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1.
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Genet Med
; 21(9): 2043-2058, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30842647
2.
The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies.
Mol Genet Genomic Med
; 11(5): e2148, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36785910
3.
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
NPJ Genom Med
; 7(1): 45, 2022 Jul 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-35906228
4.
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Eur J Hum Genet
; 27(3): 408-421, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30552426
5.
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
Eur J Hum Genet
; 26(2): 197-209, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29321670
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