Clinical utility gene card for: Cornelia de Lange syndrome

被引：0

作者：

Feliciano J Ramos

Beatriz Puisac

Carolina Baquero-Montoya

Ma Concepción Gil-Rodríguez

Inés Bueno

Matthew A Deardorff

Raoul C Hennekam

Frank J Kaiser

Ian D Krantz

Antonio Musio

Angelo Selicorni

David R FitzPatrick

Juan Pié

机构：

[1] Clinical Genetics Unit,Departments of Pharmacology

[2] Service of Paediatrics,Physiology and Paediatrics Medical School

[3] University Hospital ‘Lozano Blesa’ Medical School,Department of Paediatrics

[4] University of Zaragoza,Department of Paediatrics

[5] CIBERER-GCV and IIS-Aragón,Department of Paediatrics

[6] Unit of Clinical Genetics and Functional Genomics,Division of Human Genetics

[7] University of Zaragoza,undefined

[8] CIBERER-GCV and IIS-Aragón,undefined

[9] Hospital Pablo Tobón Uribe,undefined

[10] The Children's Hospital of Philadelphia,undefined

[11] Perelman School of Medicine at the University of Pennsylvania,undefined

[12] Philadelphia,undefined

[13] PA,undefined

[14] USA,undefined

[15] Academic Medical Centre,undefined

[16] Sektion für Funktionelle Genetik am Institut für Humangenetik,undefined

[17] Universität zu Lübeck,undefined

[18] The Children's Hospital of Philadelphia,undefined

[19] Perelman School of Medicine at the University of Pennsylvania,undefined

[20] Philadelphia,undefined

[21] PA,undefined

[22] USA,undefined

[23] Istituto di Ricerca Genetica e Biomedica,undefined

[24] Consiglio Nazionale delle Ricerche,undefined

[25] Pediatric Genetic Clinic Unit,undefined

[26] MBBM Foundation University of Milano Bicocca,undefined

[27] San Gerardo Hospital,undefined

[28] MRC Human Genetics Unit - MRC IGMM,undefined

[29] University of Edinburgh,undefined

来源：

European Journal of Human Genetics | 2015年 / 23卷

关键词：

D O I：

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中图分类号：

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摘要：

引用

页码：1431 / 1431

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[1] Clinical utility gene card for: Cornelia de Lange syndrome
Ramos, Feliciano J.
Puisac, Beatriz
Baquero-Montoya, Carolina
Concepcion Gil-Rodriguez, Ma
Bueno, Ines
Deardorff, Matthew A.
Hennekam, Raoul C.
Kaiser, Frank J.
Krantz, Ian D.
Musio, Antonio
Selicorni, Angelo
FitzPatrick, David R.
Pie, Juan
EUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (10) : 1431 - 1431
[2] Cornelia de Lange syndrome
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[3] CORNELIA DE LANGE SYNDROME
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[4] Cornelia de Lange syndrome
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[5] The Cornelia de Lange Syndrome
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[7] CORNELIA DE LANGE SYNDROME
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[10] Novel gene and pathomechanism in Cornelia de Lange syndrome
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