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论文共 33 篇作者统计合作学者相似作者

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Molecular and Phenotypic Characterization of the RORB-Related Disorder

Zeynep Gokce-Samar,Annalisa Vetro,Julitta De Bellescize,Tiziana Pisano,Laloe Monteiro, Noemie Penaud,Christian M. Korff,Joel Fluss,Carla Marini,Elisabetta Cesaroni,Blanca Mercedes Alvarez,Damien Sanlaville,Nicolas Chatron, Alexis A. Arzimanoglou,Audrey Labalme, Vishnu A. Cuddapah,Sarah M. Ruggiero,Francois Lecoquierre,Gael Nicolas, Guerrot Anne Marie,Axel Lebas,Herve O. Testard,Katherine L. Helbig,Anna Ruiz,Adeline Ngoh,Manju A. Kurian,Kimberley Reid,Robert Spaull,Pascal Joset,Georgia Ramantani,Katharina Steindl,Martin Krenn,Lucia Gerstl,Silvia Vieker,Dana Craiu,Manuela Pendziwiat,Chad Haldeman-Englert,Ilya Kanivets, Irina Romanova,Deepa S. Rajan,Jill A. Rosenfeld,Margaret Au,Katheryn Grand,John M. Graham Jr,Arnaud Isapof,Nathalie Villeneuve,Thomas Smol,Roseline Caumes,Pia Zacher,Sonja Neuser, Sigrid Tinschert,Konrad Platzer,Tobias Bartolomaeus, Ines Mohnke,Maximilian Radtke,Rami Abou Jamra,Ingo Helbig, Floortje E. Jansen, Klaas Koop,Gabrielle Rudolf,Sebastien Kury,Julien Courchet,Renzo Guerrini,Gaetan Lesca

NEUROLOGY（2024）

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The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study

Artem Borovikov,Nailya Galeeva,Andrey Marakhonov,Aysylu Murtazina,Varvara Kadnikova, Kseniya Davydenko,Anna Orlova,Peter Sparber,Tatiana Markova,Maria Orlova,Darya Osipova,Tatyana Nagornova,Natalia Semenova,Olga Levchenko,Alexandra Filatova,Margarita Sharova, Peter Vasiluev,Ilya Kanivets,Denis Pyankov,Artem Sharkov, Vasilisa Udalova,Vladimir Kenis, Natalia Nikitina,Maria Sumina,Konstantin Zherdev, Aleksandr Petel'guzov,Oleg Chelpachenko, Pavel Zubkov, Ivan Dan, Andrey Snetkov, Alexandra Akinshina, Yury Buklemishev,Oxana Ryzhkova,Vyacheslav Tabakov,Ekaterina Zakharova,Sergey Korostelev,Rena Zinchenko,Mikhail Skoblov,Alexander Polyakov,Elena Dadali,Sergey Kutsev,Olga Shchagina

HUMAN MUTATION (2024)

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Cases Report: Mosaic Structural Variants of the EXT1 Gene in Previously Genetically Unconfirmed Multiple Osteochondromas

Artem Borovikov,Andrey Marakhonov,Aysylu Murtazina, Kseniya Davydenko,Alexandra Filatova,Nailya Galeeva,Varvara Kadnikova, Natalya Ogorodova, Daria Gorodilova,Ilya Kanivets,Denis Pyankov,Konstantin Zherdev, Aleksandr Petel'guzov, Pavel Zubkov,Alexander Polyakov,Olga Shchagina,Mikhail Skoblov

Frontiers in genetics (2024): 1435493-1435493

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Expanding the allelic and locus heterogeneity of Multiple osteochondromas

Artem Borovikov,Nailya Galeeva,Tatiana Markova,Elena Zinina,Tatiana Nagornova,Ekaterina Zakharova,Aysylu Murta-Zina,Ilya Kanivets,Sergey Korostelev,Maria Orlova,Aleksander Polyakov,Elena Dadali,Olga Schagina

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 389-390

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A recurrent variant in the SOD1 gene - is a frequent pathogenic or a rare benign variant

Olga Shatokhina,Ilya Kanivets,Denis Pyankov,Fedor Konovalov,Oksana Ryzhkova

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 507-508

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Mutational spectrum and clinical features of GNE myopathy in Russia

Aysylu Murtazina,Sergey Nikitin,Galina Rudenskaya,Inna Sharkova,Olga Shchagina,Alena Chukhrova,Oksana Ryzhkova,Olga Shatokhina,Anna Orlova,Artem Borovikov,Ilya Kanivets,Sergey Korostelev,Elena Dadali

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 511-511

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Four Novel Disease-Causing Variants in the NOTCH3 Gene in Russian Patients with CADASIL

Fatima Bostanova,Polina Tsygankova,Ilya Nagornov,Elena Dadali,Lyudmila Bessonova,Aleksey Kulesh,Viktor Drobakha, Irina Danchenko,Ilya Kanivets,Ekaterina Zakharova

Genesno. 9 (2023): 1715-1715

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Clinical Manifestations of Various Molecular Cytogenetic Variants of Eight Cases of "8p Inverted Duplication/Deletion Syndrome"

Darya A Yurchenko,Marina E Minzhenkova,Elena L Dadali,Zhanna G Markova,Galina E Rudenskaya,Galina N Matyushchenko,Ilya V Kanivets,Nadezda V Shilova

BIOMEDICINES（2022）

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Clinical Manifestations of Various Molecular Cytogenetic Variants of Eight Cases of “8p Inverted Duplication/Deletion Syndrome”

Darya A. Yurchenko, Marina E. Minzhenkova,Elena L. Dadali,Zhanna G. Markova,Galina E. Rudenskaya,Galina N. Matyushchenko,Ilya V. Kanivets,Nadezda V. Shilova

Biomedicinesno. 3 (2022): 567

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Case Report: Compound Heterozygous Variants of the MAN1B1 Gene in a Russian Patient with Rafiq Syndrome

Irina Zh Zhalsanova, Ekatherina G. Ravzhaeva, Anna E. Postrigan,Gulnara N. Seitova,Daria Zhigalina, Vasilisa Yu Udalova, Maryana M. Danina,Ilya Kanivets,Nikolay A. Skryabin

International journal of molecular sciencesno. 18 (2022): 10606-10606

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