Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion.
about
Exploring the developmental mechanisms underlying Wolf-Hirschhorn Syndrome: Evidence for defects in neural crest cell migrationSupernumerary small ring chromosome.A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation.A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat.A case of 3q29 microdeletion syndrome involving oral cleft inherited from a nonaffected mosaic parent: molecular analysis and ethical implications.LETM1-dependent mitochondrial Ca2+ flux modulates cellular bioenergetics and proliferation.Growth charts for Wolf-Hirschhorn syndrome (0-4 years of age).Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome.Wolf-Hirschhorn syndrome associated with an unusual abnormality of chromosome no. 4.Deletion of short arm of no. 4 (4p-)--a detailed case reportUveal coloboma and true Klinefelter syndrome.Genetic studies on hypospadias in malesDisorders caused by chromosome abnormalities.Chromatin remodeling in cardiovascular development and physiology.Congenital midline scalp and skull defect.Phenotypic variations in wolf-hirschhorn syndromeMolecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndromeDiverse mutational mechanisms cause pathogenic subtelomeric rearrangements.Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4.Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literatureAnalyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic HybridizationNeurological abnormalities in the 'cri-du-chat' syndromeInflammatory myofibroblastic bladder tumor in a patient with wolf-hirschhorn syndrome.Genetics of somatic mammalian cells: demonstration of a human esterase activator gene linked to the adeB gene.Perspectives on: SGP symposium on mitochondrial physiology and medicine: the pathophysiology of LETM1.MMSET is dynamically regulated during cell-cycle progression and promotes normal DNA replication.LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition.Huntington disease-linked restriction fragment length polymorphism localized within band p16.1 of chromosome 4 by in situ hybridizationCongenital malformations associated with a ring 4 chromosome.A large deletion of the long arm of chromosome No. 4 in a child with limb abnormalities.Diabetes Mellitus Secondary to Acute Pancreatitis in a Child with Wolf-Hirschhorn Syndrome.
P2860
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P2860
Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion.
description
1965 nî lūn-bûn
@nan
1965 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1965 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1965年の論文
@ja
1965年論文
@yue
1965年論文
@zh-hant
1965年論文
@zh-hk
1965年論文
@zh-mo
1965年論文
@zh-tw
1965年论文
@wuu
name
Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion.
@ast
Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion.
@en
Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion.
@nl
type
label
Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion.
@ast
Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion.
@en
Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion.
@nl
prefLabel
Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion.
@ast
Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion.
@en
Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion.
@nl
P2093
P1433
P1476
Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion.
@en
P2093
Firschein IL
Hirschhorn K
P304
P577
1965-01-01T00:00:00Z