Detalhe da pesquisa
1.
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Mol Genet Metab
; 141(3): 108118, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38244286
2.
P2RX7 gene variants associate with altered inflammasome assembly and reduced pyroptosis in chronic nonbacterial osteomyelitis (CNO).
J Autoimmun
; 144: 103183, 2024 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38401466
3.
Live-attenuated vaccination for measles, mumps, and rubella in pediatric liver transplantation.
Pediatr Transplant
; 28(1): e14687, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38317348
4.
Acute severe non-A-E-hepatitis of unknown origin in children - A 30-year retrospective observational study from north-west Germany.
J Hepatol
; 78(5): 971-978, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36572350
5.
KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease.
J Pediatr
; 240: 284-291.e9, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34555379
6.
Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Pädiatrische Immunologie.
J Clin Immunol
; 40(5): 708-717, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32458183
7.
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.
Genet Med
; 22(11): 1863-1873, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32699352
8.
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Genet Med
; 22(3): 610-621, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31761904
9.
[Liver transplantation. Current aspects of pretransplantation diagnosis and rejection]. / Lebertransplantation. Aktuelle Aspekte der Prätransplantationsdiagnostik und Abstoßung.
Pathologe
; 41(5): 505-514, 2020 Sep.
Artigo
em Alemão
| MEDLINE | ID: mdl-32776226
10.
Molecular signature characterisation of different inflammatory phenotypes of systemic juvenile idiopathic arthritis.
Ann Rheum Dis
; 78(8): 1107-1113, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31005900
11.
Rapid development of pseudo-ground-glass bodies in liver transplants.
Histopathology
; 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38622086
12.
The recent outbreak of acute severe hepatitis in children of unknown origin - what is known so far.
J Hepatol
; 77(4): 1214-1215, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35714809
13.
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.
J Hepatol
; 67(6): 1253-1264, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28733223
14.
Familial Mediterranean fever in children and adolescents: factors for colchicine dosage and predicting parameters for dose increase.
Rheumatology (Oxford)
; 56(9): 1597-1606, 2017 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28859329
15.
Dysregulation of proinflammatory versus anti-inflammatory human TH17 cell functionalities in the autoinflammatory Schnitzler syndrome.
J Allergy Clin Immunol
; 138(4): 1161-1169.e6, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27040374
16.
Etiology, outcome and prognostic factors of childhood acute liver failure in a German Single Center.
Ann Hepatol
; 14(5): 722-8, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26256901
17.
Endoscopic treatment of pediatric post-transplant biliary complications is safe and effective.
Dig Endosc
; 27(4): 505-511, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25545826
18.
Pulse oximetry is insufficient for timely diagnosis of hepatopulmonary syndrome in children with liver cirrhosis.
J Pediatr
; 164(3): 546-52.e1-2, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24321540
19.
Music Therapy as a Topic in Medical Education: Course Concept and Student Evaluation of an Elective Course for Medical Students.
J Med Educ Curric Dev
; 11: 23821205241234537, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38405366
20.
Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome.
Front Pediatr
; 12: 1278047, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38445077