Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences.
about
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesinApplication of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies.Multidisciplinary treatment of desmoid tumours in Gardner's syndrome due to a large interstitial deletion of chromosome 5q.Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder.
P2860
Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences.
description
2006 nî lūn-bûn
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2006年の論文
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2006年学术文章
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name
Molecular cytogenetic analysis ...... d its phenotypic consequences.
@en
Molecular cytogenetic analysis ...... d its phenotypic consequences.
@nl
type
label
Molecular cytogenetic analysis ...... d its phenotypic consequences.
@en
Molecular cytogenetic analysis ...... d its phenotypic consequences.
@nl
prefLabel
Molecular cytogenetic analysis ...... d its phenotypic consequences.
@en
Molecular cytogenetic analysis ...... d its phenotypic consequences.
@nl
P2093
P356
P1476
Molecular cytogenetic analysis ...... d its phenotypic consequences.
@en
P2093
Andreas Knoblauch
Andreas Tzschach
Corinna Menzel
Hans-Hilger Ropers
Harry Scherthan
Holger Toennies
Ines Krause-Plonka
Michael Radke
P304
P356
10.1002/AJMG.A.31105
P407
P577
2006-03-01T00:00:00Z