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论文共 14 篇作者统计合作学者相似作者

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Research of the Method for Assessing Facial Phenotypic Features from 2D Images in Medical Genetics

V. S. Kumov,A. Samorodov,I. Kanivets, K. Gorgisheli,V. G. Solonichenko

Proceedings of the 15th International Joint Conference on Biomedical Engineering Systems and Technologies (2022)

引用0浏览0EI引用

Delineation of the epileptic and neurodevelopmental phenotype associated with germline variants of the RORB gene

Z. Gokce-Samar,A. Vetro,J. de Bellescize,D. Sanlaville,T. Pisano,C. Korff,J. Fluss,C. Marini, B. Mercedes Alvarez,N. Chatron,S. Cuddapah,F. Lecoquierre,A-M Guerrot,A. Lebas,H. Testard,K. Helbig,A. Arzimanoglou,A. Labalme, A. Ruiz,A. Ngoh,M. Kurian,P. Joset,K. Steindl, N. Penaud,L. Monteiro,G. Ramantani,M. Krenn,L. Gerstl, S. Veker,D. Craiu,M. Pendziwiat, C. Haldeman-Englert,I. Kanivets, I. Romanova, D. Rajan, J. A. Mokry,M. Au,E. Cesaroni, P. Zacher,S. Neuser, M. Radtke, S. Tinschert, I. Mohnke, C. Kloeckner,I. Helbig,R. Abou Jamra, J. Courchet,S. Kury,R. Guerrini,G. Lesca

EPILEPSIA（2022）

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SNP-Based Chromosomal Microarray Analysis for Detecting DNA Copy Number Variations in Fetuses with a Thickened Nuchal Fold

J. K. Kievskaya,N. Shilova,I. Kanivets,E. Kudryavtseva,D. Pyankov,S. A. Korostelev

Sovremennye tehnologii v medicineno. 6 (2021): 72-72

引用1浏览0WOS引用

Efficiency Of High-Throughput Sequencing In The Diagnosis Of Genetic Causes Of Cerebral Palsy

V. Udalova,I. Kanivets,D. Pyankov, I. Komarkov, K. Gorgishely,S. Korostelev

EUROPEAN JOURNAL OF HUMAN GENETICS（2020）

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NGS-based testing in diagnostics of hereditary neuromuscular disorders: observations on a large cohort from a clinical bioinformatician's perspective

M. Ampleeva,E. Tolmacheva, I. Komar'kov, N. Shcherbakova,D. Khmelkova,E. Surkova,O. Ryzhkova,V. Kaimonov, I. Mironova,E. Pomerantseva,A. Isaev,E. Dadali,D. Pyankov, A. Antonets,I. Kanivets,S. Korostelev,F. Konovalov

EUROPEAN JOURNAL OF HUMAN GENETICS（2020）

引用2浏览0引用

Clinical and molecular characterization of a large MPAN cohort

P. Sparber,T. Krylova,S. Repina,N. Demina,G. Rudenskaya,I. Sharkova,A. Sharkov, V. Kadishev,I. Kanivets,S. Korostelev,E. Pomerantseva, M. Ivanova,S. Mikhailova, E. Zaharova,A. Filatova,M. Skoblov

EUROPEAN JOURNAL OF HUMAN GENETICS（2020）

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The intronic pathogenic variant in SCN2A associated with neurodevelopmental disorder and epileptic encephalopathy

A. A. Sharkov,P. Sparber,A. Filatova,M. Skoblov,I. Kanivets,D. Pyankov,S. Korostelev

EUROPEAN JOURNAL OF HUMAN GENETICS（2020）

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De novo apparently balanced complex chromosomal rearrangement involving three chromosomes with cryptic genomic imbalances

M. Minzhenkova,Z. Markova,I. Kanivets,N. Shilova

EUROPEAN JOURNAL OF HUMAN GENETICS（2019）

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The Study of the Informativeness of the Geometric Facial Parameters for the Preliminary Diagnosis of Hereditary Diseases

V. S. Kumov,A. Samorodov,I. Kanivets,K. Gorgisheli,V. G. Solonichenko

AIP conference proceedings (2019)

引用1浏览0引用

Familial case of Wolf-Hirschhorn syndrome with atypical deletion and asymptomatic carrier

Y. Kozlova,E. Dadali,Z. Markova,N. Shilova,D. Khmelkova,F. Konovalov,I. Kanivets

EUROPEAN JOURNAL OF HUMAN GENETICS（2019）

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