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1.
In vivo magnetic resonance spectroscopy for the differential diagnosis of a cerebral mass in a boy with precocious puberty: a case report and review of the literature.
Hormones (Athens)
; 22(3): 507-513, 2023 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-37365434
2.
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Expert Rev Mol Diagn
; 23(1): 85-103, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36714946
3.
Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy.
Mol Syndromol
; 12(3): 194-199, 2021 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-34177437
4.
A novel de novo KCNQ2 mutation in a child with treatmentresistant early-onset epileptic encephalopathy.
Turk J Pediatr
; 61(2): 279-281, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31951342
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