Clinical exome sequencing: Results from 2819 samples reflecting 1000 families

European Journal of Human Genetics

Volumn 25, Issue 2, 2017, Pages 176-182

  Trujillano, Daniel ^a   Bertoli Avella, Aida M ^a   Kumar Kandaswamy, Krishna ^a   Weiss, Maximilian Er ^a   Köster, Julia ^a   Marais, Anett ^a   Paknia, Omid ^a   Schröder, Rolf ^a   Garcia Aznar, Jose Maria ^a   Werber, Martin ^a   Brandau, Oliver ^a   Calvo Del Castillo, Maria ^a   Baldi, Caterina ^a   Wessel, Karen ^a   Kishore, Shivendra ^a   Nahavandi, Nahid ^a   Eyaid, Wafaa ^b,c   Al Rifai, Muhammad Talal ^b,c   Al Rumayyan, Ahmed ^b,c   Al Twaijri, Waleed ^b,c   Alothaim, Ali ^b,c   Alhashem, Amal ^d   Al Sannaa, Nouriya ^e   Al Balwi, Mohammed ^b,c   Alfadhel, Majid ^b,c   Rolfs, Arndt ^a,f   Abou Jamra, Rami ^a,g   more..

^a CENTOGENE AG   (Germany)

^b KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^c KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^d The General Directorate of Armed Forces Health Services   (Saudi Arabia)

^e DHAHRAN HEALTH CENTER   (Saudi Arabia)

^f UNIVERSITY OF ROSTOCK   (Germany)

^g UNIVERSITY OF LEIPZIG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL NAV1.3; VOLTAGE GATED SODIUM CHANNEL BETA 1 SUBUNIT; FLAVOPROTEIN; KCTD3 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE; POTASSIUM CHANNEL; PPOX PROTEIN, HUMAN; PRESO PROTEIN, HUMAN; PROTOPORPHYRINOGEN OXIDASE; PTPN23 PROTEIN, HUMAN; SCN1B PROTEIN, HUMAN; SCN3A PROTEIN, HUMAN; SIGNAL PEPTIDE; SODIUM CHANNEL;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BRAIN ATROPHY; BRAIN DISEASE; CHILD; CONSANGUINITY; DIAGNOSTIC VALUE; FEMALE; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; PATHOGENICITY; PATIENT REFERRAL; PHENOTYPE; PORPHYRIA VARIEGATA; PRESCHOOL CHILD; PRIORITY JOURNAL; SEVERE MYOCLONIC EPILEPSY IN INFANCY; WHOLE EXOME SEQUENCING; X CHROMOSOME LINKED DISORDER; DNA SEQUENCE; EVALUATION STUDY; EXOME; GENETIC SCREENING; GENETICS; GENOTYPING TECHNIQUE; MIDDLE AGED; NEWBORN; NUCLEAR FAMILY; PROCEDURES; STANDARDS;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; EXOME; FEMALE; FLAVOPROTEINS; GENETIC TESTING; GENOTYPING TECHNIQUES; HUMANS; INFANT; INFANT, NEWBORN; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; NAV1.3 VOLTAGE-GATED SODIUM CHANNEL; NUCLEAR FAMILY; PHENOTYPE; POTASSIUM CHANNELS; PROTEIN TYROSINE PHOSPHATASES, NON-RECEPTOR; PROTOPORPHYRINOGEN OXIDASE; SEQUENCE ANALYSIS, DNA; SODIUM CHANNELS; VOLTAGE-GATED SODIUM CHANNEL BETA-1 SUBUNIT;

EID: 84995550657     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2016.146     Document Type: Article

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