Detalhe da pesquisa
1.
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
Neuropediatrics
; 54(1): 31-36, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36126956
2.
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.
Neurogenetics
; 22(4): 343-346, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34296368
3.
Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.
Genes (Basel)
; 13(9)2022 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36140775
4.
Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling.
Eur J Med Genet
; 65(8): 104539, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35705147
5.
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.
Genes (Basel)
; 12(4)2021 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33921431
6.
Epilepsy and Autism spectrum disorder caused by a pathogenic variant in TNRC6B.
Seizure
; 110: 117-118, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348364