Detalhe da pesquisa
1.
Prophylactic Intramedullary Rodding After Femoral Lengthening in Patients With Achondroplasia and Hypochondroplasia.
J Pediatr Orthop
; 44(3): e249-e254, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38084006
2.
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion.
Ann Neurol
; 92(5): 793-806, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35897138
3.
The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection.
PLoS Pathog
; 15(8): e1007958, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31465518
4.
A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging.
Eur J Neurol
; 28(4): 1356-1365, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33151602
5.
Dietary oleuropein extract supplementation and its combination with α-tocopheryl acetate and selenium modifies the free fatty acid profile of pork and improves its stability.
J Sci Food Agric
; 101(6): 2337-2344, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33006761
6.
Orthopaedic disorders of pycnodysostosis: a report of five clinical cases.
Int Orthop
; 40(11): 2221-2231, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27562807
7.
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement.
medRxiv
; 2024 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38370827
8.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Nat Genet
; 56(3): 395-407, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38429495
9.
Dysphagia and mechanical ventilation in SARS-COV-2 pneumonia: It's real.
Clin Nutr
; 41(12): 2927-2933, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34879968
10.
Transcriptomic Evidence of the Immune Response Activation in Individuals With Limb Girdle Muscular Dystrophy Dominant 2 (LGMDD2) Contributes to Resistance to HIV-1 Infection.
Front Cell Dev Biol
; 10: 839813, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35646913
11.
Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum.
J Neurol
; 267(9): 2546-2555, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32367299
12.
Hydroxyurea-Induced Pneumopathy in a Patient With Myeloproliferative Syndrome.
Clin Med Insights Case Rep
; 11: 1179547618770688, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29899671
13.
[Mesenteric ischemia]. / Isquemia mesentérica.
Med Clin (Barc)
; 161(10): 461, 2023 11 24.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-37277253