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1.
2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics.
Genet Med
; 24(10): 2167-2179, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-36040446
2.
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Am J Med Genet A
; 185(5): 1366-1378, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33522091
3.
The prevalence of congenital hearing loss in neonates with Down syndrome.
J Pediatr
; 166(1): 168-71, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25444523
4.
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
JCI Insight
; 1(9)2016 06 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-27631024
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