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1.
Natural history of KBG syndrome in a large European cohort.
Hum Mol Genet
; 31(24): 4131-4142, 2022 12 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-35861666
2.
Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study.
Int J Legal Med
; 137(6): 1787-1801, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37178278
3.
Case report: Two heterozygous pathogenic variants of CYP24A1: A novel cause of hypercalcemia and nephrocalcinosis in adulthood.
Front Med (Lausanne)
; 9: 1020096, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36703897
4.
Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom.
J Community Genet
; 13(3): 313-327, 2022 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-35523996
5.
Correction to: Codesigning models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom.
J Community Genet
; 13(3): 365-369, 2022 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-35773560
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