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51. PRECONCEPTION CARRIER SCREENING FOR MONOGENIC DISORDERS

Autor: E A Kalinina, I. Sadelov, J. Shubina, Andrey Donnikov, A. Ekimov, T. O. Kochetkova, A.Y. Goltsov, Dmitry Yu. Trofimov, I. S. Mukosey, M. Veyukova, Aydar Abubakirov, N. P. Makarova

Publikováno v: Reproductive BioMedicine Online. 39:e58

Introduction Up to 2% of newborn children have untreatable monogenic disorder. Preconception carrier screening is performed rarely. If a sperm donor is a carrier of mutation causing of frequent monogenic disorder probability of having a child with mo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f6356e733222d565ac3ecc5cd352fa53
https://doi.org/10.1016/j.rbmo.2019.04.104

Newly Described Mutations of the UNC45A Gene in Infants with Jaundice and Pruritus.

Autor: Degtyareva A; Department of Pediatrics and Clinical Genetics, National Medical, Research Center for Obstetrics, Gynecology, and Perinatology Named after Academician V.I. Kulakov, Moscow., Dokshukina A; Department of Pediatrics and Clinical Genetics, National Medical, Research Center for Obstetrics, Gynecology, and Perinatology Named after Academician V.I. Kulakov, Moscow., Filippova E; Department of Pediatrics and Clinical Genetics, National Medical, Research Center for Obstetrics, Gynecology, and Perinatology Named after Academician V.I. Kulakov, Moscow., Shubina J; Department of Pediatrics and Clinical Genetics, National Medical, Research Center for Obstetrics, Gynecology, and Perinatology Named after Academician V.I. Kulakov, Moscow., Tolmacheva E; Department of Pediatrics and Clinical Genetics, National Medical, Research Center for Obstetrics, Gynecology, and Perinatology Named after Academician V.I. Kulakov, Moscow., Sadelov I; Department of Pediatrics and Clinical Genetics, National Medical, Research Center for Obstetrics, Gynecology, and Perinatology Named after Academician V.I. Kulakov, Moscow., Albegova M; Department of Pediatrics and Clinical Genetics, National Medical, Research Center for Obstetrics, Gynecology, and Perinatology Named after Academician V.I. Kulakov, Moscow., Degtyarev D; Department of Pediatrics and Clinical Genetics, National Medical, Research Center for Obstetrics, Gynecology, and Perinatology Named after Academician V.I. Kulakov, Moscow.

Publikováno v: Current pediatric reviews [Curr Pediatr Rev] 2024 Feb 16. Date of Electronic Publication: 2024 Feb 16.