Detalhe da pesquisa
1.
Axenfeld-Rieger syndrome: more than meets the eye.
J Med Genet
; 60(4): 368-379, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35882526
2.
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Brain
; 143(10): 2929-2944, 2020 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32979048
3.
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Ann Hum Genet
; 84(5): 380-392, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32427345
4.
Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers.
Cytogenet Genome Res
; 154(4): 187-195, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29739006
5.
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
J Clin Invest
; 134(1)2024 Jan 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37962958
6.
The Key Role of Purine Metabolism in the Folate-Dependent Phenotype of Autism Spectrum Disorders: An In Silico Analysis.
Metabolites
; 10(5)2020 May 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32384607
7.
Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications.
J AAPOS
; 24(6): 352.e1-352.e5, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33221470
8.
SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1.
J AAPOS
; 22(4): 312-314.e3, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29551606
9.
A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature.
Mol Cytogenet
; 11: 29, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29760779