Detalhe da pesquisa
1.
Trio RNA sequencing in a cohort of medically complex children.
Am J Hum Genet
; 110(5): 895-900, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36990084
2.
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Mol Genet Metab
; 140(1-2): 107715, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37907381
3.
Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.
Mol Genet Metab
; 120(3): 235-242, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28122681
4.
Failure of Romidepsin to Treat Relapsed/Refractory Peripheral T-Cell Lymphoma in Children: A Single-center Experience.
J Pediatr Hematol Oncol
; 43(5): e745-e748, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32427705
5.
Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals.
Clin Chem
; 61(5): 760-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25759465
6.
A novel deep intronic variant in LAMA2 identified by RNA sequencing.
Neuromuscul Disord
; 39: 19-23, 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38691940
7.
A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.
HGG Adv
; 5(3): 100299, 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38659227
8.
Marked biological variance in endocrine and biochemical markers in childhood: establishment of pediatric reference intervals using healthy community children from the CALIPER cohort.
Clin Chem
; 59(9): 1393-405, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23637247
9.
Complex biological pattern of fertility hormones in children and adolescents: a study of healthy children from the CALIPER cohort and establishment of pediatric reference intervals.
Clin Chem
; 59(8): 1215-27, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23637248
10.
Gene mutations as a non-invasive measure of adult cochlear implant performance: Variable outcomes in patients with select TMPRSS3 mutations.
PLoS One
; 18(9): e0291600, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37713394
11.
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Nat Cancer
; 4(2): 203-221, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36585449
12.
Closing the gaps in pediatric laboratory reference intervals: a CALIPER database of 40 biochemical markers in a healthy and multiethnic population of children.
Clin Chem
; 58(5): 854-68, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22371482
14.
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.
JIMD Rep
; 50(1): 20-30, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31741823
15.
The CF Canada-Sick Kids Program in individual CF therapy: A resource for the advancement of personalized medicine in CF.
J Cyst Fibros
; 18(1): 35-43, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29685812
16.
Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism.
Pediatrics
; 137(1)2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26684475
17.
Dynamic biological changes in metabolic disease biomarkers in childhood and adolescence: A CALIPER study of healthy community children.
Clin Biochem
; 48(13-14): 828-36, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25977068
18.
Strategies to rescue the consequences of inducible arginase-1 deficiency in mice.
PLoS One
; 10(5): e0125967, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25938595
19.
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.
Orphanet J Rare Dis
; 10: 12, 2015 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25758715
20.
Prognostic value of quantitatively assessed KLK7 expression in ovarian cancer.
Clin Biochem
; 36(2): 135-43, 2003 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-12633763