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「"Marangi G "[Author]」の検索結果

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Deregulated expression of the imprinted DLK1-DIO3 region in Glioblastoma Stem-like Cells: tumor suppressor role of lncRNA MEG3.

SOD1 p.D12Y variant is associated with ALS/distal myopathy spectrum.

International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.

Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers.

Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS.

Diagnosis and Management in Pitt-Hopkins Syndrome: First International Consensus Statement.

SYT1-associated neurodevelopmental disorder: a case series.

Is MED13L-related intellectual disability a recognizable syndrome?

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis.

A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.

Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.

Matrin 3 variants are frequent in Italian ALS patients.

Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge.

[Proposal of an Italian national protocol of health surveillance for former asbestos workers: an ongoing project].

New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis.

Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.

Lung cancer risk in past asbestos workers few decades after exposure cessation and prospects for screening.

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.

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