Suchergebnisse - "Cotrina-Vinagre, Francisco Javier"

PubPharm (21)

1

Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome : new homozygous VAMP1 splicing variants in 2 novel individuals

enthalten in: Journal of human genetics | 2024

von Cotrina-Vinagre, F. | Rodríguez-García, M. | Del Pozo-Filíu, L. | +8

2

Correction : A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2

enthalten in: Journal of human genetics | 2023

von Rodríguez-García, M. | Cotrina-Vinagre, F. | Olson, A. | +8

ErratumFor: J Hum Genet. 2023 Aug;68(8):543-550. - PMID 37072624

3

A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2

enthalten in: Journal of human genetics | 2023

von Rodríguez-García, M. | Cotrina-Vinagre, F. | Olson, A. | +8

ErratumIn: J Hum Genet. 2023 May 26;:. - PMID 37237142

4

First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL

enthalten in: Human mutation | 2022

von Rodríguez-García, M. | Cotrina-Vinagre, F. | Bellusci, M. | +5

5

First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL

enthalten in: Human mutation | 2022

von Rodríguez‐García, M. | Cotrina‐Vinagre, F. | Bellusci, M. | +5

6

MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase

enthalten in: Brain : a journal of neurology | 2021

von Lopes Abath Neto, O. | Medne, L. | Donkervoort, S. | +28

CommentIn: Brain. 2021 Oct 22;144(9):2560-2561. - PMID 34581775

7

New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient

enthalten in: Neuromuscular disorders : NMD | 2021

von Rodríguez-García, M. | Cotrina-Vinagre, F. | Bellusci, M. | +4

8

Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants

enthalten in: Molecular genetics and metabolism | 2021

von Cotrina-Vinagre, F. | Rodríguez-García, M. | Martín-Hernández, E. | +4

9

MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia

enthalten in: American journal of medical genetics. Part A | 2020

von Rodríguez-García, M. | Cotrina-Vinagre, F. | Gómez-Cano, M. | +3

10

A novel de novo mutation in the PURA gene associated with a new clinical finding : large brainstem

enthalten in: Journal of genetics | 2020

von Rodríguez-García, M. | Cotrina-Vinagre, F. | Arranz-Canales, E. | +7