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.
Newborn screening for mucopolysaccharidosis type II: Lessons learned.
Mol Genet Metab
; 140(1-2): 107557, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36907694
3.
Multicenter Comparison of Nucleic Acid Amplification Tests for the Diagnosis of Rectal and Oropharyngeal Chlamydia trachomatis and Neisseria gonorrhoeae Infections.
J Clin Microbiol
; 60(1): e0136321, 2022 01 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34731020
4.
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
5.
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
6.
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
7.
Prevalence of Postoperative Periprosthetic Femur Fractures Between Two Different Femoral Component Designs Used in Direct Anterior Total Hip Arthroplasty.
J Arthroplasty
; 34(12): 3074-3079, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31383495
8.
Errors on a computer task and subclinical symptoms of attention-deficit/hyperactivity disorder (ADHD).
Scand J Psychol
; 59(5): 511-517, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29971801
9.
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
10.
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
11.
Combined immunodeficiency in a 3-year-old boy with 16p11.2 and 20p12.2-11.2 chromosomal duplications.
Am J Med Genet A
; 164A(2): 535-41, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24311374
12.
Clinical Evaluation of BD Veritor SARS-CoV-2 and Flu A+B Assay for Point-Of-Care System.
Microbiol Spectr
; 10(2): e0180721, 2022 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35412847
13.
Examining the role of COVID-19 testing availability on intention to isolate: A Randomized hypothetical scenario.
PLoS One
; 17(2): e0262659, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35108307
14.
Proactive parenting practices during early adolescence: a cluster approach.
J Adolesc
; 34(2): 203-14, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20554317
15.
Relational and social-cognitive correlates of early adolescents' forgiveness of parents.
J Adolesc
; 34(5): 903-13, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21296401
16.
Parenting in emerging adulthood: an examination of parenting clusters and correlates.
J Youth Adolesc
; 40(6): 730-43, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20809102
17.
A Medial Subvastus Approach for Lateral Unicompartmental Knee Arthroplasty: Technique Description and Early Outcome Results.
Arthroplast Today
; 9: 129-133, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34195316
18.
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
19.
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
20.
Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease.
Orphanet J Rare Dis
; 15(1): 73, 2020 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32183856