絞り込み

16633

広告

「"Zarhrate M "[Author]」の検索結果

15件中 1件~17件表示    検索結果をPubMedで見る PubMedで見る

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.

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.

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.

Sort by
※並べ替えは表示に時間がかかります