Suchergebnisse - "Nascimento, Andrés"

PubPharm (21)

1

Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM) : A Case Series and Biopsy Report

enthalten in: Journal of neuromuscular diseases | 2022

von Molera, C. | Sarishvili, T. | Nascimento, A. | +11

2

Tick-borne encephalitis. Description of the first imported case in Spain in a paediatric patient

enthalten in: Anales de pediatria | 2022

von Izurieta-Pacheco, A. | Nou-Fontanet, L. | Nascimento, A. | +2

3

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

enthalten in: European journal of human genetics : EJHG | 2021

von Töpf, A. | Pyle, A. | Griffin, H. | +59

4

Copper Toxicity Associated With an ATP7A-Related Complex Phenotype

enthalten in: Pediatric neurology | 2021

von Natera-de Benito, D. | Sola, A. | Sousa, P. | +13

5

CACNA1A Mutations Causing Early Onset Ataxia : Profiling Clinical, Dysmorphic and Structural-Functional Findings

enthalten in: International journal of molecular sciences | 2021

von Martínez-Monseny, A. | Edo, A. | Casas-Alba, D. | +11

6

Translational Diagnostics : An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases

enthalten in: The Journal of molecular diagnostics : JMD | 2021

von Pijuan, J. | Rodríguez-Sanz, M. | Natera-de Benito, D. | +12

7

Tick-borne encephalitis. Description of the first imported case in Spain in a paediatric patient

enthalten in: Anales de pediatria | 2020

von Izurieta-Pacheco, A. | Nou-Fontanet, L. | Nascimento, A. | +2

8

Clinical presentation and proteomic signature of patients with TANGO2 mutations

enthalten in: Journal of inherited metabolic disease | 2020

von Mingirulli, N. | Pyle, A. | Hathazi, D. | +40

9

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

enthalten in: Scientific reports | 2019

von Milev, M. | Stanga, D. | Schänzer, A. | +16

ErratumIn: Sci Rep. 2020 Nov 10;10(1):19770. - PMID 33173071

10

Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child

enthalten in: Neurology(R) neuroimmunology & neuroinflammation | 2019

von Carrera-García, L. | Natera-de Benito, D. | Lleixà, C. | +7