Filtros de búsqueda

Lista de obras de Kristin K McDonald

CORRIGENDUM: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

artículo científico publicado en 2018

Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

artículo científico publicado en 2018

Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered

artículo científico publicado en 2012

Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia

artículo científico publicado en 2013

Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders

article

Experimental cerebral malaria develops independently of endothelial expression of intercellular adhesion molecule-1 (icam-1).

artículo científico publicado en 2013

Expression of a single ICAM-1 isoform on T cells is sufficient for development of experimental autoimmune encephalomyelitis

artículo científico publicado en 2014

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

artículo científico publicado en 2012

Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG.

artículo científico publicado en 2010

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.

artículo científico publicado en 2016

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

artículo científico publicado en 2017

Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy

artículo científico publicado en 2013

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda