Zobrazeno 1 - 4
of 4
pro vyhledávání: '"functional disomy xp"'
Autor:
Rjiba Khouloud, Wafa Slimani, Meriem Gaddas, Ikbel Hadj hassine, Afef Jelloul, Hela Ben Khelifa, Fethi El Amri, Monia Zaouali, Kenneth Mcelreavey, Ali Saad, Soumaya Mougou-Zerelli
Publikováno v:
JCRPE, Vol 15, Iss 1, Pp 25-34 (2023)
INTRODUCTION: Disorders of sexual development (DSD) are a heterogeneous group of genital defects affecting chromosomal, gonadal and anatomical sex. 46,XY DSD is a subset of DSD which covers a wide range of phenotypes in which 46,XY gonadal dysgenesis
Externí odkaz:
https://doaj.org/article/8375333db12443a28e38b3700a99987d
Akademický článek
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Akademický článek
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Autor:
Peterson JF; Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States., Basel DG; Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.; Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin, United States., Bick DP; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, United States., Chirempes B; The Advanced Genomics Laboratory, Children's Hospital of Wisconsin, Milwaukee, Wisconsin, United States., Lorier RB; The Advanced Genomics Laboratory, Children's Hospital of Wisconsin, Milwaukee, Wisconsin, United States., Zemlicka N; The Advanced Genomics Laboratory, Children's Hospital of Wisconsin, Milwaukee, Wisconsin, United States., Grignon JW Jr; Wisconsin Diagnostic Laboratories, Milwaukee, Wisconsin, United States., Weik L; Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States., Kappes U; Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.; The Advanced Genomics Laboratory, Children's Hospital of Wisconsin, Milwaukee, Wisconsin, United States.
Publikováno v:
Journal of pediatric genetics [J Pediatr Genet] 2018 Mar; Vol. 7 (1), pp. 23-28. Date of Electronic Publication: 2017 Jul 26.