Results 141 to 150 of about 282,756 (243)

Paternal mosaicism in <i>ASXL3</i>-related bainbridge-ropers syndrome: implications for genetic counseling and prenatal diagnosis. [PDF]

Front Pediatr
Zhao B, Ding F, Hou F, Jin H.
europepmc   +1 more source

Urological management in a pediatric patient with mixed gonadal dysgenesis. [PDF]

Urol Case Rep
Chipa Beizaga WM, Orbegoso Celis LJ, Torres Marigorda BJ, Aguilar Ulloque MM, García Murga KN, Linares Vega V, Imán Izquierdo FJ, Aquino-Ortega R, Del Valle-Mendoza J, Silva-Caso WG.   +9 more
europepmc   +1 more source

Ring Y chromosome as an unusual cause of severe oligozoospermia. [PDF]

Endocrinol Diabetes Metab Case Rep
Chong S, Muir CA.
europepmc   +1 more source

Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers [PDF]

, 2014

core   +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

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

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

Repeated Pregnancies With Full Trisomy 21: A Case Report and Literature Review. [PDF]

Cureus
Hasegawa Y, Miura S, Nagata A, Yoshiura KI, Miura K.   +4 more
europepmc   +1 more source

Sex Categories. [PDF]

Arch Sex Behav
Cīrulis A.
europepmc   +1 more source