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1.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(1): 120-145, 2023 01 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36528028
2.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(3): 548, 2023 Mar 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36868207
3.
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
J Hum Genet
; 66(10): 995-1008, 2021 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-33875766
4.
Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel GALT Gene Mutation Identified.
Medicina (Kaunas)
; 56(11)2020 Oct 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-33113773
5.
First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant.
Eur J Med Genet
; 69: 104938, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38580081
6.
A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene.
Mol Genet Genomic Med
; 9(10): e1774, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34347384
7.
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders.
Orphanet J Rare Dis
; 15(1): 103, 2020 04 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-32334637
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