Nicole Philip - Department of Medical Genetics, Aix-Marseille University

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论文共 142 篇作者统计合作学者相似作者

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DISSEQ - Double-blind Exome and Large Gene Panel Sequencing Analyses in the First-Line Diagnosis of 330 Patients with Intellectual Disability (ID): ES Superiority for the Identification of CNV, Variants in New Disease-Causing Genes, and New Candidate Genes, As Well As the Advantage of Possible Prospective Reanalysis

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49

Mario Abaji,Svetlana Gorokhova,Nathalie Da Silva,Tiffany Busa,Maude Grelet,Chantal Missirian,Sabine Sigaudy,Nicole Philip,France Leturcq,Nicolas Levy,Martin Krahn,Marc Bartoli

Genes（2022）

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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

American journal of human geneticsno. 1 (2020): 26-40

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Using Common Genetic Variation to Examine Phenotypic Expression and Risk Prediction in 22q11.2 Deletion Syndrome

Nature Medicineno. 12 (2020): 1912-1918

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Extension of the Phenotypic Spectrum of GLE1‐related Disorders to a Mild Congenital Form Resembling Congenital Myopathy

Mathieu Cerino,Chloe Di Meglio, Francesca Albertini,Frederique Audic,Florence Riccardi,Christophe Boulay,Nicole Philip,Marc Bartoli,Nicolas Levy,Martin Krahn,Brigitte Chabrol

Molecular genetics & genomic medicine（2020）

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Genetic Contributors to Risk of Schizophrenia in the Presence of a 22q11.2 Deletion

Isabelle Cleynen,Worrawat Engchuan,Matthew S. Hestand,Tracy Heung,Aaron M. Holleman,H. Richard Johnston,Thomas Monfeuga,Donna M. McDonald-McGinn,Raquel E. Gur,Bernice E. Morrow,Ann Swillen,Jacob A. S. Vorstman,Carrie E. Bearden,Eva W. C. Chow,Marianne van den Bree,Beverly S. Emanuel,Joris R. Vermeesch,Stephen T. Warren,Michael J. Owen,Pankaj Chopra,David J. Cutler,Richard Duncan,Alex V. Kotlar,Jennifer G. Mulle,Anna J. Voss,Michael E. Zwick,Alexander Diacou,Aaron Golden,Tingwei Guo,Jhih-Rong Lin,Tao Wang,Zhengdong Zhang,Yingjie Zhao,Christian Marshall,Daniele Merico,Andrea Jin,Brenna Lilley,Harold I. Salmons,Oanh Tran,Peter Holmans,Antonio Pardinas,James T. R. Walters,Wolfram Demaerel,Erik Boot,Nancy J. Butcher,Gregory A. Costain,Chelsea Lowther,Rens Evers,Therese A. M. J. van Amelsvoort,Esther van Duin,Claudia Vingerhoets,Jeroen Breckpot,Koen Devriendt,Elfi Vergaelen,Annick Vogels,T. Blaine Crowley,Daniel E. McGinn,Edward M. Moss,Robert J. Sharkus,Marta Unolt,Elaine H. Zackai,Monica E. Calkins, Robert S. Gallagher,Ruben C. Gur,Sunny X. Tang,Rosemarie Fritsch,Claudia Ornstein,Gabriela M. Repetto,Elemi Breetvelt,Sasja N. Duijff,Ania Fiksinski,Hayley Moss,Maria Niarchou,Kieran C. Murphy,Sarah E. Prasad,Eileen M. Daly,Maria Gudbrandsen,Clodagh M. Murphy,Declan G. Murphy,Antonio Buzzanca,Fabio Di Fabio,Maria C. Digilio,Maria Pontillo,Bruno Marino,Stefano Vicari,Karlene Coleman,Joseph F. Cubells,Opal Y. Ousley,Miri Carmel,Doron Gothelf,Ehud Mekori-Domachevsky,Elena Michaelovsky,Ronnie Weinberger,Abraham Weizman,Leila Kushan,Maria Jalbrzikowski,Marco Armando,Stéphan Eliez,Corrado Sandini,Maude Schneider,Frédérique Sloan Béna,Kevin M. Antshel,Wanda Fremont,Wendy R. Kates,Raoul Belzeaux,Tiffany Busa,Nicole Philip,Linda E. Campbell,Kathryn L. McCabe,Stephen R. Hooper,Kelly Schoch,Vandana Shashi,Tony J. Simon,Flora Tassone,Celso Arango,David Fraguas,Sixto García-Miñaúr, Jaume Morey-Canyelles,Jordi Rosell, Damià H. Suñer,Jasna Raventos-Simic, Michael P. Epstein,Nigel M. Williams,Anne S. Bassett

Molecular psychiatry（2020）

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