Fragile-X syndrome and skewed X-chromosome inactivation within a family: a female member with complete inactivation of the functional X chromosome.
about
X-linked inheritance of Fanconi anemia complementation group BARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.Autism-lessons from the X chromosome.Curvilinear association of CGG repeats and age at menopause in women with FMR1 premutation expansions.Association of monoclonal expansion of Epstein-Barr virus-negative CD158a+ NK cells secreting large amounts of gamma interferon with hemophagocytic lymphohistiocytosis.Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.Single-tube methylation-specific duplex-PCR assay for rapid and accurate diagnosis of Fragile X Mental Retardation 1-related disorders.Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling.Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome.
P2860
Q28289439-3765DC9B-FB01-4BC9-BD71-383D2A2891F0Q34527346-4A90143B-C41D-41E1-9D08-2E58A257304FQ34872860-D6776922-D99E-4840-B3C0-5BA1E2A1BC96Q35541848-B3147088-DB5E-40F8-9FB9-8E2EB3976E29Q37051026-E4A9A3A2-4641-4D20-959B-EACE158F46E4Q37296765-17ECF2BA-BC46-4305-9A5D-3B9609A42272Q38920529-150E3223-F382-4564-916A-7BE8B69615D0Q50301340-702A77FC-FD34-427B-B811-EE87FB407D27Q51923151-C6B6EF48-7696-44A0-A49A-04556A5573BAQ55287271-2EF9099C-6F00-4721-966F-234E901BAE92
P2860
Fragile-X syndrome and skewed X-chromosome inactivation within a family: a female member with complete inactivation of the functional X chromosome.
description
2003 nî lūn-bûn
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2003年の論文
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2003年学术文章
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2003年学术文章
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2003年学术文章
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2003年学术文章
@zh-hans
2003年学术文章
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2003年学术文章
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2003年學術文章
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2003年學術文章
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name
Fragile-X syndrome and skewed ...... f the functional X chromosome.
@en
Fragile-X syndrome and skewed ...... f the functional X chromosome.
@nl
type
label
Fragile-X syndrome and skewed ...... f the functional X chromosome.
@en
Fragile-X syndrome and skewed ...... f the functional X chromosome.
@nl
prefLabel
Fragile-X syndrome and skewed ...... f the functional X chromosome.
@en
Fragile-X syndrome and skewed ...... f the functional X chromosome.
@nl
P2093
P2860
P356
P1476
Fragile-X syndrome and skewed ...... f the functional X chromosome.
@en
P2093
Busquets X
Heine-Suñer D
Torres-Juan L
P2860
P304
P356
10.1002/AJMG.A.20160
P407
P577
2003-10-01T00:00:00Z