Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family.
about
Renpenning syndrome maps to Xp11.Rational design of small-molecule stabilizers of spermine synthase dimer by virtual screening and free energy-based approachX-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3X-linked mental retardation.Familial X-linked mental retardation with an X chromosome abnormality.Computational analysis of missense mutations causing Snyder-Robinson syndromeX-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.X-linked mental retardation without physical abnormality (Renpenning's syndrome) in sibs in an institution.Fragile (X) X-linked mental retardation. II. Frequency and replication pattern of fragile (X)(q28) in heterozygotesFamilial X-linked mental retardation, verbal disability, and marker X chromosomesImpaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.Fragile X chromosome and X-linked mental retardation.N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.Study of X-linked mental retardation (XLMR): summary of 61 families in the Miami/Greenwood Study.The impact of spermine synthase (SMS) mutations on brain morphology.A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.X-linked mental retardation: in pursuit of a gene map.Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.Snyder-Robinson syndrome
P2860
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P2860
Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family.
description
1969 nî lūn-bûn
@nan
1969 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1969 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1969年の論文
@ja
1969年論文
@yue
1969年論文
@zh-hant
1969年論文
@zh-hk
1969年論文
@zh-mo
1969年論文
@zh-tw
1969年论文
@wuu
name
Recessive sex-linked mental re ...... rmalities. Report of a family.
@ast
Recessive sex-linked mental re ...... rmalities. Report of a family.
@en
Recessive sex-linked mental re ...... rmalities. Report of a family.
@nl
type
label
Recessive sex-linked mental re ...... rmalities. Report of a family.
@ast
Recessive sex-linked mental re ...... rmalities. Report of a family.
@en
Recessive sex-linked mental re ...... rmalities. Report of a family.
@nl
prefLabel
Recessive sex-linked mental re ...... rmalities. Report of a family.
@ast
Recessive sex-linked mental re ...... rmalities. Report of a family.
@en
Recessive sex-linked mental re ...... rmalities. Report of a family.
@nl
P2860
P1433
P1476
Recessive sex-linked mental re ...... rmalities. Report of a family.
@en
P2093
A Robinson
R D Snyder
P2860
P304
P356
10.1177/000992286900801114
P577
1969-11-01T00:00:00Z