第一单位：
Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, 13353, Berlin, Germany.;Max Planck Institute for Molecular Genetics, FG Development and Disease, Berlin, Germany.;Institute of Chemistry and Biochemistry, Department of Biology, Chemistry and Pharmacy, Freie Universität Berlin, Berlin, Germany.
作者：
Johannes,Kopp [1]
;
Leonard A,Koch [2]
;
Hristiana,Lyubenova [3]
;
Oliver,Küchler [4]
;
Manuel,Holtgrewe [5]
;
Andranik,Ivanov [5]
;
Christele,Dubourg [6]
;
Erika,Launay [7]
;
Sebastian,Brachs [8]
;
Stefan,Mundlos [3]
;
Nadja,Ehmke [9]
;
Dominik,Seelow [4]
;
Mélanie,Fradin [10]
;
Uwe,Kornak [11]
;
Björn,Fischer-Zirnsak [12]
作者单位：
Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, 13353, Berlin, Germany.;Max Planck Institute for Molecular Genetics, FG Development and Disease, Berlin, Germany.;Institute of Chemistry and Biochemistry, Department of Biology, Chemistry and Pharmacy, Freie Universität Berlin, Berlin, Germany.
[1]
Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, 13353, Berlin, Germany.
[2]
Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, 13353, Berlin, Germany.;Max Planck Institute for Molecular Genetics, FG Development and Disease, Berlin, Germany.
[3]
Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, 13353, Berlin, Germany.;Exploratory Diagnostic Sciences, Berlin Institute of Health, Charité - Universitätsmedizin Berlin, Berlin, Germany.
[4]
Core Unit Bioinformatics (CUBI), Berlin Institute of Health, Charité - Universitätsmedizin Berlin, Berlin, Germany.
[5]
Service de Génétique Moléculaire et Génomique, CHU, Rennes, F-35033, France.;Univercity Rennes, CNRS, INSERM, IGDR, UMR 6290, ERL U1305, Rennes, F-35000, France.
[6]
Service de Cytogénétique et Biologie cellulaire, Hôpital Pontchaillou - CHU Rennes, 2 rue Henri Le Guilloux - Rennes cedex 9, France, Rennes, F-35033, France.
[7]
Department of Endocrinology and Metabolism, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117, Berlin, Germany.;German Centre for Cardiovascular Research, partner site Berlin, Berlin, Germany.
[8]
Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, 13353, Berlin, Germany.;Berlin Institute of Health, Charité - Universitätsmedizin Berlin, Berlin, Germany.
[9]
Service de Génétique Clinique, Centre Référence Déficiences Intellectuelles CRDI, Hôpital Sud - CHU Rennes, 16 boulevard de Bulgarie - BP 90347, Rennes cedex 2, Rennes, F-35203, France.;Service de Génétique, CH Saint Brieuc, St Brieuc, 22000, France.
[10]
Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, 13353, Berlin, Germany.;Max Planck Institute for Molecular Genetics, FG Development and Disease, Berlin, Germany.;Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
[11]
Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, 13353, Berlin, Germany. bjoern.fischer@charite.de.;Max Planck Institute for Molecular Genetics, FG Development and Disease, Berlin, Germany. bjoern.fischer@charite.de.
[12]
DOI
10.1007/s00439-024-02669-y
PMID
38592547
发布时间
2024-08-13
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