Detalhe da pesquisa
1.
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 345-360, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35045343
2.
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Am J Med Genet A
; 191(1): 135-143, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271811
3.
Intellectual disability genomics: current state, pitfalls and future challenges.
BMC Genomics
; 22(1): 909, 2021 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930158
4.
Damage Detection on a Beam with Multiple Cracks: A Simplified Method Based on Relative Frequency Shifts.
Sensors (Basel)
; 21(15)2021 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34372452
5.
Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.
BMC Med Genet
; 19(1): 74, 2018 05 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29747568
6.
Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?
J Hum Genet
; 62(2): 269-275, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27784894
7.
Characterisation of several ankyrin repeat protein variant 2, a phosphoprotein phosphatase 1-interacting protein, in testis and spermatozoa.
Reprod Fertil Dev
; 28(7): 1009-1019, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25562328
8.
Airway Management for Penetrating Neck Trauma: A Case Report.
Cureus
; 15(1): e33441, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36751184
9.
Use of the FMR1 Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis.
Genes (Basel)
; 13(3)2022 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35327973
10.
Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.
Eur J Med Genet
; 65(11): 104624, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130690
11.
Postpartum Ankle Pain: A Suspected Complex Regional Pain Syndrome or a Rare Cause of Septic Arthritis?
Cureus
; 13(11): e19509, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34912646
12.
Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions.
Sci Rep
; 11(1): 14676, 2021 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34282157
13.
Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?
Genes (Basel)
; 13(1)2021 12 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35052418
14.
Development and Validation of a Mathematical Model to Predict the Complexity of FMR1 Allele Combinations.
Front Genet
; 11: 557147, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33281866
15.
Investigation of spectroscopic and proteomic alterations underlying prostate carcinogenesis.
J Proteomics
; 226: 103888, 2020 08 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32619771
16.
Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20.
Front Genet
; 11: 1038, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33193593
17.
Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB.
Clin Case Rep
; 8(12): 2476-2482, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33363762
18.
Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome.
Mol Syndromol
; 9(1): 45-51, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29456483
19.
Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the FGA p.Glu545Val variant.
Amyloid
; 26(sup1): 144-145, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31343282
20.
Estudo das zonas e eficácia da recepção em função do jogador recebedor no voleibol sênior feminino / Study of zones and efficacy of the reception according the receiver player in female sênior volleyball
Rev. bras. educ. fís. esp
; 20(4): 257-270, out.-dez. 2006. ilus, tab, graf
Artigo
em Português
| LILACS | ID: lil-504443