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[Congenital hyperinsulinism as a part of Kabuki syndrome].

Autor: Benina AR; Endocrinology Research Centre., Melikyan MA; Endocrinology Research Centre.

Publikováno v: Problemy endokrinologii [Probl Endokrinol (Mosk)] 2022 Jul 20; Vol. 68 (5), pp. 91-96. Date of Electronic Publication: 2022 Jul 20.

[Congenital hypopituitarism with monosomy of chromosome 18].

Autor: Bolmasova AV; Endocrinology research center; Kulakov Federal Reseаrch Center for Obstetrics, Gynecology and Perinatology., Melikyan MA; Endocrinology research center., Gadzhieva ZS; Endocrinology research center., Puchkova AA; Kulakov Federal Reseаrch Center for Obstetrics, Gynecology and Perinatology., Degtyareva AV; Kulakov Federal Reseаrch Center for Obstetrics, Gynecology and Perinatology; The First Sechenov Moscow State Medical University., Peterkova VA; Endocrinology research center.

Publikováno v: Problemy endokrinologii [Probl Endokrinol (Mosk)] 2021 Jul 13; Vol. 67 (4), pp. 57-67. Date of Electronic Publication: 2021 Jul 13.

[Transient hyperinsulinism in neonates].

Autor: Bolmasova AV; Kulakov Federal Rеseаrch Center for Obstetrics, Gynecology and Perinatology; Endocrinology research Centre., Melikyan MA; Kulakov Federal Rеseаrch Center for Obstetrics, Gynecology and Perinatology., Krylova NA; Kulakov Federal Rеseаrch Center for Obstetrics, Gynecology and Perinatology., Ionov OV; Kulakov Federal Rеseаrch Center for Obstetrics, Gynecology and Perinatology., Ryumina II; Kulakov Federal Rеseаrch Center for Obstetrics, Gynecology and Perinatology., Bockeria EL; Kulakov Federal Rеseаrch Center for Obstetrics, Gynecology and Perinatology., Pekareva NA; Kulakov Federal Rеseаrch Center for Obstetrics, Gynecology and Perinatology., Degtyareva AV; Kulakov Federal Rеseаrch Center for Obstetrics, Gynecology and Perinatology.

Publikováno v: Problemy endokrinologii [Probl Endokrinol (Mosk)] 2020 Sep 26; Vol. 66 (4), pp. 61-67. Date of Electronic Publication: 2020 Sep 26.

Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants.

Autor: Kamenets EA; Research Centre for Medical Genetics Federal State Budgetary Institution Moscow Russia., Gusarova EA; Research Centre for Medical Genetics Federal State Budgetary Institution Moscow Russia., Milovanova NV; Research Centre for Medical Genetics Federal State Budgetary Institution Moscow Russia., Itkis YS; Research Centre for Medical Genetics Federal State Budgetary Institution Moscow Russia., Strokova TV; Federal Research Center for Nutrition and Biotechnology Federal State Budgetary Institution Moscow Russia.; Pirogov Russian National Research Medical University Federal State Budgetary Institution Moscow Russia., Melikyan MA; National Research Center for Endocrinology Federal State Budgetary Institution Moscow Russia., Garyaeva IV; Morozov municipal children's Hospital of Moscow City Federal State Budgetary Institution Moscow Russia., Rybkina IG; Morozov municipal children's Hospital of Moscow City Federal State Budgetary Institution Moscow Russia., Nikitina NV; Clinical-Diagnostic Center of Mother and Child Health Protection Federal State Budgetary Institution Yekaterinburg Russia., Zakharova EY; Research Centre for Medical Genetics Federal State Budgetary Institution Moscow Russia.

Publikováno v: JIMD reports [JIMD Rep] 2020 Feb 25; Vol. 53 (1), pp. 39-44. Date of Electronic Publication: 2020 Feb 25 (Print Publication: 2020).