workshop on SOX Transcription Factors. [PDF]

Biol Open
Uchida A.
europepmc   +1 more source

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

Novel compound heterozygous <i>POR</i> variants in a neonate with Antley-Bixler syndrome and 46,XY DSD: a case report and literature review. [PDF]

Front Endocrinol (Lausanne)
Zhang W, Zeng J, Li Y, Xie C, Sun Z, Lyu G, Yan T, Huang X.   +7 more
europepmc   +1 more source

The first case of cardiac urogenital syndrome presenting with ambiguous genitalia in Korea. [PDF]

Ann Pediatr Endocrinol Metab
Kim B, Yoo S, Cheon CK.
europepmc   +1 more source