Results 151 to 160 of about 21,834 (238)

Molecular Diagnosis of 46,XY Disorders of Sex Development: An Efficient Initial Molecular Analysis Using a Custom-Designed Targeted Gene Panel in a Single-Center Study. [PDF]

Sex Dev
Poyrazoglu S, Aghayev A, Toksoy G, Karaman B, Aslanger AD, Avci S, Altunoglu U, Karaman V, Yildiz M, Abali ZY, Bas F, Basaran S, Darendeliler F, Uyguner ZO.   +13 more
europepmc   +1 more source

The intersection of disorders of sex development and cardiovascular diseases. [PDF]

Biol Sex Differ
Hashmi S, Aherrahrou R.
europepmc   +1 more source

Near-Comparable Frequency of rob(21;21) and rob(14;21) Translocations in Trisomy 21: A Retrospective Cytogenetic Analysis of 9,313 Cases From an Indian Referral Cohort. [PDF]

Cureus
Kunda S, Kasaragadda M, Patibandla S, Singh S, Parvez S, Rao Golla T.   +5 more
europepmc   +1 more source

46,XY DSD with Partial Gonadal Dysgenesis and Growth Failure in a Patient with 3q27.1 Microdeletion: Candidate Gene Curation After Exhaustive Literature Review. [PDF]

Int J Mol Sci
Correa Brito L, Suco S, Casali B, Villegas F, Scaglia P, Izquierdo A, Lopez Dacal J, Podestá M, Medin M, Grinspon RP, Ropelato MG, Rey RA.   +11 more
europepmc   +1 more source

Two Cases of <i>MYRF</i>-Related Differences of Sex Development: A Wide Phenotypic Spectrum. [PDF]

JCEM Case Rep
Dayno A, Chatty P, Muneer S, Montano C, Kilberg M, Vogiatzi M.   +5 more
europepmc   +1 more source

StAR Protein Deficiency in Clinical Practice: A Case Series From Saudi Arabia. [PDF]

Case Rep Endocrinol
Alabduljabbar A, Farooq D, Abid S, Aljazaeri S, Alhuthil R, Alsagheir A.   +5 more
europepmc   +1 more source

<i>SOX9</i> gene anomalies and campomelic / acampomelic campomelic dysplasia: case report and literature review. [PDF]

Front Genet
Towers CV, Meadows JT, Petruzzi PT, Grabeel KL.   +3 more
europepmc   +1 more source

Twins With Pathogenic <i>RNF113A</i> Variant Presenting With Testicular Regression Syndrome. [PDF]

JCEM Case Rep
Resnick O, Beauchamp G.
europepmc   +1 more source

Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report. [PDF]

Am J Case Rep
Almulhem B, AlJishi FM, Al-Qahtani M.
europepmc   +1 more source

Case Report: Laparoscopic vaginoplasty in a case of partial androgen insensitivity syndrome and a literature review of 16 cases in China. [PDF]

Front Surg
Qin H, Liu H, Liu Q, Li B.
europepmc   +1 more source