Detalhe da pesquisa
1.
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.
Clin Genet
; 105(2): 140-149, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37904618
2.
Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.
Clin Genet
; 104(6): 637-647, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37702321
3.
[Multiple endocrine neoplasia and very early onset inflammatory bowel disease. An unexpected association]. / Neoplasia endócrina múltiple y enfermedad inflamatoria intestinal de inicio muy temprano. Una asociación inesperada.
Medicina (B Aires)
; 84(2): 347-350, 2024.
Artigo
em Espanhol
| MEDLINE | ID: mdl-38683522
4.
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Genes (Basel)
; 14(6)2023 05 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37372360
5.
Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature.
Genes (Basel)
; 14(10)2023 10 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37895315
6.
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
Genes (Basel)
; 14(9)2023 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37761804