Detalhe da pesquisa
1.
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
PLoS Genet
; 18(3): e1010129, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35353811
2.
Mice with a Pax2 missense variant display impaired glomerular repair.
Am J Physiol Renal Physiol
; 326(5): F704-F726, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38482556
3.
GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study.
Genet Med
; : 101144, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38641994
4.
The association between symptom burden and processing speed and executive functioning at 4 and 12 weeks following pediatric concussion.
J Int Neuropsychol Soc
; : 1-13, 2024 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38273645
5.
Social adjustment in children diagnosed with sickle cell disease: A retrospective study.
Pediatr Blood Cancer
; 71(3): e30807, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38110802
6.
Outer retinal microcavitations in Retinitis Pigmentosa: a novel OCT finding common in RP1-related retinopathy.
Retina
; 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38478753
7.
Patterns of WISC-V Performance in Children with Congenital Heart Disease.
Pediatr Cardiol
; 45(3): 483-490, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38214737
8.
Genome-wide screening reveals the genetic basis of mammalian embryonic eye development.
BMC Biol
; 21(1): 22, 2023 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36737727
9.
Zebrafish model of RERE syndrome recapitulates key ophthalmic defects that are rescued by small molecule inhibitor of shh signaling.
Dev Dyn
; 252(4): 495-509, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36576487
10.
Structural brain network lateralization across childhood and adolescence.
Hum Brain Mapp
; 44(4): 1711-1724, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36478489
11.
Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal Dystrophy.
Ophthalmology
; 130(4): 423-432, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36332842
12.
DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation.
J Med Genet
; 59(3): 294-304, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495304
13.
A Prospective Cohort Study of the Association Between Preinjury Psychosocial Function and Postconcussive Symptoms in Pediatric Mild Traumatic Brain Injury: An A-CAP Study.
J Head Trauma Rehabil
; 38(4): 294-307, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36602261
14.
Genotype-Phenotype Association in ABCA4-Associated Retinopathy.
Adv Exp Med Biol
; 1415: 289-295, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37440047
15.
Are Self-Reported and Parent-Reported Attention Problems and Hyperactivity Associated With Higher Rates of Concussion in Youth Ice Hockey Players?
Clin J Sport Med
; 33(2): 130-138, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36731042
16.
Psychosocial Factors Associated With Time to Recovery After Concussion in Adolescent Ice Hockey Players.
Clin J Sport Med
; 2023 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37707392
17.
Targeting Novel LPXTG Surface Proteins with Monoclonal Antibodies for Immunomagnetic Separation of Listeria monocytogenes.
Foodborne Pathog Dis
; 20(5): 186-196, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37172301
18.
Convergent Validity of Myheartsmap: A Pediatric Psychosocial Health Screening Tool.
Child Psychiatry Hum Dev
; 54(1): 66-75, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34350505
19.
Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.
Am J Med Genet C Semin Med Genet
; 190(1): 121-130, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35312150
20.
The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.
Hum Mol Genet
; 29(13): 2109-2123, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32186706