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1.
Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.
Clin Genet
; 95(2): 221-230, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29023665
2.
Rapid whole-genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease.
Pediatr Blood Cancer
; : e30394, 2023 Apr 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-37092873
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