Detalhe da pesquisa
1.
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.
Hum Genet
; 137(11-12): 911-919, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30460542
2.
Lung disease caused by ABCA3 mutations.
Thorax
; 72(3): 213-220, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27516224
3.
Ethanolgel sclerotherapy of venous malformations improves health-related quality-of-life in adults and children - results of a prospective study.
Eur Radiol
; 27(6): 2482-2488, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27699470
4.
Ethanol-Gel Sclerotherapy of Venous Malformations: Effectiveness and Safety.
AJR Am J Roentgenol
; 209(6): 1390-1395, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28929808
5.
Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.
Eur Respir J
; 46(1): 197-206, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25657025
6.
Do patients clinically diagnosed with vascular malformations of 1 lower extremity benefit from imaging of both legs from pelvis to toe? A prospective MRI study.
J Am Acad Dermatol
; 82(4): 981-984, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31279030
7.
A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation.
Mov Disord
; 32(5): 797-799, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28150420
8.
Author Correction: Rectosigmoidal manifestations of venous malformations: MR imaging findings and interdisciplinary therapeutic modalities.
Sci Rep
; 10(1): 2458, 2020 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32034240
9.
Rectosigmoidal manifestations of venous malformations: MR imaging findings and interdisciplinary therapeutic modalities.
Sci Rep
; 9(1): 19916, 2019 12 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31882623
10.
[Acute abdominal pain in children]. / Akute Bauchschmerzen im Kindesalter: Diese Zeichen verraten den Notfall.
MMW Fortschr Med
; 154(4): 47-50, 52, 2012 Mar 08.
Artigo
em Alemão
| MEDLINE | ID: mdl-22619838
11.
The retrograde transvenous push-through method: a novel treatment of peripheral arteriovenous malformations with dominant venous outflow.
Cardiovasc Intervent Radiol
; 38(3): 623-31, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25762488
12.
Hypersensitivity pneumonitis: lessons for diagnosis and treatment of a rare entity in children.
Orphanet J Rare Dis
; 8: 121, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23924322