Detalhe da pesquisa
1.
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Am J Hum Genet
; 110(8): 1414-1435, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541189
2.
TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
Am J Med Genet A
; 191(5): 1261-1272, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36797513
3.
A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses.
Genet Med
; 21(10): 2199-2207, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30894705
4.
A survey of seizures and current treatments in 15q duplication syndrome.
Epilepsia
; 55(3): 396-402, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24502430