Detalhe da pesquisa
1.
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.
Brain
; 2023 Dec 11.
Artigo
Inglês
| MEDLINE | ID: mdl-38079474
2.
Muscular phenotype description of abnormal THOC2 splicing.
Neuromuscul Disord
; 33(12): 978-982, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37945483
3.
Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation.
Acta Myol
; 42(4): 106-112, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-38406381
4.
Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 Autoantibodies.
Neurol Neuroimmunol Neuroinflamm
; 10(1)2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36522170
5.
Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report.
Genes (Basel)
; 13(12)2022 11 29.
Artigo
Inglês
| MEDLINE | ID: mdl-36553512
6.
Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe.
Eur J Endocrinol
; 186(5): K17-K24, 2022 Mar 23.
Artigo
Inglês
| MEDLINE | ID: mdl-35235536
7.
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.
J Neuromuscul Dis
; 8(4): 633-645, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33749658
8.
News about the genetics of congenital primary adrenal insufficiency.
Ann Endocrinol (Paris)
; 79(3): 174-181, 2018 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-29661472
9.
Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene.
Front Endocrinol (Lausanne)
; 9: 491, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30233493
10.
A splicing mutation in the DMD gene detected by next-generation sequencing and confirmed by mRNA and protein analysis.
Clin Chim Acta
; 448: 146-9, 2015 Aug 25.
Artigo
Inglês
| MEDLINE | ID: mdl-26148721
11.
Functional variants of POC5 identified in patients with idiopathic scoliosis.
J Clin Invest
; 125(3): 1124-8, 2015 Mar 02.
Artigo
Inglês
| MEDLINE | ID: mdl-25642776
12.
New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002-2011).
J Clin Endocrinol Metab
; 99(4): 1180-8, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24471566
13.
Mutational spectrum of cystic fibrosis in the Lebanese population.
J Cyst Fibros
; 9(6): 406-10, 2010 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-20797923