Detalhe da pesquisa
1.
ARF1-related disorder: phenotypic and molecular spectrum.
J Med Genet;
60(10): 999-1005, 2023 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37185208
2.
Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms.
Gastroenterology;
161(1): 287-300.e16, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33771553
3.
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.
Am J Med Genet A;
188(11): 3262-3277, 2022 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36209351
4.
vcf2fhir: a utility to convert VCF files into HL7 FHIR format for genomics-EHR integration.
BMC Bioinformatics;
22(1): 104, 2021 Mar 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33653260
5.
Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III.
Haematologica;
108(2): 581-587, 2023 02 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36200420
6.
Pediatric myelofibrosis due to compound heterozygous MPIG6B mutations in a patient of European ancestry.
Pediatr Blood Cancer;
70(3): e30023, 2023 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36184776
7.
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.
Pediatr Dermatol;
35(2): 188-197, 2018 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29334134
8.
Whole-Exome Sequencing Reveals Mutations in Genes Linked to Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome in Fatal Cases of H1N1 Influenza.
J Infect Dis;
213(7): 1180-8, 2016 Apr 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26597256
9.
Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis.
Blood;
124(8): 1331-4, 2014 Aug 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24916509
10.
Clinical delineation of the PACS1-related syndrome--Report on 19 patients.
Am J Med Genet A;
170(3): 670-5, 2016 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26842493
11.
The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.
Pediatr Blood Cancer;
61(6): 1034-40, 2014 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24470399
12.
Screening for Wiskott-Aldrich syndrome by flow cytometry.
J Allergy Clin Immunol;
142(1): 333-335.e8, 2018 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29729304
13.
Genetic Analysis and Functional Assessment of a TGFBR2 Variant in Micrognathia and Cleft Palate.
bioRxiv;
2024 Apr 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38645005
14.
Sync for Genes Phase 5: Computable artifacts for sharing dynamically annotated FHIR-formatted genomic variants.
Learn Health Syst;
7(4): e10385, 2023 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37860057
15.
Introducing HL7 FHIR Genomics Operations: a developer-friendly approach to genomics-EHR integration.
J Am Med Inform Assoc;
30(3): 485-493, 2023 02 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36548217
16.
The 2019-2020 Dengue Fever Epidemic: Genomic Markers Indicating Severity in Dominican Republic Children.
J Pediatric Infect Dis Soc;
12(3): 169-172, 2023 Apr 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36537278
17.
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.
BMC Biotechnol;
10: 10, 2010 Feb 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20146813
18.
A personalized medicine approach to optimize care for a pediatric cystic fibrosis patient with atypical clinical symptoms.
Pediatr Pulmonol;
59(1): 229-232, 2024 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37818777
19.
Systemic Juvenile Idiopathic Arthritis-Associated Lung Disease: Characterization and Risk Factors.
Arthritis Rheumatol;
71(11): 1943-1954, 2019 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31379071
20.
Brief Report: Novel UNC13D Intronic Variant Disrupting an NF-κB Enhancer in a Patient With Recurrent Macrophage Activation Syndrome and Systemic Juvenile Idiopathic Arthritis.
Arthritis Rheumatol;
70(6): 963-970, 2018 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29409136