Detalhe da pesquisa
1.
Antisense oligonucleotide therapeutic approach for Timothy syndrome.
Nature
; 628(8009): 818-825, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38658687
2.
De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures.
Mov Disord
; 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38576116
3.
Characterizing the cutaneous late effects of allogeneic hematopoietic stem cell transplantation: A systematic review.
Pediatr Transplant
; 28(1): e14618, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37786978
4.
Comprehensive Associations between Acidosis and the Skeleton in Patients with Kidney Disease.
J Am Soc Nephrol
; 34(4): 668-681, 2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36749125
5.
Reduced kidney function and hypertension in adolescents with low birth weight, NHANES 1999-2016.
Pediatr Nephrol
; 38(9): 3071-3082, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37052695
6.
Two congenital cases of pigmented epithelioid melanocytoma with unique clinical and genetic features.
Dermatol Online J
; 29(5)2023 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38478639
7.
Association of GSTM1 Deletion With Progression of CKD in Children: Findings From the Chronic Kidney Disease in Children (CKiD) Study.
Am J Kidney Dis
; 80(1): 79-86, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34871703
8.
Delineating the epilepsy phenotype of NGLY1 deficiency.
J Inherit Metab Dis
; 45(3): 571-583, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35243670
9.
Management of pediatric pemphigus vulgaris with rituximab: A case report and review of the literature.
Pediatr Dermatol
; 39(6): 960-966, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35871636
10.
Evaluation of Seizure Risk in Infants After Cardiopulmonary Bypass in the Absence of Deep Hypothermic Cardiac Arrest.
Neurocrit Care
; 36(1): 30-38, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34322828
11.
Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.
Am J Med Genet A
; 185(6): 1848-1853, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33683010
12.
AKI in Hospitalized Patients with and without COVID-19: A Comparison Study.
J Am Soc Nephrol
; 31(9): 2145-2157, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32669322
13.
Cutaneous sequelae in neonatal lupus: A retrospective cohort study.
J Am Acad Dermatol
; 83(2): 440-446, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31626881
14.
Disseminated De Novo Myeloid Sarcoma in a 17-year-old Boy.
Pediatr Dermatol
; 36(4): 509-510, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30941787
15.
Sinecatechins ointment for the treatment of warts in children.
Pediatr Dermatol
; 36(1): 121-124, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30168174
16.
Survival of Childhood Cancer and Subsequent Clinical Care.
JAMA
; 331(7): 616-617, 2024 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38497702
17.
Genetics of Focal Segmental Glomerulosclerosis in African American Children.
Am J Kidney Dis
; 81(6): 627-628, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37074247
18.
Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency.
Ann Neurol
; 81(5): 641-652, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28318037
19.
Autoimmune Lymphoproliferative Syndrome Masquerading as Posttransplant Lymphoproliferative Disorder.
J Pediatr Hematol Oncol
; 40(5): e305-e308, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28991130
20.
Effects of allergen sensitization on response to therapy in children with eosinophilic esophagitis.
Ann Allergy Asthma Immunol
; 119(2): 177-183, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28676207