Detalhe da pesquisa
1.
Simpson-Golabi-Behmel syndrome in a 39-year-old male patient with suspected acromegaly-A case study.
Am J Med Genet A
; 179(2): 322-328, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30592149
2.
Evaluation of Microfluidics-FISH method in prenatal diagnosis.
Ginekol Pol
; 88(12): 670-673, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29303224
3.
Prenatal diagnosis of Langer-Giedion Syndrome confirmed by BACs-on-Beads technique.
Ginekol Pol
; 85(1): 66-9, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24505968
4.
Deciphering congenital heart defects, facial dysmorphism and intellectual developmental disorder (CHDFIDD) associated with constitutional CDK13 pathogenic variants - case report and literature review.
Ann Agric Environ Med
; 31(1): 147-150, 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38549490
5.
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.
Genes (Basel)
; 14(3)2023 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980952
6.
New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.
Arch Med Sci
; 18(2): 353-364, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35316923
7.
Single Nucleotide Polymorphisms of Interleukins and Toll-like Receptors and Neuroimaging Results in Newborns with Congenital HCMV Infection.
Viruses
; 13(9)2021 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34578364
8.
A new family with spastic paraplegia type 51 and novel mutations in AP4E1.
BMC Med Genomics
; 14(1): 131, 2021 05 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34006278
9.
The Limitations of Cytomegalovirus DNA Detection in Cerebrospinal Fluid of Newborn Infants With Congenital CMV Infection: A Tertiary Care Neonatal Center Experience.
Pediatr Infect Dis J
; 40(9): 838-845, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34285168
10.
Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.
Genes (Basel)
; 12(8)2021 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440431
11.
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Genes (Basel)
; 12(12)2021 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34946966
12.
Antiviral treatment in congenital HCMV infection: The six-year experience of a single neonatal center in Poland.
Adv Clin Exp Med
; 29(10): 1161-1167, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33053275