Detalhe da pesquisa
1.
QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum.
Clin Genet
; 99(1): 199-207, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33009816
2.
Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.
FASEB J
; 33(10): 11507-11527, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31345061
3.
SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.
Kidney Int
; 95(6): 1494-1504, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31005274
4.
Lymphnode tuberculosis in a 4-year-old boy with relapsed ganglioneuroblastoma: a case report.
BMC Infect Dis
; 18(1): 105, 2018 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29506484
5.
Age-related apparent diffusion coefficients of lumbar vertebrae in healthy children at 1.5 T.
Pediatr Radiol
; 48(7): 1008-1012, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29651606
6.
Gadolinium Brain Deposition after Macrocyclic Gadolinium Administration: A Pediatric Case-Control Study.
Radiology
; 285(1): 223-230, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28640695
7.
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration.
Brain
; 139(Pt 2): 346-54, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26626369
8.
Neonatal encephalocardiomyopathy caused by mutations in VARS2.
Metab Brain Dis
; 32(1): 267-270, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27502409
9.
Phenotype diversity associated with TP63 mutations.
J Dtsch Dermatol Ges
; 20(6): 872-875, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35593033
10.
Phänotypische Vielfalt bei Varianten im TP63-Gen.
J Dtsch Dermatol Ges
; 20(6): 871-875, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35711055
11.
De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly.
Clin Immunol
; 162: 27-30, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26529633
12.
The many faces of paediatric mitochondrial disease on neuroimaging.
Childs Nerv Syst
; 32(11): 2077-2083, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27449766
13.
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.
Neurogenetics
; 16(3): 237-40, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25663021
14.
COVID-19 in a Child with Pre-Existing Immunodeficiency, Cardiomyopathy, and Chronic Pulmonary Disease.
Klin Padiatr
; 232(5): 275-278, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32767294
15.
A novel homozygous Fas ligand mutation leads to early protein truncation, abrogation of death receptor and reverse signaling and a severe form of the autoimmune lymphoproliferative syndrome.
Clin Immunol
; 155(2): 231-7, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25451160
16.
A guide to diagnosis and treatment of Leigh syndrome.
J Neurol Neurosurg Psychiatry
; 85(3): 257-65, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23772060
17.
Evaluation of the impact of organ-specific dose reduction on image quality in pediatric chest computed tomography.
Pediatr Radiol
; 44(9): 1065-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25022489
18.
Regional deep hyperthermia for salvage treatment of children and adolescents with refractory or recurrent non-testicular malignant germ-cell tumours: an open-label, non-randomised, single-institution, phase 2 study.
Lancet Oncol
; 14(9): 843-52, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23823158
19.
A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.
Am J Med Genet A
; 161A(6): 1453-8, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23633430
20.
Microbial communities related to volatile organic compound emission in automobile air conditioning units.
Appl Microbiol Biotechnol
; 97(19): 8777-93, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23179618