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

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

نوع المنشور: Case Reports; English Abstract; Journal Article

بيانات الدورية: Publisher: Media Sfera Country of Publication: Russia (Federation) NLM ID: 0140673 Publication Model: Electronic Cited Medium: Internet ISSN: 2308-1430 (Electronic) Linking ISSN: 03759660 NLM ISO Abbreviation: Probl Endokrinol (Mosk) Subsets: MEDLINE

مواضيع طبية MeSH: Vestibular Diseases*/complications , Vestibular Diseases*/diagnosis , Vestibular Diseases*/genetics , Hematologic Diseases*/complications , Hematologic Diseases*/diagnosis , Hematologic Diseases*/genetics , Abnormalities, Multiple*/genetics , Abnormalities, Multiple*/diagnosis , Congenital Hyperinsulinism*/complications , Congenital Hyperinsulinism*/diagnosis , Congenital Hyperinsulinism*/genetics, Child ; Humans

SCR Disease Name: Kabuki syndrome

المؤلفون: Melikyan MA; Endocrinology Research Centre., Ivannikova TE; Endocrinology Research Centre., Milovanova NV; Research Centre for medical genetics., Kolodkina AA; Endocrinology Research Centre., Bezlepkina OB; Endocrinology Research Centre., Mokryshevа NG; Endocrinology Research Centre.

المصدر: Problemy endokrinologii [Probl Endokrinol (Mosk)] 2022 Jun 22; Vol. 68 (5), pp. 79-86. Date of Electronic Publication: 2022 Jun 22.

نوع المنشور: Case Reports; English Abstract; Journal Article

بيانات الدورية: Publisher: Media Sfera Country of Publication: Russia (Federation) NLM ID: 0140673 Publication Model: Electronic Cited Medium: Internet ISSN: 2308-1430 (Electronic) Linking ISSN: 03759660 NLM ISO Abbreviation: Probl Endokrinol (Mosk) Subsets: MEDLINE

مواضيع طبية MeSH: Donohue Syndrome*/complications , Donohue Syndrome*/drug therapy , Donohue Syndrome*/genetics , Insulin Resistance*/genetics, Humans ; Male ; Insulin-Like Growth Factor I/therapeutic use ; Receptor, Insulin/genetics ; Receptor, Insulin/metabolism ; Receptor, Insulin/therapeutic use ; Insulin/therapeutic use

المؤلفون: 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.

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

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Media Sfera Country of Publication: Russia (Federation) NLM ID: 0140673 Publication Model: Electronic Cited Medium: Internet ISSN: 2308-1430 (Electronic) Linking ISSN: 03759660 NLM ISO Abbreviation: Probl Endokrinol (Mosk) Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Pair 18*/genetics , Hypopituitarism*/genetics, Child ; Hormone Replacement Therapy ; Humans ; Infant, Newborn ; Monosomy/genetics ; Pituitary Gland

المؤلفون: Novokreshhennyx EE; Endocrinology research Centre., Gubaeva DN; Endocrinology research Centre., Melikyan MA; Endocrinology research Centre.

المصدر: Problemy endokrinologii [Probl Endokrinol (Mosk)] 2020 Oct 24; Vol. 66 (5), pp. 70-78. Date of Electronic Publication: 2020 Oct 24.

نوع المنشور: Journal Article; Observational Study

بيانات الدورية: Publisher: Media Sfera Country of Publication: Russia (Federation) NLM ID: 0140673 Publication Model: Electronic Cited Medium: Internet ISSN: 2308-1430 (Electronic) Linking ISSN: 03759660 NLM ISO Abbreviation: Probl Endokrinol (Mosk) Subsets: MEDLINE

مواضيع طبية MeSH: Congenital Hyperinsulinism*/drug therapy , Somatostatin*/therapeutic use, Child ; Diazoxide/adverse effects ; Humans ; Infant ; Injections, Subcutaneous ; Octreotide/therapeutic use

المؤلفون: 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.

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

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Media Sfera Country of Publication: Russia (Federation) NLM ID: 0140673 Publication Model: Electronic Cited Medium: Internet ISSN: 2308-1430 (Electronic) Linking ISSN: 03759660 NLM ISO Abbreviation: Probl Endokrinol (Mosk) Subsets: MEDLINE

مواضيع طبية MeSH: Hyperinsulinism*/diagnosis , Hypoglycemia*/diagnosis, Diazoxide/therapeutic use ; Glucose ; Humans ; Infant, Newborn ; Insulin

المؤلفون: Melikyan MA; Endocrinology Research Centre., Gubaeva DN; Endocrinology Research Certre., Kareva MA; Endocrinology research centre.

المصدر: Problemy endokrinologii [Probl Endokrinol (Mosk)] 2020 Sep 16; Vol. 66 (3), pp. 81-87. Date of Electronic Publication: 2020 Sep 16.

نوع المنشور: Journal Article; Observational Study

بيانات الدورية: Publisher: Media Sfera Country of Publication: Russia (Federation) NLM ID: 0140673 Publication Model: Electronic Cited Medium: Internet ISSN: 2308-1430 (Electronic) Linking ISSN: 03759660 NLM ISO Abbreviation: Probl Endokrinol (Mosk) Subsets: MEDLINE

مواضيع طبية MeSH: Congenital Hyperinsulinism*/drug therapy , Somatostatin*/therapeutic use, Child ; Humans ; Infusions, Subcutaneous ; Octreotide/adverse effects ; Quality of Life

المؤلفون: 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.

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

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

المؤلفون: Gubaeva DN; Endocrinology Research Certre., Melikyan MA; Endocrinology Research Certre., Ryzhkova DV; Almazov National Medical Research Center., Poyda MD; Almazov National Medical Research Center., Bairov VG; Almazov National Medical Research Center., Sukhotskaya AA; Almazov National Medical Research Center., Sokolov YY; Russian Medical Academy of Postgraduate Education., Efremenkov AM; Russian Medical Academy of Postgraduate Education., Mitrofanova LB; Almazov National Medical Research Center., Christesen H; Odense University Hospital., Nikitina IL; Almazov National Medical Research Center.

المصدر: Problemy endokrinologii [Probl Endokrinol (Mosk)] 2019 Nov 23; Vol. 65 (5), pp. 319-329. Date of Electronic Publication: 2019 Nov 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Media Sfera Country of Publication: Russia (Federation) NLM ID: 0140673 Publication Model: Electronic Cited Medium: Internet ISSN: 2308-1430 (Electronic) Linking ISSN: 03759660 NLM ISO Abbreviation: Probl Endokrinol (Mosk) Subsets: MEDLINE

مواضيع طبية MeSH: Congenital Hyperinsulinism*/diagnostic imaging, Dihydroxyphenylalanine ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Positron Emission Tomography Computed Tomography ; Russia