Detalhe da pesquisa
1.
Growth charts in DYRK1A syndrome.
Am J Med Genet A
; 194(1): 9-16, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37740550
2.
GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders.
J Neural Transm (Vienna)
; 130(3): 459-471, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36436153
3.
Comparative genomics analysis of two Helcococcus kunzii strains co-isolated with Staphylococcus aureus from diabetic foot ulcers.
Genomics
; 114(3): 110365, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35413435
4.
Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann-Steiner syndromes.
Clin Genet
; 102(4): 296-304, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35821609
5.
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Genet Med
; 23(11): 2150-2159, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34345024
6.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Mol Genet Genomic Med
; 12(1): e2363, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38284452
7.
Proteomic insights into Helcococcus kunzii in a diabetic foot ulcer-like environment.
Proteomics Clin Appl
; 17(4): e2200069, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37062883
8.
Bacterial Interactions in the Context of Chronic Wound Biofilm: A Review.
Microorganisms
; 10(8)2022 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35893558
9.
Metabolic adaption to extracellular pyruvate triggers biofilm formation in Clostridioides difficile.
ISME J
; 15(12): 3623-3635, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34155333
10.
A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum.
Eur J Med Genet
; 63(4): 103857, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31978614
11.
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
Eur J Med Genet
; 63(10): 104004, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32688057