Detalhe da pesquisa
1.
Rally 'round the flag effects are not for all: Trajectories of institutional trust among populist and non-populist voters.
Soc Sci Res
; 119: 102986, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38609304
2.
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.
Am J Med Genet B Neuropsychiatr Genet
; : e32976, 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38385826
3.
Prenatal testing for imprinting disorders: A laboratory perspective.
Prenat Diagn
; 43(8): 973-982, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37340544
4.
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.
Clin Genet
; 102(4): 314-323, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842840
5.
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants.
Int J Mol Sci
; 23(22)2022 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36430969
6.
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Int J Mol Sci
; 23(11)2022 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35682590
7.
Masculinity, Perceived Vulnerability to COVID-19, and Adoption of Protective Behaviors.
Sex Cult
; 26(6): 2171-2186, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36061086
8.
Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients.
Int J Mol Sci
; 22(11)2021 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34071322
9.
Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation.
Am J Med Genet A
; 182(12): 2982-2987, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32954625
10.
Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome.
Int J Mol Sci
; 21(22)2020 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33187293
11.
Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.
Acta Neuropathol
; 137(1): 71-88, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30382371
12.
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.
Genet Res (Camb)
; 101: e3, 2019 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30829192
13.
Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome.
Pathobiology
; 86(4): 217-224, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31238307
14.
Mitochondrial Dynamics of Proximal Tubular Epithelial Cells in Nephropathic Cystinosis.
Int J Mol Sci
; 21(1)2019 Dec 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31888107
15.
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.
Int J Mol Sci
; 20(15)2019 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31344879
16.
A new look on politicized reticence to vaccination: populism and COVID-19 vaccine refusal.
Psychol Med
; 53(8): 3769-3770, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34734558
17.
Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort.
Am J Med Genet A
; 176(9): 1865-1871, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30240081
18.
Taurine Administration Recovers Motor and Learning Deficits in an Angelman Syndrome Mouse Model.
Int J Mol Sci
; 19(4)2018 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29621152
19.
Nomenclature and definition in asymmetric regional body overgrowth.
Am J Med Genet A
; 173(7): 1735-1738, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28475229
20.
Phenotypes and genotypes in individuals with SMC1A variants.
Am J Med Genet A
; 173(8): 2108-2125, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28548707