المؤلفون: Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Inessa Dmitrievna Fedonyuk, Alexey Aleksandrovich Kholin, Elena Stepanovna Il’ina, Anna Yurievna Krasnenko, Ivan Fedorovich Stetsenko, Nikolay Alekseevich Plotnikov, Olesia Igorevna Klimchuk, Ekaterina Ivanovna Surkova, Valery Vladimirovich Ilinsky

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)

مصطلحات موضوعية: Epilepsy with intellectual disability limited to females, EIEE9, PCDH19, Protocadherin 19, Case report, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-020-01119-6; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/e0501934cf2640a1bfa785a5bdafcdc1

المؤلفون: Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Krasnenko, Kirill Yurievich Tsukanov, Olesya Igorevna Klimchuk, Olga Borisovna Kondakova, Anna Nikolaevna Larionova, Tatyana Timofeevna Batysheva, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov, Valery Vladimirovich Ilinsky

المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018)

مصطلحات موضوعية: Neuronal ceroid lipofuscinosis, NCL, MFSD8, NCL7, Variant late-infantile NCL, Rett-like phenotype, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-018-0669-7; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/0f53728ecd88490ca4c75bf9817ac9bf

المؤلفون: I. F. Stetsenko, Olesia Igorevna Klimchuk, P. A. Shatalov, E.A. Nikolaeva, Yaroslav V. Popov, Anna Krasnenko, E. I. Surkova, V V Ilinsky, Natalia Vladimirovna Baryshnikova, Alexander Rakitko, Olga Borisovna Kondakova, Elena Grigorievna Okuneva, Svetlana V. Mikhailova, Inessa D. Fedoniuk, Nikolay Plotnikov, Anastasiya Aleksandrovna Kozina

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)

مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Potassium Channels, lcsh:QH426-470, KCTD7, Population, 030105 genetics & heredity, Biology, Compound heterozygosity, Aminopeptidases, Russia, Frameshift mutation, 03 medical and health sciences, Gene Frequency, Neuronal Ceroid-Lipofuscinoses, Genetics, medicine, Humans, Missense mutation, Allele, Child, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, heterozygous carrier, Molecular Biology, Genetics (clinical), Exome sequencing, Tripeptidyl-Peptidase 1, Membrane Proteins, Membrane Transport Proteins, Original Articles, NCL, medicine.disease, lcsh:Genetics, 030104 developmental biology, Child, Preschool, Mutation, Female, Original Article, Neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis, Serine Proteases, Age of onset, exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9990be01aeab148ee1456aabcfab272
https://doi.org/10.1002/mgg3.1228

المؤلفون: O. I. Klimchuk, E. I. Surkova, V V Ilinsky, P. A. Shatalov, Anna Yu. Krasnenko, Tatiana A. Trofimova, Varvara A. Obuhova, Natalia Vladimirovna Baryshnikova, Elena Grigorievna Okuneva, Anastasiya Aleksandrovna Kozina, Kirill Yu. Tsukanov

المصدر: BMC Nephrology
BMC Nephrology, Vol 20, Iss 1, Pp 1-7 (2019)

مصطلحات موضوعية: 0301 basic medicine, Epithelial sodium channel, Male, medicine.medical_specialty, Heterozygote, SCNN1G, Adolescent, ENaC, Metabolic alkalosis, Blood Pressure, Case Report, 030204 cardiovascular system & hematology, lcsh:RC870-923, Plasma renin activity, Frameshift mutation, Russia, Amiloride, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Liddle Syndrome, Internal medicine, Renin, medicine, Epithelial Sodium Channel Blockers, Pseudoaldosteronism, Missense mutation, Humans, Epithelial Sodium Channels, Frameshift Mutation, Aldosterone, business.industry, Middle Aged, medicine.disease, lcsh:Diseases of the genitourinary system. Urology, Pedigree, 030104 developmental biology, Endocrinology, chemistry, Nephrology, Hypertension, Female, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d639fd7ff4d5c6da4a3801651f3bb9d
https://pubmed.ncbi.nlm.nih.gov/31655555

المؤلفون: Elena Grigorievna Okuneva, V V Ilinsky, A. Yu. Krasnenko, Natalia Vladimirovna Baryshnikova, K. Yu. Tsukanov, Anastasiya Aleksandrovna Kozina, O. I. Klimchuk, E. I. Surkova

المصدر: BMC Dermatology
BMC Dermatology, Vol 19, Iss 1, Pp 1-5 (2019)

مصطلحات موضوعية: Adult, Male, Connective Tissue Disorder, Elastolysis, Heterozygote, DNA Mutational Analysis, Case Report, Dermatology, Biology, Cutis Laxa, Frameshift mutation, 030207 dermatology & venereal diseases, 03 medical and health sciences, Exon, 0302 clinical medicine, Progeria, Exome Sequencing, lcsh:Dermatology, medicine, Humans, Child, Frameshift Mutation, Gene, Exome sequencing, Genetics, Exons, lcsh:RL1-803, medicine.disease, Kazakhstan, Elastin, 030220 oncology & carcinogenesis, biology.protein, Female, ELN, Cutis laxa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b6e9a650e325370d4539d91f02ab608
http://europepmc.org/articles/PMC6357400