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「"Zarhrate M "[Author]」の検索結果

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Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing.

PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.

Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes.

Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure.

Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis.

LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis.

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.

Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations.

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans.

[Early gene expression dysregulation and intellectual disability].

MED23 Mutation Links Intellectual Disability to Dysregulation of Immediate Early Gene Expression.

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation.

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood.

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene.

A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36.

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.

Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.

Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.

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