Cri du chat syndrome: changing phenotype in older patients.
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Cri du Chat syndromeDeletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndromeAngelman syndrome: a review of the clinical and genetic aspectsClinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlationCytogenomic Aberrations in Congenital Cardiovascular Malformations5p deletions: Current knowledge and future directions.Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype.A systematic review of the oral and craniofacial manifestations of cri du chat syndrome.Multiplex ligation-dependent probe amplification (MLPA): a reliable alternative for fetal chromosome analysis?A clue in the diagnosis of Cri-du-chat syndrome: Pontine hypoplasia.Implications of mapping the human telomerase gene (hTERT) as the most distal gene on chromosome 5p.A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with Cri du Chat syndrome.Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome: Recommendations for clinical management.Contrasting age related changes in autism spectrum disorder phenomenology in Cornelia de Lange, Fragile X, and Cri du Chat syndromes: Results from a 2.5 year follow-up.A novel 5p15.33-14.1 deletion and 4q34.24-35.2 duplication in a patient with mental retardation, dysmorphic features and severe speech delay.Prenatal diagnosis of 5p deletion syndrome in a female fetus leading to identification of the same diagnosis in her mother.A description of adaptive and maladaptive behaviour in children and adolescents with Cri-du-chat syndrome.
P2860
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P2860
Cri du chat syndrome: changing phenotype in older patients.
description
2000 nî lūn-bûn
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年论文
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2000年论文
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name
Cri du chat syndrome: changing phenotype in older patients.
@en
type
label
Cri du chat syndrome: changing phenotype in older patients.
@en
prefLabel
Cri du chat syndrome: changing phenotype in older patients.
@en
P2093
P2860
P1476
Cri du chat syndrome: changing phenotype in older patients.
@en
P2093
Van Buggenhout GJ
P2860
P304
P356
10.1002/(SICI)1096-8628(20000131)90:3<203::AID-AJMG5>3.0.CO;2-A
P577
2000-01-01T00:00:00Z