Detalhe da pesquisa
1.
TUFM variants lead to white matter abnormalities mimicking multiple sclerosis.
Eur J Neurol
; 30(10): 3400-3403, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37433570
2.
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
Hum Genet
; 141(2): 257-272, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34907471
3.
The challenge of genetically unresolved haemophilia A patients: Interest of the combination of whole F8 gene sequencing and functional assays.
Haemophilia
; 26(6): 1056-1063, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33094873
4.
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med
; 21(4): 837-849, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30206421
5.
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med
; 21(8): 1897-1898, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30279470
6.
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
Genet Med
; 21(11): 2521-2531, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31092906
7.
Recessive mutations in VPS13D cause childhood onset movement disorders.
Ann Neurol
; 83(6): 1089-1095, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29518281
8.
A novel FGG missense variant associated with fibrinogen storage disease in a large family from Quebec.
Haemophilia
; 30(3): 858-861, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38561627
9.
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Brain
; 141(8): 2299-2311, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29985992
10.
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.
J Med Genet
; 55(5): 316-321, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29599419
11.
Switching to emicizumab: A prospective surveillance study in haemophilia A subjects with inhibitors.
Haemophilia
; 29(1): 348-351, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36315386
12.
Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping.
Haemophilia
; 29(3): 921-924, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36897533
13.
The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.
Hum Mol Genet
; 24(10): 2841-7, 2015 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25652405
14.
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.
Am J Hum Genet
; 94(2): 268-77, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24388663
15.
A case of familial transmission of the newly described DNMT3A-Overgrowth Syndrome.
Am J Med Genet A
; 173(7): 1887-1890, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28449304
16.
Evaluation of anti-factor VIII antibodies in haemophilia A subjects switching products following a provincial tender.
Haemophilia
; 28(1): e1-e4, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34766421
17.
Identification of cvSI-3 and evidence for the wide distribution and active evolution of the I84 family of protease inhibitors in mollusks.
Fish Shellfish Immunol
; 62: 332-340, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28159692
18.
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
PLoS Genet
; 10(9): e1004580, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25188300
19.
SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth.
Hum Mol Genet
; 23(1): 90-103, 2014 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23956174
20.
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.
Am J Hum Genet
; 93(1): 118-23, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23746551