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.
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.
Int J Mol Sci
; 23(8)2022 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35457051
3.
First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.
Am J Med Genet A
; 185(2): 591-595, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33305890
4.
A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome.
J Pediatr Genet
; 12(3): 254-257, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37575653
5.
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
6.
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
7.
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
8.
CDK4/6 Inhibitor as a Novel Therapeutic Approach for Advanced Bladder Cancer Independently of RB1 Status.
Clin Cancer Res
; 25(1): 390-402, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30242024
9.
Cardiopatías congénitas y cromosomopatías en vida fetal: ¿siempre cariotipo? / Congenital heart defects and chromosomal anomalies in fetal life: should a chromosomal study always be offered?
Diagn. prenat. (Internet)
; 24(1): 15-22, ene.-mar. 2013.
Artigo
em Espanhol
| IBECS (Espanha) | ID: ibc-109277