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Research Interests

Papers共 95 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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Nationwide, Couple-Based Genetic Carrier Screening
E. P. Kirk,M. B. Delatycki,A. D. Archibald,E. Tutty,J. Caruana,J. L. Halliday,S. Lewis,B. J. McClaren,A. J. Newson,L. Dive,S. Best,J. C. Long,J. Braithwaite,M. J. Downes,P. A. Scuffham,J. Massie,K. Barlow-Stewart, A. Kulkarni, A. Ruscigno,A. Kanga-Parabia, B. Rodrigues,B. H. Bennetts, C. Ebzery, C. Hunt, C. C. Cliffe,C. Lee,D. Azmanov,E. A. King,E. O. Madelli,F. Zhang,G. Ho, I Danos,J. Liebelt,J. Fletcher, J. Kennedy,J. Beilby,J. D. Emery,J. McGaughran, K. Scarf,K. Fisk, K. Harrison,K. Boggs, L. Giameos, L. Fitzgerald, L. Thomas,L. Burnett,L. Freeman, M. Harris, M. Berbic,M. R. Davis, M. Cifuentes Ochoa,M. Wallis,M. Wall, M. T. M. Chow, M. M. Ferrie,N. Pachter, N. Quayum, N. Lang, P. Kasi Pandy,R. Casella,R. J. N. Allcock,R. Ong,S. Edwards, S. Sundercombe, S. Jelenich,S. Righetti,S. Lunke, S. Kaur, S. Stock-Myer,S. Eggers,S. P. Walker,T. Theodorou, T. Catchpool, T. Clinch,T. Roscioli,T. Hardy, Y. Zhu,Z. Fehlberg,T. F. Boughtwood,N. G. Laing
NEW ENGLAND JOURNAL OF MEDICINEno. 20 (2024): 1877-1889
Cited0Views0WOSBibtex
0
0
Digenic Inheritance Involving a Muscle Specific Protein Kinase and the Giant Titin Protein Causes a Skeletal Muscle Myopathy
Ana Töpf,Dan Cox,Irina T. Zaharieva,Valeria Di Leo,Jaakko Sarparanta,Per Harald Jonson,Ian M. Sealy,Andrei Smolnikov,Richard J. White,Anna Vihola,Marco Savarese,Munise Merteroglu,Neha Wali,Kristen M. Laricchia,Cristina Venturini,Bas Vroling,Sarah L. Stenton,Beryl B. Cummings,Elizabeth Harris,Chiara Marini-Bettolo,Jordi Diaz-Manera, Matt Henderson,Rita Barresi,Jennifer Duff,Eleina M. England, Jane Patrick, Sundos Al-Husayni,Valerie Biancalana,Alan H. Beggs,Istvan Bodi,Shobhana Bommireddipalli,Carsten G. Bönnemann,Anita Cairns, Mei-Ting Chiew,Kristl G. Claeys,Sandra T. Cooper,Mark R. Davis,Sandra Donkervoort,Corrie E. Erasmus,Mahmoud R. Fassad,Casie A. Genetti,Carla Grosmann,Heinz Jungbluth,Erik-Jan Kamsteeg,Xavière Lornage,Wolfgang N. Löscher,Edoardo Malfatti,Adnan Manzur,Pilar Martí,Tiziana E. Mongini,Nuria Muelas,Atsuko Nishikawa,Anne O’Donnell-Luria,Narumi Ogonuki,Gina L. O’Grady,Emily O’Heir,Stéphanie Paquay,Rahul Phadke,Beth A. Pletcher,Norma B. Romero,Meyke Schouten, Snehal Shah,Izelle Smuts,Yves Sznajer,Giorgio Tasca,Robert W. Taylor,Allysa Tuite,Peter Van den Bergh,Grace VanNoy,Nicol C. Voermans,Julia V. Wanschitz,Elizabeth Wraige, Kimihiko Yoshimura,Emily C. Oates,Osamu Nakagawa,Ichizo Nishino,Jocelyn Laporte,Juan J. Vilchez,Daniel G. MacArthur,Anna Sarkozy,Heather J. Cordell,Bjarne Udd,Elisabeth M. Busch-Nentwich,Francesco Muntoni,Volker Straub
Nature Genetics（2024）
Cited7Views0WOSNATUREBibtex
7
0
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Author Statistics

#Papers: 95

#Citation: 3466

H-Index: 33

G-Index: 58

Sociability: 7

Diversity: 3

Activity: 25

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