Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly

Pediatric Neurology

Volumn 30, Issue 3, 2004, Pages 195-200

  Seeman, Pavel ^a,b   Gebertová, Kateřina ^a   Paděrová, Kateřina ^a   Sperling, Karl ^c   Seemanová, Eva ^b  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c HUMBOLDT UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADOLESCENT; ADULT; AGE DISTRIBUTION; ARTICLE; BIRTH; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; CZECHOSLOVAKIA; DIAGNOSTIC PROCEDURE; DNA DETERMINATION; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; INCIDENCE; INFANCY; INFANT; LIFE EXPECTANCY; MAJOR CLINICAL STUDY; MALE; MICROCEPHALY; NIJMEGEN BREAKAGE SYNDROME; PEDIATRICS; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMOSOMAL INSTABILITY; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; COHORT STUDIES; CROSS-SECTIONAL STUDIES; CZECH REPUBLIC; FEMALE; FETAL GROWTH RETARDATION; GENE FREQUENCY; GENES, RECESSIVE; GENETIC SCREENING; GENETICS, POPULATION; HOMOZYGOTE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MALE; MENTAL RETARDATION; MICROCEPHALY; NUCLEAR PROTEINS;

EID: 1642352751     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2003.07.003     Document Type: Article

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