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A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.

artículo científico publicado en 2014

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy

artículo científico publicado en 2016

An Induced Pluripotent Stem Cell Patient Specific Model of Complement Factor H (Y402H) Polymorphism Displays Characteristic Features of Age-Related Macular Degeneration and Indicates a Beneficial Role for UV Light Exposure. ⬇️

artículo científico publicado en 2017

Astute Clinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 of ICOS Causes a Combined Immunodeficiency Associated with an Enteritis and Hepatitis

artículo científico publicado en 2015

Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa ⬇️

artículo científico publicado en 2018

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

artículo científico publicado en 2015

HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development

artículo científico publicado en 2016

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.

artículo científico publicado en 2016

Identification of the pathogenic pathways in osteoarthritic hip cartilage: commonality and discord between hip and knee OA

artículo científico publicado en 2012

Neurexins 1-3 Each Have a Distinct Pattern of Expression in the Early Developing Human Cerebral Cortex.

artículo científico publicado en 2016

Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux

artículo científico publicado en 2018

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