Detalhe da pesquisa
1.
Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.
Pediatr Res
; 2023 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38052860
2.
An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy.
Neurol Sci
; 44(9): 3303-3305, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37213040
3.
Impact of Antithyroperoxidase Antibodies (Anti-TPO) on Ovarian Reserve and Early Embryo Development in Assisted Reproductive Technology Cycles.
Int J Mol Sci
; 24(5)2023 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36902134
4.
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.
Clin Genet
; 100(4): 386-395, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34164801
5.
Rare SUZ12 variants commonly cause an overgrowth phenotype.
Am J Med Genet C Semin Med Genet
; 181(4): 532-547, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31736240
6.
Analyzing global utilization and missed opportunities in debt-for-nature swaps with generative AI.
Front Artif Intell
; 7: 1167137, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38379735
7.
The impact of intersectional racial and gender biases on minority female leadership over two centuries.
Sci Rep
; 14(1): 111, 2024 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38167539
8.
Opportunities for synthetic data in nature and climate finance.
Front Artif Intell
; 6: 1168749, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38264274
9.
Telehealth in genetic counselling consultations: the impact of COVID-19 in a Portuguese genetic healthcare service.
J Community Genet
; 14(1): 91-100, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36414926
10.
Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk.
Front Neurol
; 14: 1161940, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37325222
11.
Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital.
Endocr Metab Immune Disord Drug Targets
; 2023 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37711120
12.
Impact of Structural GLA Protein Changes on Peripheral GLA Activity and Substrate Accumulation in Fabry Disease Patients.
Endocr Metab Immune Disord Drug Targets
; 2023 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37711123
13.
Global database of cement production assets and upstream suppliers.
Sci Data
; 10(1): 696, 2023 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37833339
14.
A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1).
Biomedicines
; 11(1)2022 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672520
15.
Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication.
Biomedicines
; 10(12)2022 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36551834
16.
Quantifying people's experience during flood events with implications for hazard risk communication.
PLoS One
; 16(1): e0244801, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33411829
17.
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
18.
Prevalence and characteristics of sleep-disordered breathing in familial dysautonomia.
Sleep Med
; 45: 33-38, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29680425
19.
Predicting floods with Flickr tags.
PLoS One
; 12(2): e0172870, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28235035
20.
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