Detalhe da pesquisa
1.
A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing.
Eur J Neurol
; 31(1): e16088, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37823721
2.
Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability.
Genes (Basel)
; 14(7)2023 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37510258
3.
Melkersson-Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?
Genes (Basel)
; 14(7)2023 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37510386
4.
Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers.
Genes (Basel)
; 14(7)2023 06 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37510214
5.
Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders.
Genes (Basel)
; 14(3)2023 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980856
6.
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?
Front Neurosci
; 17: 1304080, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38249578
7.
Clinical and diagnostic imaging findings in a bengal tiger (Panthera tigris tigris) with cervical spondylomyelopathy: A case report.
Braz J Vet Med
; 44: e003921, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35749102
8.
Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders.
Genes (Basel)
; 13(10)2022 Sep 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36292569
9.
The Spritztube: A New Device for the Extraglottic Intubation of Rabbits.
Animals (Basel)
; 13(1)2022 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36611764
10.
Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study.
Biology (Basel)
; 11(11)2022 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36358266
11.
Whole exome sequencing identifies a rare variant in MAS1 gene in a subject with lethal COVID-19.
Gene Rep
; 29: 101705, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36348959
12.
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families.
PLoS One
; 17(10): e0275988, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36228008
13.
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations.
Genes (Basel)
; 13(12)2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36553533
14.
Genotype-Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results.
J Clin Med
; 10(21)2021 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34768579