Detalhe da pesquisa
1.
Sorting nexin 24 is required for α-granule biogenesis and cargo delivery in megakaryocytes.
Haematologica
; 107(8): 1902-1913, 2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35021601
2.
Lacrimal sac ciliated HPV16 positive, adenosquamous carcinoma-A case report of a unique histological variant at this site and a review of the literature.
Orbit
; : 1-6, 2022 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36398700
3.
Rough endoplasmic reticulum expansion: a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta.
Ultrastruct Pathol
; 45(6): 414-420, 2021 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34538206
4.
Microsporidial keratopathy in two dogs.
Vet Ophthalmol
; 23(2): 402-408, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31758652
5.
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Ann Neurol
; 84(5): 766-780, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30295347
6.
P4HB recurrent missense mutation causing Cole-Carpenter syndrome.
J Med Genet
; 55(3): 158-165, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29263160
7.
Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis.
Ultrastruct Pathol
; 42(2): 91-96, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29424602
8.
Dermatosparaxis (Ehlers-Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery.
Am J Med Genet A
; 161A(5): 1122-5, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23495203
9.
Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant.
Front Neurol
; 13: 937885, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36212643
10.
Vascular histopathology and connective tissue ultrastructure in spontaneous coronary artery dissection: pathophysiological and clinical implications.
Cardiovasc Res
; 118(7): 1835-1848, 2022 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34048532
11.
Type 1 collagenopathy presenting with a Russell-Silver phenotype.
Am J Med Genet A
; 155A(6): 1414-8, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21567925
12.
Infantile ATP7B-Related End-Stage Liver Disease: An Exceptional Wilson Disease Phenotype From Consecutive Generations.
JPGN Rep
; 2(3): e112, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37205945
13.
Development and validation of a quantitative electron microscopy score to assess acute cellular stress in the human exocrine pancreas.
J Pathol Clin Res
; 7(2): 173-187, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33225596
14.
Osteogenesis imperfecta type I: The role of deep phenotyping in a patient with a ruptured uterus.
Eur J Med Genet
; 63(12): 104095, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33166682
15.
De Barsy syndrome: a review of the phenotype.
Clin Dysmorphol
; 17(2): 99-107, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18388779
16.
Erratum to: Vascular histopathology and connective tissue ultrastructure in spontaneous coronary artery dissection: pathophysiological and clinical implications.
Cardiovasc Res
; 119(3): 880, 2023 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35553642
17.
A case of bilateral microsporidial keratitis from Bangladesh--infection by an insect parasite from the genus Nosema.
J Med Microbiol
; 56(Pt 9): 1250-1252, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17761492
18.
Cerebellar ataxia and sensory ganglionopathy associated with light-chain myeloma.
Cerebellum Ataxias
; 4: 1, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28074147
19.
Bilateral Ocular Myositis Associated with Whipple's Disease.
Ocul Oncol Pathol
; 3(1): 17-21, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28275598
20.
Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta: a novel study.
Clin Dysmorphol
; 24(2): 45-54, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25436829