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Wyświetlanie 1-16 z 16
Tytuł:
The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene.
Autorzy:
Ionova SA; Research Centre for Medical Genetics, Moskvorechie str. 1, 115522 Moscow, Russia.
Murtazina AF; Research Centre for Medical Genetics, Moskvorechie str. 1, 115522 Moscow, Russia.
Tebieva IS; North Ossetian State Medical Academy of the Ministry of Health of the Russian Federation, Pushkinskaya str. 40, 362019 Vladikavkaz, Russia.; Republican Children's Clinical Hospital, Barbashova str. 33, 362003 Vladikavkaz, Russia.
Getoeva ZK; Pravoberezhnaya Central District Clinical Hospital, Kominterna str. 12, 363020 Beslan, Russia.
Dadali EL; Research Centre for Medical Genetics, Moskvorechie str. 1, 115522 Moscow, Russia.
Chausova PA; Research Centre for Medical Genetics, Moskvorechie str. 1, 115522 Moscow, Russia.
Shchagina OA; Research Centre for Medical Genetics, Moskvorechie str. 1, 115522 Moscow, Russia.
Marakhonov AV; Research Centre for Medical Genetics, Moskvorechie str. 1, 115522 Moscow, Russia.
Kutsev SI; Research Centre for Medical Genetics, Moskvorechie str. 1, 115522 Moscow, Russia.
Zinchenko RA; Research Centre for Medical Genetics, Moskvorechie str. 1, 115522 Moscow, Russia.; N.A. Semashko National Research Institute of Public Health, Vorontsovo Pole str. 12-1, 105064 Moscow, Russia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Oct 12; Vol. 23 (20). Date of Electronic Publication: 2022 Oct 12.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Dystrophies*/genetics
Male ; Humans ; High-Throughput Nucleotide Sequencing ; Nucleotides ; Mutation ; Collagen Type VI/genetics
Czasopismo naukowe
Tytuł:
Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.
Autorzy:
Markova TV; Research Centre for Medical Genetics, Moscow, Russia.
Kenis V; H.Turner National Medical Research Center for Сhildren's Orthopedics and Trauma Surgery, Pushkin, Russia.
Melchenko E; H.Turner National Medical Research Center for Сhildren's Orthopedics and Trauma Surgery, Pushkin, Russia.
Guseva D; Research Centre for Medical Genetics, Moscow, Russia.
Osipova D; Research Centre for Medical Genetics, Moscow, Russia.
Galeeva N; Research Centre for Medical Genetics, Moscow, Russia.
Nagornova T; Research Centre for Medical Genetics, Moscow, Russia.
Dadali EL; Research Centre for Medical Genetics, Moscow, Russia.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 May; Vol. 10 (5), pp. e1904. Date of Electronic Publication: 2022 Mar 21.
Typ publikacji:
Journal Article
MeSH Terms:
Cathepsin K*/genetics
Pycnodysostosis*/genetics
Pycnodysostosis*/pathology
Homozygote ; Humans ; Mutation ; Nucleotides
Czasopismo naukowe
Tytuł:
KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families.
Autorzy:
Rudenskaya GE; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics' (RCMG), Moscow, Russia.
Kadnikova VA; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics' (RCMG), Moscow, Russia. .
Ryzhkova OP; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics' (RCMG), Moscow, Russia.
Bessonova LA; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics' (RCMG), Moscow, Russia.
Dadali EL; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics' (RCMG), Moscow, Russia.
Guseva DS; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics' (RCMG), Moscow, Russia.
Markova TV; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics' (RCMG), Moscow, Russia.
Khmelkova DN; 'Genomed' Ltd, Moscow, Russia.
Polyakov AV; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics' (RCMG), Moscow, Russia.
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Źródło:
BMC neurology [BMC Neurol] 2020 Aug 03; Vol. 20 (1), pp. 290. Date of Electronic Publication: 2020 Aug 03.
Typ publikacji:
Journal Article
MeSH Terms:
Kinesins/*genetics
Paraplegia/*congenital
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Intellectual Disability/genetics ; Male ; Middle Aged ; Mutation ; Paraplegia/genetics ; Phenotype ; Russia ; Young Adult
SCR Disease Name:
Spastic Paraplegia 30, Autosomal Recessive
Czasopismo naukowe
Tytuł:
Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic.
Autorzy:
Zinchenko RA; Research Centre for Medical Genetics, 115522 Moscow, Russia.; N.A. Semashko National Research Institute of Public Health, 105064 Moscow, Russia.
Makaov AK; Municipal Budgetary Health Care Setting 'Khabez Central District Hospital', 369400 Khabez, Russia.
Marakhonov AV; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Galkina VA; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Kadyshev VV; Research Centre for Medical Genetics, 115522 Moscow, Russia.
El'chinova GI; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Dadali EL; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Mikhailova LK; N.N. Priorov Central Research Institute of Traumatology and Orthopedics, 117997 Moscow, Russia.
Petrova NV; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Petrina NE; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Vasilyeva TA; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Gundorova P; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Polyakov AV; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Alexandrova OY; Moscow Regional Research and Clinical Institute ('MONIKI'), 129110 Moscow, Russia.
Kutsev SI; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Ginter EK; Research Centre for Medical Genetics, 115522 Moscow, Russia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2020 Jan 03; Vol. 21 (1). Date of Electronic Publication: 2020 Jan 03.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Diseases, Inborn/*epidemiology
Female ; Genes, Recessive ; Genetic Diseases, Inborn/genetics ; Genetic Drift ; Genetic Testing ; Genetic Variation ; Genetics, Population ; Humans ; Inbreeding ; Male ; Russia/epidemiology
Czasopismo naukowe
Tytuł:
Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.
Autorzy:
Marakhonov AV; Research Centre for Medical Genetics, Moscow, Russia. .; Moscow Institute of Physics and Technology, Dolgoprudny, Russia. .; Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moskvorechie St., 1, Moscow, Russian Federation, 115478. .
Konovalov FA; Genomed Ltd, Moscow, Russia.
Makaov AK; Khabez central district hospital, Khabez, Russia.
Vasilyeva TA; Research Centre for Medical Genetics, Moscow, Russia.
Kadyshev VV; Research Centre for Medical Genetics, Moscow, Russia.
Galkina VA; Research Centre for Medical Genetics, Moscow, Russia.
Dadali EL; Research Centre for Medical Genetics, Moscow, Russia.
Kutsev SI; Research Centre for Medical Genetics, Moscow, Russia.; Pirogov Russian National Research Medical University, Moscow, Russia.; Moscow State University of Medicine and Dentistry, Moscow, Russia.
Zinchenko RA; Research Centre for Medical Genetics, Moscow, Russia.; Pirogov Russian National Research Medical University, Moscow, Russia.; Moscow State University of Medicine and Dentistry, Moscow, Russia.
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Źródło:
BMC medical genomics [BMC Med Genomics] 2018 Feb 13; Vol. 11 (Suppl 1), pp. 8. Date of Electronic Publication: 2018 Feb 13.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Abnormalities, Multiple/*pathology
Dwarfism/*pathology
Microcephaly/*complications
Abnormalities, Multiple/etiology ; Aged ; Dwarfism/etiology ; Facies ; Female ; Humans ; Male ; Microcephaly/etiology ; Microcephaly/pathology ; Middle Aged ; Mutation ; Nerve Tissue Proteins/genetics ; Pedigree ; Prognosis ; Syndrome
SCR Disease Name:
Seckel syndrome 1
Czasopismo naukowe
    Wyświetlanie 1-16 z 16

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