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研究兴趣

论文共 33 篇作者统计合作学者相似作者

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GestaltMatcher Database - a FAIR Database for Medical Imaging Data of Rare Disorders
Hellen Lesmann,Shahida Moosa, Jean Tori Pantel, Alexander Hustinx, Tom Kamphans, Wolfgang Meiswinkel, Jing-Mei Li, Hannah Klinkhammer, Behnam Javanmardi, Alexej Knaus, Stanislav Rosnev, Merle ten Hagen, Pilar Caro, Ibrahim Abdelrazek,Clara Velmans,Frederic Ebstein, Sebastien Kury, Ebtesam Abdalla, Matthias Hoeller, Kimberly Christine Coetzer, Miriam Elbracht, Felix Marbach,Cordula Knopp, Claudio Graziano, Annabelle Arlt,Artem Borovikov,Christian Netzer, Annette Uwineza, Rami Abou Jamra, Markus Noethen,Gholson Lyon, Peter Krawitz, Tzung-Chien Hsieh
EUROPEAN JOURNAL OF HUMAN GENETICS（2024）
引用0浏览0引用
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Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3
Aysylu Murtazina,Artem Borovikov, Anna Kuchina, Olga Ovsova,Maria Bulakh,Alena Chukhrova, Svetlana Braslavskaya,Oksana Ryzhkova,Nikolay Skryabin,Sergey Kutsev,Elena Dadali
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCESno. 1 (2024): 129
引用0浏览0WOS引用
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GestaltMatcher Database - A Global Reference for Facial Phenotypic Variability in Rare Human Diseases
Hellen Lesmann,Alexander Hustinx,Shahida Moosa,Hannah Klinkhammer,Elaine Marchi,Pilar Caro, Ibrahim M Abdelrazek,Jean Tori Pantel, Merle Ten Hagen,Meow-Keong Thong, Rifhan Azwani Binti Mazlan,Sok Kun Tae,Tom Kamphans,Wolfgang Meiswinkel,Jing-Mei Li,Behnam Javanmardi,Alexej Knaus,Annette Uwineza,Cordula Knopp,Tinatin Tkemaladze,Miriam Elbracht, Larissa Mattern,Rami Abou Jamra,Clara Velmans,Vincent Strehlow, Maureen Jacob,Angela Peron,Cristina Dias,Beatriz Carvalho Nunes, Thainá Vilella, Isabel Furquim Pinheiro,Chong Ae Kim,Maria Isabel Melaragno, Hannah Weiland, Sophia Kaptain,Karolina Chwiałkowska,Miroslaw Kwasniewski, Ramy Saad,Sarah Wiethoff,Himanshu Goel, Clara Tang, Anna Hau,Tahsin Stefan Barakat, Przemysław Panek,Amira Nabil, Julia Suh,Frederik Braun,Israel Gomy,Luisa Averdunk,Ekanem Ekure,Gaber Bergant,Borut Peterlin,Claudio Graziano,Nagwa Gaboon,Moisés Fiesco-Roa,Alessandro Mauro Spinelli,Nina-Maria Wilpert,Prasit Phowthongkum,Nergis Güzel,Tobias B Haack,Rana Bitar,Andreas Tzschach,Agusti Rodriguez-Palmero,Theresa Brunet,Sabine Rudnik-Schöneborn, Silvina Noemi Contreras-Capetillo, Ava Oberlack,Carole Samango-Sprouse,Teresa Sadeghin, Margaret Olaya,Konrad Platzer,Artem Borovikov,Franziska Schnabel,Lara Heuft, Vera Herrmann,Renske Oegema,Nour Elkhateeb,Sheetal Kumar,Katalin Komlosi, Khoushoua Mohamed,Silvia Kalantari,Fabio Sirchia,Antonio F Martinez-Monseny, Matthias Höller, Louiza Toutouna, Amal Mohamed,Amaia Lasa-Aranzasti, John A Sayer,Nadja Ehmke,Magdalena Danyel,Henrike Sczakiel,Sarina