Detalhe da pesquisa
1.
Chromosomal Microarray Reinterpretation: Applications to Pediatric Practice.
J Pediatr
; 243: 219-223, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34953820
2.
The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency.
Pediatr Nephrol
; 37(6): 1415-1418, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34854955
3.
Clinical Exome Studies Have Inconsistent Coverage.
Clin Chem
; 66(1): 199-206, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32609854
4.
Reinterpretation of Chromosomal Microarrays with Detailed Medical History.
J Pediatr
; 222: 180-185.e1, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32417076
5.
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
Am J Hum Genet
; 99(4): 934-941, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616479
6.
A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay.
Cytogenet Genome Res
; 159(1): 19-25, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31487712
7.
Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency.
Mol Genet Metab
; 116(4): 269-74, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26527160
8.
Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia.
Mov Disord Clin Pract
; 10(1): 109-114, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36698992
9.
Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management.
JIMD Rep
; 64(6): 403-409, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37927481
10.
Novel pathogenic UQCRC2 variants in a female with normal neurodevelopment.
Cold Spring Harb Mol Case Stud
; 9(4)2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37709555
11.
An interactive web application for exploring human plasma and fibroblast metabolomics data from patients with inborn errors of metabolism.
bioRxiv
; 2023 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168314
12.
Recombinant chromosome 7 in a mosaic 45,X/47,XXX patient.
Am J Med Genet A
; 158A(1): 206-14, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22106088
13.
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.
Ther Adv Musculoskelet Dis
; 14: 1759720X221084848, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35342457
14.
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
JAMA Netw Open
; 3(4): e203812, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32347949
15.
Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients.
JAMA Pediatr
; 173(1): e182302, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30398534
16.
Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans.
Cell Rep
; 27(5): 1376-1386.e6, 2019 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31042466
17.
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
Orphanet J Rare Dis
; 10: 99, 2015 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-26289392
18.
Genomic Analyses of Patients With Unexplained Early-Onset Scoliosis.
Spine Deform
; 2(5): 324-332, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27927329
19.
IKBKG Mutation With Incontinentia Pigmenti and Ring-Enhancing Encephalopathy.
JAMA Neurol
; 72(12): 1533-5, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26658971
20.
Diagnostic yield of clinical next-generation sequencing panels for epilepsy.
JAMA Neurol
; 71(5): 650-1, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24818677