换一批
换一批TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A RBM8A
作者：
Boussion Simon [1]
;
Escande Fabienne [2]
;
Jourdain Anne‐Sophie [3]
;
Smol Thomas [4]
;
Brunelle Perrine [5]
;
Duhamel Céline [6]
;
Alembik Yves [7]
;
Attié‐Bitach Tania [8]
;
Baujat Geneviève [9]
;
Bazin Anne [10]
;
Bonnière Maryse [11]
;
Carassou Philippe [12]
;
Carles Dominique [13]
;
Devisme Louise [14]
;
Goizet Cyril [15]
;
Goldenberg Alice [16]
;
Grotto Sarah [17]
;
Guichet Agnès [18]
;
Jouk Pierre‐Simon ;
Loeuillet Laurence ;
Mechler Charlotte ;
Michot Caroline ;
Pelluard Fanny ;
Putoux Audrey ;
Whalen Sandra ;
Ghoumid Jamal ;
Manouvrier‐Hanu Sylvie ;
Petit Florence
作者单位：
Anatomo‐Pathology DepartmentCHU BordeauxBordeaux,France
[1]
Clinical Genetics Department, Reference Center for Developmental AnomaliesCHU LilleLille,France
[2]
Medical Genetics Department, CHU Bordeaux, MRGM Laboratory, INSERMBordeaux UniversityBordeaux,France
[3]
EA7364‐RADEMELille UniversityLille,France
[4]
Clinical Genetics Department, Necker–Enfants Malades Hospital, AP‐HP, INSERM UMRIMAGINE
[5]
Foetopathology Department, Robert Debré HospitalAP‐HPParis,France
[6]
Genetics DepartmentHospices Civils de LyonLyon,France
[7]
Hematology DepartmentCHR Metz‐ThionvilleMetz,France
[8]
Genetics Department, Reference Center for Developmental AnomaliesCHU RouenRouen,France
[9]
Genetics DepartmentCHU AngersAngers,France
[10]
Clinical Genetics, Reference Center for Developmental Anomalies, Armand Trousseau HospitalAP
[11]
Histology, Embryology and Cytogenetics Department, Necker‐Enfants Malades HospitalAP‐HPParis,France
[12]
Genetics DepartmentCHU Grenoble‐AlpesGrenoble,France
[13]
INSERM U1053‐UMR BaRITOn,?Foetopathology Department, Pellegrin HospitalCHU BordeauxBordeaux,France
[14]
Antenatal Diagnosis DepartmentRené Dubois HospitalPontoise,France
[15]
Medical Genetics DepartmentCHU StrasbourgStrasbourg,France
[16]
Genetics Department, Robert Debré HospitalAP‐HPParis,France
[17]
Anatomo‐Cytopathology Department, Cochin HospitalAP‐HPParis,France
[18]
发布时间
2020-10-12
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Human mutation
Human mutation
1220-1225页
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