Schwartzmann,Felix Boschann,Max Zhao,Ronja Adam, Lara Einicke,Denise Horn,Kee Seang Chew,Choy Chen Kam,Miray Karakoyun,Ben Pode-Shakked,Aviva Eliyahu,Rachel Rock,Teresa Carrion,Odelia Chorin,Yuri A Zarate, Marcelo Martinez Conti,Mert Karakaya,Moon Ley Tung,Bharatendu Chandra,Arjan Bouman,Aime Lumaka,Naveed Wasif,Marwan Shinawi,Patrick R Blackburn,Tianyun Wang, Tim Niehues,Axel Schmidt, Regina Rita Roth,Dagmar Wieczorek, Ping Hu,Rebekah L Waikel,Suzanna E Ledgister Hanchard,Gehad Elmakkawy,Sylvia Safwat,Frédéric Ebstein,Elke Krüger,Sébastien Küry,Stéphane Bézieau,Annabelle Arlt,Eric Olinger,Felix Marbach, Dong Li,Lucie Dupuis,Roberto Mendoza-Londono,Sofia Douzgou Houge,Denisa Weis,Brian Hon-Yin Chung,Christopher C Y Mak,Hülya Kayserili,Nursel Elcioglu,Ayca Aykut, Peli Özlem Şimşek-Kiper,Nina Bögershausen,Bernd Wollnik,Heidi Beate Bentzen,Ingo Kurth,Christian Netzer,Aleksandra Jezela-Stanek,Koen Devriendt,Karen W Gripp,Martin Mücke,Alain Verloes,Christian P Schaaf,Christoffer Nellåker,Benjamin D Solomon,Markus M Nöthen,Ebtesam Abdalla,Gholson J Lyon,Peter M Krawitz,Tzung-Chien Hsieh
Research square (2024)
引用3浏览0WOS引用
3
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Biallelic Loss of Molecular Chaperone Molecule AIP Results in a Novel Severe Multisystem Disease Defined by Defective Proteostasis
Marta Korbonits, Xian Wang,Sayka Barry, Chung Lim,Oniz Suleyman, Stefano De-Tito, Nazia Begum,Maria Lillina Vignola,Charlotte Hall,Laura Perna, Paul Chapple, Sian Henson, Valle Morales, Katiuscia Bianchi, Vidar Orn Edvardsson, Kristjan Ari Ragnarsson, Viktoria Eir Kristinsdottir, Anne Debeer,Yoeri Sleyp,Rena Zinchenko,Glenn Anderson,Michael Duchen, Kritarth Singh,Chih-Yao Chung,Yu Yuan,Sandip Patel,Ezra Aksoy,Artem O Borovikov,Hans Tomas Bjornsson,Hilde Van Esch, Gabor Czibik,Sharon Tooze,Caroline Helen Brennan,Oliver Haworth
biorxiv（2024）
引用0浏览0引用
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Asymmetric Scapuloperoneal Phenotype of MATR3-related Distal Myopathy: Case Series
Aysylu Murtazina, Dmitrii Subbotin, Anna Kuchina, Olga Gilvanova,Daniil Degterev,Olga Shchagina, Tatiana Cherevatova, Maria Bulakh, Darya Sherstyukova, Oksana Ryzhkova, Olga Kurushina,Mikhail Skoblov,Artem Borovikov,Sergey Kutsev
Frontiers in genetics (2024): 1414928-1414928
引用0浏览0WOS引用
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The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania
Sofya A Ionova,Aysylu F Murtazina, Andrey A Marakhonov,Olga A Shchagina, Nina V Ryadninskaya, Inna S Tebieva,Vitaly V Kadyshev,Artem O Borovikov, Evgeny K Ginter,Sergey I Kutsev,Rena A Zinchenko
International journal of molecular sciencesno. 17 (2024)
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作者统计

#Papers: 32

#Citation: 97

H-Index: 4

G-Index: 9

Sociability: 6

Diversity: 0

Activity: 1

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