The genetic basis of DOORS syndrome: An exome-sequencing study

The Lancet Neurology

Volumn 13, Issue 1, 2014, Pages 44-58

  Campeau, Philippe M ^a   Kasperaviciute, Dalia ^b   Lu, James T ^a   Burrage, Lindsay C ^a   Kim, Choel ^a   Hori, Mutsuki ^c   Powell, Berkley R ^d   Stewart, Fiona ^e   Félix, Têmis Maria ^f   van den Ende, Jenneke ^g   Wisniewska, Marzena ^h   Kayserili, Hülya ⁱ   Rump, Patrick ^j   Nampoothiri, Sheela ^k   Aftimos, Salim ^l   Mey, Antje ^m   Nair, Lal D V ⁿ   Begleiter, Michael L ^o   De Bie, Isabelle ^p   Meenakshi, Girish ^q   Murray, Mitzi L ^r   Repetto, Gabriela M ^s   Golabi, Mahin ^t   Blair, Edward ^u   Male, Alison ^v   Giuliano, Fabienne ^w   Kariminejad, Ariana ^x   Newman, William G ^y,z   Bhaskar, Sanjeev S ^y,z   Dickerson, Jonathan E ^y,z   Kerr, Bronwyn ^y,z   Banka, Siddharth ^y,z   Giltay, Jacques C ^aa   Wieczorek, Dagmar ^ab   Tostevin, Anna ^b   Wiszniewska, Joanna ^a   Cheung, Sau Wai ^a   Hennekam, Raoul C ^ac   Gibbs, Richard A ^a   Lee, Brendan H ^a,ad   Sisodiya, Sanjay M ^b,ae   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c TOYOHASHI MUNICIPAL HOSPITAL   (Japan)

^d CHILDREN S HOSPITAL CENTRAL CALIFORNIA   (United States)

^e BELFAST CITY HOSPITAL   (United Kingdom)

^f HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^g ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^h POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

ⁱ ISTANBUL UNIVERSITY   (Turkey)

^j UNIVERSITY OF GRONINGEN   (Netherlands)

^k AMRITA INSTITUTE OF MEDICAL SCIENCES   (India)

^l AUCKLAND CITY HOSPITAL   (New Zealand)

^m Braunschweig Hospital   (Germany)

ⁿ SAVEETHA MEDICAL COLLEGE AND HOSPITAL   (India)

^o UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

^p MONTREAL CHILDREN S HOSPITAL   (Canada)

^q NKP Salve Institute of Medical Sciences and Lata Mangeshkar Hospital   (India)

^r UNIVERSITY OF WASHINGTON MEDICAL CENTER   (United States)

^s UNIVERSIDAD DEL DESARROLLO   (Chile)

^t UNIVERSITY OF CALIFORNIA   (United States)

^u CHURCHILL HOSPITAL   (United Kingdom)

^v GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^w UNIVERSITY HOSPITAL OF NICE   (France)

^x Kariminejad and Najmabadi Pathology and Genetics Center   (Iran)

^y UNIVERSITY OF MANCHESTER   (United Kingdom)

^z ST MARY S HOSPITAL   (United Kingdom)

^aa UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^ab UNIVERSITY HOSPITAL ESSEN   (Germany)

^ac UNIVERSITY OF AMSTERDAM   (Netherlands)

^ad Hughes Medical Institute   (United States)

^ae EPILEPSY SOCIETY   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BONE DEVELOPMENT; CALVARIA; CARTILAGE CELL; CHILD; CLINICAL ARTICLE; DEAFNESS ONYCHODYSTROPHY OSTEODYSTROPHY MENTAL RETARDATION AND SEIZURES SYNDROME; EXOME; EXON; FAMILY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HUMAN; IMMUNOHISTOCHEMISTRY; INFANTILE SPASM; MALE; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SEIZURE; SYNDROME; WESTERN BLOTTING; YOUNG ADULT;

ADOLESCENT; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; EXOME; FEMALE; HAND DEFORMITIES, CONGENITAL; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; INTELLECTUAL DISABILITY; INTERNATIONALITY; MALE; NAILS, MALFORMED; PHENOTYPE; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84892372632     PISSN: 14744422     EISSN: 14744465     Source Type: Journal    
DOI: 10.1016/S1474-4422(13)70265-5     Document Type: Article

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