Results 111 to 120 of about 3,493 (177)

A Case Report of Tissue Mosaicism in 45,X0/46,XY: Diagnostic Complexity in a Newborn with Ambiguous Genitalia. [PDF]

Reports (MDPI)
Krzyścin M, Brodowska A, Pietrzyk D, Zając K, Sowińska-Przepiera E.   +4 more
europepmc   +1 more source

Turner Syndrome With 45,X/46,XX Mosaicism and a Derivative X Chromosome (Xqter → Xq13?::Xp11.4 → Xqter): A Case Report. [PDF]

Clin Case Rep
Jiang W, Ji T, Wu Q, Xu Z, Xia X.
europepmc   +1 more source

Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a Novel AR Mutation. [PDF]

Clin Case Rep
Francesca AM, Serena S, Chiara DB, Angela RM, Basilia P, Marco C, Mattia G, Maddalena RR, Emanuela E, Silvana B, Salvatore C.   +10 more
europepmc   +1 more source

Clinical Exome Sequencing as a Key Diagnostic Tool: A Rare de novo <i>TRIO</i> Variant in Dizygotic Twins. [PDF]

Mol Syndromol
Bouchahta H, Sahli M, Amllal N, Ouhenach M, Sbabou L, Sefiani A.   +5 more
europepmc   +1 more source

Integrating imaging and genomics in prenatal Treacher Collins syndrome: evidence for practice and policy. [PDF]

Orphanet J Rare Dis
Li C, Huang W, Gan Z, Ling Y, Qiu L, Xiao Y, Xiong F, Yang F.   +7 more
europepmc   +1 more source

A Case of Disorder of Sex Development in Red Deer (<italic>Cervus elaphus</italic>).

Sex Dev
Zacharski M, Pieczka K, Dzimira S.
europepmc   +1 more source