N.J.V. Cordeiro

发表

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

L. Lagae, A. Vanderver, K. Devriendt, 2015, American journal of medical genetics. Part A.

Neuromyelitis optica in patients with increased interferon alpha concentrations

Y. Crow, J. Wardlaw, A. Hayday, 2020, The Lancet Neurology.

Neuromyelitis optica in a child with Aicardi-GoutiÈres syndrome

Y. Crow, A. Vincent, S. Zuberi, 2015, Neurology.

Mutations in ADAR1, IFIH1, and RNASEH2B Presenting As Spastic Paraplegia

Y. Crow, J. Gleeson, D. Rodriguez, 2014, Neuropediatrics.

Fractures and bone health monitoring in boys with Duchenne muscular dystrophy managed within the Scottish Muscle Network

Cunyi Wang, S. C. Wong, I. Horrocks, 2019, Neuromuscular Disorders.

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

L. Lagae, A. Vanderver, J. Tolmie, 2014, Nature Genetics.

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

M. Hurles, L. Vissers, A. Hoischen, 2015, The Journal of clinical investigation.

Renal vascular disease in neurofibromatosis type 2: association or coincidence?

S. Huson, H. Stewart, K. Tullus, 2005, Developmental medicine and child neurology.

JAK 1/2 Blockade in MDA5 Gain-of-Function

Y. Crow, G. Rice, B. Neven, 2018, Journal of Clinical Immunology.

JAK 1/2 Blockade in MDA5 Gain-of-Function

Y. Crow, G. Rice, B. Neven, 2018, Journal of Clinical Immunology.

CBP012 Chronic demyelinating neuropathy with multiple vitamin deficiencies in a child with autism

M. O'Regan, N.J.V. Cordeiro, P. Mchenry, 2007 .