Detalhe da pesquisa
1.
Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage.
Am J Med Genet A
; 191(1): 265-270, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36282022
2.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genet Med
; 24(1): 130-145, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906502
3.
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Genet Med
; 23(2): 374-383, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33077894
4.
Improved definition of growing pains: A common familial primary pain disorder of early childhood.
Paediatr Neonatal Pain
; 4(2): 78-86, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35719219
5.
Familial and Genetic Influences on the Common Pediatric Primary Pain Disorders: A Twin Family Study.
Children (Basel)
; 8(2)2021 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33525537
6.
Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency.
J Mol Diagn
; 23(7): 894-905, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33962052
7.
Contrasting painless and painful phenotypes of pediatric restless legs syndrome: a twin family study.
Sleep Med
; 75: 361-367, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32950881
8.
Common Pediatric Pain Disorders and Their Clinical Associations.
Clin J Pain
; 33(12): 1131-1140, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28272118