Detalles de la búsqueda
1.
Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT.
Pediatr Nephrol
; 39(7): 2115-2129, 2024 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-38376554
2.
Supratentorial Demyelinating Lesions Following Severe Acute Respiratory Syndrome Coronavirus-2 Infection: A Pediatric Case Report.
Neuropediatrics
; 54(1): 73-77, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36564023
3.
MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy.
Epileptic Disord
; 25(6): 874-879, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37518898
4.
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing.
Mol Syndromol
; 14(5): 433-438, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37915395
5.
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs.
Front Genet
; 12: 732002, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34621295
6.
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances.
Front Genet
; 12: 625564, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33679889
Resultados
1 -
6
de 6
1
Próxima >
>>