Detalhe da pesquisa
1.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
J Med Genet;
60(7): 644-654, 2023 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36446582
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.
Coexistent HCN4 and GATA5 rare variants and Atrial Fibrillation in a large Spanish Family.
Can J Cardiol;
2024 Mar 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38432398
4.
Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine.
Eur J Pediatr;
171(1): 147-50, 2012 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21643651
5.
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
J Clin Med;
11(10)2022 May 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35628876
6.
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
7.
Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis.
J Neuromuscul Dis;
7(3): 309-313, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32333597
8.
Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.
Heart;
106(17): 1342-1348, 2020 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32451364
9.
Cystinuria in a patient with 19q12q13.1 deletion.
CEN Case Rep;
5(1): 67-69, 2016 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28509170
10.
Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine.
Clin Med Insights Pediatr;
6: 41-9, 2012.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23641165
11.
Reproductive options in osteogenesis imperfecta. A two cases report in the same family with a new mutation in COL1A1. / Opciones reproductivas en pacientes con osteogénesis imperfecta. A propósito de 2 casos de la misma familia con una nueva mutación en COL1A1.
Endocrinol Nutr;
63(7): 367-9, 2016.
Artigo
em Inglês, Espanhol
| MEDLINE
| ID: mdl-27178384
12.
[Acute rhabdomyolysis in a female heterozygotic carrier of an undescribed mutation in the PNPLA2 gene]. / Rabdomiólisis aguda en una paciente portadora en heterocigosis de una mutación no descrita en el gen PNPLA2.
Rev Neurol;
61(11): 525-6, 2015 Dec 01.
Artigo
em Espanhol
| MEDLINE
| ID: mdl-26602809
13.
[A novel missense mutation in the alpha-sarcoglycan gene in a Spanish family with muscular dystrophy]. / Nueva mutación en el gen del α-sarcoglicano en una familia española con distrofia muscular.
Rev Neurol;
56(11): 590-1, 2013 Jun 01.
Artigo
em Espanhol
| MEDLINE
| ID: mdl-23703062
14.
SRY-positive 46,XX male with cryptorchidism as the only presenting clinical feature.
Urol Int;
71(2): 219-21, 2003.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12890966