about
Tuberous sclerosis diagnosed by incidental computed tomography findings of multifocal micronodular pneumocyte hyperplasia: a case reportAnalysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosisA circuitry and biochemical basis for tuberous sclerosis symptoms: from epilepsy to neurocognitive deficitsThe spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis.Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.Diagnosis of tuberous sclerosis complex.Molecular genetic basis of tuberous sclerosis complex: from bench to bedside.The neural crest lineage as a driver of disease heterogeneity in Tuberous Sclerosis Complex and Lymphangioleiomyomatosis.Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicismSeparating human DNA mixtures using denaturing high-performance liquid chromatography.Genetics and molecular biology of tuberous sclerosis complex.Multfocal micronodular pneumocyte hyperplasia in a Chinese man masquerading as miliary tuberculosis.Multimodal imaging in the prenatal diagnosis of tuberous sclerosis complex.Complete inactivation of the TSC2 gene leads to formation of hamartomas.Self-reported reproductive health in women with tuberous sclerosis complex.Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.
P2860
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P2860
description
1999 nî lūn-bûn
@nan
1999 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
name
Germ-line mosaicism in tuberous sclerosis: how common?
@ast
Germ-line mosaicism in tuberous sclerosis: how common?
@en
Germ-line mosaicism in tuberous sclerosis: how common?
@nl
type
label
Germ-line mosaicism in tuberous sclerosis: how common?
@ast
Germ-line mosaicism in tuberous sclerosis: how common?
@en
Germ-line mosaicism in tuberous sclerosis: how common?
@nl
prefLabel
Germ-line mosaicism in tuberous sclerosis: how common?
@ast
Germ-line mosaicism in tuberous sclerosis: how common?
@en
Germ-line mosaicism in tuberous sclerosis: how common?
@nl
P2093
P2860
P356
P1476
Germ-line mosaicism in tuberous sclerosis: how common?
@en
P2093
P2860
P304
P356
10.1086/302322
P407
P577
1999-04-01T00:00:00Z