Cathy Aj Bosch - Lab Diagnost Genome Anal, Leiden Univ

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论文共 16 篇作者统计合作学者相似作者

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Adult‐onset Beta‐thalassaemia Intermedia Caused by a 5‐mb Somatic Clonal Segmental Deletion in Haemopoietic Stem Cells Involving the Β‐globin Locus

Joanne Traeger-Synodinos,Cathy A. J. Bosch,Christina Vrettou, Lena Maragoudaki, Janos Apostolidis,Emmanuel Kanavakis,Christos Kattamis,Sandra G. J. Arkesteijn,Mariette J. V. Hoffer,Claudia A. L. Ruivenkamp,Cornelis L. Harteveld

British journal of haematology（2019）

引用2浏览0WOS引用

Copy Number Variants in Short Children Born Small for Gestational Age

Jan M. Wit,Hermine A. van Duyvenvoorde,Jan B. van Klinken,Janina Caliebe,Cathy A. J. Bosch,Julian C. Lui,Antoinet C. J. Gijsbers,Egbert Bakker,Martijn H. Breuning,Wilma Oostdijk,Monique Losekoot,Jeffrey Baron,Gerhard Binder,Michael B. Ranke,Claudia A. L. Ruivenkamp

HORMONE RESEARCH IN PAEDIATRICS（2014）

引用33浏览0WOS引用

IGF1, IGF1R and SHOX Mutation Analysis in Short Children Born Small for Gestational Age and Short Children with Normal Birth Size (idiopathic Short Stature)

Janina Caliebe,Sander Broekman,Merel Boogaard,Cathy A. J. Bosch,Claudia A. L. Ruivenkamp,Wilma Oostdijk,S. G. Kant,Gerhard Binder,Michael B. Ranke,Jan M. Wit,Monique Losekoot

Hormone Research in Paediatrics（2012）

引用58浏览0WOS引用

Loss-Of-Function Mutations in Igsf1 Cause an X-Linked Syndrome of Central Hypothyroidism and Testicular Enlargement

Nature Genetics（2012）

引用176浏览0WOSNATURE引用

176

Three New Cases with a Mosaicism Involving a Normal Cell Line and a Cryptic Unbalanced Autosomal Reciprocal Translocation

Antoinet C. J. Gijsbers,Johannes G. Dauwerse,Cathy A. J. Bosch,Elles M. J. Boon,Wilco Van Den Ende,Sarina G. Kant,Kerstin M. B. Hansson,Martijn H. Breuning,Egbert Bakker,Claudia A. L. Ruivenkamp

European Journal of Medical Genetics（2011）

引用19浏览0WOS引用

Analyse Par Hybridation Génomique Comparative De Tumeurs Desmoïdes Sporadiques Et Associées À Une Polypose Adénomateuse Familiale

P. Cervera,E. Robanus-Maandag,C. Bosch,S. Amini Nik,J. Knijnenburg, K. Szhhai,R. Poon,D. Eccles,P. Radice,B. Alman,S. Tejpar,P. Devilee,R. Fodde,Y. Parc,J.-F. Fléjou

Annales de Pathologie（2011）

引用0浏览0引用

A 797 kb de novo deletion of 18q21.31 in a patient with speech delay, mental retardation, sleeping problems, facial dysmorphism, and feet anomalies

Mireille M.L. van Diepen,Antoinet C.J. Gijsbers,Cathy A.J. Bosch,Anne Marie Oudesluys-Murphy,Claudia A.L. Ruivenkamp,Emilia K. Bijlsma

European Journal of Medical Genetics（2011）

引用5浏览0EIWOS引用

Contents Vol. 128, 2010

Jeff W. Martin,Maisa Yoshimoto,Olga Ludkovski,Paul S. Thorner,Maria Zieleńska,Jeremy A. Squire, Paulo Nuin, Brian J. Henson,S.M. Gollin,A.C.J. Gijsbers,Arie van Haeringen,Cathy A.J. Bosch, Karl Hansson,M. Verschuren,E. Bakker,M.H. Breuning,Claudia Ruivenkamp,Thomas Liehr,N Kosyakova,Anja Weise,Monika Ziegler, Gisela Raabe‐Meyer,M. Ceccarelli,V. Sarri,Enza Polizzi,G. Andreozzi,P. G. Cionini, Polina Dementyeva,V.A. Trifonov,Anastasia I. Kulemzina,A.S. Graphodatsky,Maria Strazzullo,Cristina Rossetti,Giovanna Fusco,Ciro Campanile,Domenico Vecchio,Giuseppe Campanile,A. Perucatti,G.P. Di Meo, M. D. Filipović,Andre A. Eggen, L. Ferrara,Maurizio D’Esposito,Mariela Nieves,M. Mühlmann,Marta Dolores Mudry,Satz Mengensatzproduktion,Druck Reinhardt Druck Basel

Cytogenetic and Genome Researchno. 4 (2010): I-IV

引用0浏览0引用

A New Conditional Apc-mutant Mouse Model for Colorectal Cancer

Els C. Robanus-Maandag,Pim J. Koelink,Cor Breukel,Daniela C. F. Salvatori,Shantie C. Jagmohan-Changur,Cathy A. J. Bosch,Hein W. Verspaget,Peter Devilee,Riccardo Fodde,Ron Smits

Carcinogenesis（2010）

引用83浏览0WOS引用

Chapter 4 . 2 A subtle familial translocation t ( 3 ; 21 ) ( p 26 . 3 ; q 22 . 3 ) : apparently healthy boy with a 3 p deletion and 21 q duplication

Antoinet CJ Gijsbers, Arie v Haeringen,Cathy AJ Bosch,Kerstin Hansson, Maaike, Verschuren,Egbert Bakker

semanticscholar（2010）

引用0浏览0引用

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