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Volumn 73, Issue 6, 2009, Pages 873-875

Speech impairment in Nijmegen breakage syndrome: A rare anomaly

Author keywords

Chromosomal instability disorder; Malignancies; Mental retardation; Mutations; Nijmegen breakage syndrome; Recurrent infections; Speech impairment

Indexed keywords

ADOLESCENT; APRAXIA; ARTICLE; CASE REPORT; CHROMOSOMAL INSTABILITY; COMORBIDITY; FACE MUSCLE; FEMALE; GROWTH RETARDATION; HUMAN; MENTAL DEFICIENCY; MICROCEPHALY; NIJMEGEN BREAKAGE SYNDROME; PRIORITY JOURNAL; PROGNOSIS; SHORT STATURE; SPEECH AND LANGUAGE; SPEECH DISORDER;

EID: 67349245470     PISSN: 01655876     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijporl.2009.01.003     Document Type: Article
Times cited : (4)

References (6)
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  • 2
    • 67349235801 scopus 로고    scopus 로고
    • Nijmejan breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability, E Seemanová1, K Sperli Institute of Human Genetics, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, martin.digweed@charite.de.
    • Nijmejan breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability, E Seemanová1, K Sperli Institute of Human Genetics, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, martin.digweed@charite.de.
  • 3
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    • Abnormalities in the T and NK lymphocyte phenotype in patients with Nijmegen breakage syndrome
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  • 5
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    • First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171 V) associated with genomic instability
    • Shimada H., Shimizu K., Mimaki S., Sakiyama T., Mori T., Shimasaki N., et al. First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171 V) associated with genomic instability. Hum. Genet. 115 October (5) (2004) 372-376
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  • 6
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    • Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly
    • Seeming P., Gebertova K., Paderova K., Sperling K., and Seemanova E. Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly. Pediatr. Neurol. Mar. 30 3 (2004) 195-200
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.