Molecular determination of X inactivation pattern correlates with phenotype in women with a structurally abnormal X chromosome.
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Voice disorders in children with classic galactosemia.Language production and working memory in classic galactosemia from a cognitive neuroscience perspective: future research directions.High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?From mind to mouth: event related potentials of sentence production in classic galactosemia.Classical galactosaemia revisited.Autism-lessons from the X chromosome.Long-term speech and language developmental issues among children with Duarte galactosemia.Correlates of language impairment in children with galactosaemia.Turner syndrome and the evolution of human sexual dimorphismInvestigating the role of X chromosome breakpoints in premature ovarian failure.Clinical correlation between premature ovarian failure and a chromosomal anomaly in a 22-year-old Caucasian woman: a case report.Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicismInstability in X chromosome inactivation patterns in AMD: a new risk factor?Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?GALK inhibitors for classic galactosemia.Appropriateness of newborn screening for classic galactosaemia: a systematic review.X-autosome and X-Y Translocations in Female Carriers: X-chromosome Inactivation Easily Detectable by 5-ethynyl-2-deoxyuridine (EdU)Pre-linguistic communication skill development in an infant with a diagnosis of galactosaemia.Prenatal diagnosis of galactose-1-phosphate uridyltransferase (GALT)-deficient galactosemia.Verbal dyspraxia and galactosemia.Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary.Two unrelated children with overlapping 6q25.3 deletions, motor speech disorders, and language delays.Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy.
P2860
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P2860
Molecular determination of X inactivation pattern correlates with phenotype in women with a structurally abnormal X chromosome.
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
2000年论文
@zh
2000年论文
@zh-cn
name
Molecular determination of X i ...... turally abnormal X chromosome.
@en
type
label
Molecular determination of X i ...... turally abnormal X chromosome.
@en
prefLabel
Molecular determination of X i ...... turally abnormal X chromosome.
@en
P2093
P1433
P1476
Molecular determination of X i ...... turally abnormal X chromosome.
@en
P2093
P304
P356
10.1097/00125817-200003000-00005
P407
P577
2000-03-01T00:00:00Z
P5875
P6179
1025305416