Detalhe da pesquisa
1.
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
Nature
; 592(7852): 93-98, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33568816
2.
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities.
Mol Genet Metab
; 139(4): 107630, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37392700
3.
Czech dysplasia mimicking rheumatoid arthritis: Case series and literature review.
Mod Rheumatol
; 2023 Jul 19.
Artigo
Inglês
| MEDLINE | ID: mdl-37489771
4.
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
J Inherit Metab Dis
; 45(4): 769-781, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35279850
5.
Charcot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center.
J Peripher Nerv Syst
; 26(3): 290-297, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34190362
6.
Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair.
Am J Med Genet A
; 176(9): 1917-1928, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30070764
7.
Novel Variant of SLC34A3 in a Compound Heterozygous Brazilian Girl with Hereditary Hypophosphatemic Rickets with Hypercalciuria.
J Clin Res Pediatr Endocrinol
; 2023 Sep 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37680384
8.
Additional features of unique Primrose syndrome phenotype.
Am J Med Genet A
; 155A(6): 1379-83, 2011 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-21567911
9.
Tibial hemimelia in Langer-Giedion syndrome with 8q23.1-q24.12 interstitial deletion.
Am J Med Genet A
; 155A(11): 2784-7, 2011 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-21948702
10.
Unique skeletal manifestations in patients with Primrose syndrome.
Eur J Med Genet
; 63(8): 103967, 2020 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-32473227
11.
Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient.
Am J Med Genet A
; 146A(16): 2134-7, 2008 Aug 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18627062
12.
The signature of craniofacial deformation in fibrodysplasia ossificans progressiva.
Am J Med Genet A
; 158A(11): 2977-8; author reply 2979-80, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22987480
13.
Serological prevalence of celiac disease in Brazilian population of multiple sclerosis, neuromyelitis optica and myelitis.
Mult Scler Relat Disord
; 9: 125-8, 2016 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-27645359
14.
Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.
Gene
; 509(1): 124-30, 2012 Nov 01.
Artigo
Inglês
| MEDLINE | ID: mdl-22959135
15.
Craniofacial findings in fibrodysplasia ossificans progressiva: computerized tomography evaluation.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod
; 111(4): 499-502, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21420641
16.
Síndrome de MOebius e uso de misoprostol: Relato de dois casos / Moebius syndrome and the use of misoprostol: Report of two cases
An. Fac. Med. Univ. Fed. Pernamb
; 44(2): 126-8, 1999. ilus
Artigo
Português
| LILACS | ID: lil-256575