Detalhe da pesquisa
1.
A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.
Int J Mol Sci
; 23(2)2022 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35055070
2.
Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report.
BMC Pulm Med
; 19(1): 178, 2019 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31619213
3.
Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome.
Multidiscip Respir Med
; 18(1): 909, 2023 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37404458
4.
Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy.
Mol Syndromol
; 14(5): 439-448, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37908896
5.
A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement.
Eur J Pediatr
; 169(1): 121-3, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19365639
6.
Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin.
Mol Syndromol
; 11(2): 73-82, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32655338
7.
MicroRNA-210 expression during childbirth and postpartum as a potential biomarker of acute fetal hypoxia.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
; 163(3): 259-264, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30565568
8.
Complex analysis of the p53 tumor suppressor in lung carcinoma.
Oncol Rep
; 35(3): 1859-67, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26718964
9.
Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement.
Mol Genet Metab
; 89(4): 300-9, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16931086