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1.
The role of body fat in multiple sclerosis susceptibility and severity: A Mendelian randomisation study.
Mult Scler
; 28(11): 1673-1684, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35575213
2.
Mendelian Randomisation Finds No Causal Association between Urate and Parkinson's Disease Progression.
Mov Disord
; 36(9): 2182-2187, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34056740
3.
Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family.
Ann Hum Genet
; 79(5): 350-356, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-26102279
4.
Exploring the Role of Plasma Lipids and Statin Interventions on Multiple Sclerosis Risk and Severity: A Mendelian Randomization Study.
Neurology
; 101(17): e1729-e1740, 2023 10 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-37657941
5.
Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome.
Nat Commun
; 12(1): 7342, 2021 12 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-34930919
6.
Using Mendelian randomization to understand and develop treatments for neurodegenerative disease.
Brain Commun
; 2(1): fcaa031, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32954289
7.
A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.
Sci Rep
; 8(1): 2053, 2018 02 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29391579
8.
The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family.
J Neurol Sci
; 363: 240-4, 2016 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-27000257
9.
A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.
Arch Oral Biol
; 67: 28-33, 2016 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-27019138
10.
Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.
Saudi J Biol Sci
; 23(5): 571-6, 2016 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-27579005
11.
Case of Sjögren-Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis.
J Dermatol
; 42(7): 706-9, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-25855245
12.
Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family.
Eur J Med Genet
; 58(4): 216-21, 2015 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-25721873
13.
Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.
J Neurol Sci
; 353(1-2): 149-54, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25956234
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