Detalhe da pesquisa
1.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet
; 107(2): 311-324, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738225
2.
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Genet Med
; 22(7): 1215-1226, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32376980
3.
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
Am J Hum Genet
; 98(3): 579-587, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942290
4.
Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience.
J Pediatr
; 214: 165-167.e1, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31477379
5.
Continuous Venovenous Hemodialysis Via Extracorporeal Membrane Oxygenation Pump for Treatment of Hyperammonemia Secondary to Propionic Acidemia in Monochorionic Diamniotic Twin Boys.
J Pediatr
; 175: 231-2, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27283461
6.
Fabry disease in infancy and early childhood: a systematic literature review.
Genet Med
; 17(5): 323-30, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25232851
7.
Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants.
Genet Med
; 12(9): 573-86, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20860070
8.
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.
Int J Neonatal Screen
; 6(1): 4, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33073003
9.
Reported communication ability of persons with trisomy 18 and trisomy 13.
Dev Neurorehabil
; 18(5): 322-9, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-24180637