Detalhe da pesquisa
1.
Clinical Features of Children With Serology Negative, Biopsy Positive Celiac Disease.
J Pediatr Gastroenterol Nutr
; 77(2): 240-243, 2023 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37669330
2.
Mechanistic understanding of the combined immunodeficiency in complete human CARD11 deficiency.
J Allergy Clin Immunol
; 148(6): 1559-1574.e13, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33872653
3.
Malignant Mesothelioma With EWSR1-ATF1 Fusion in Two Adolescent Male Patients.
Pediatr Dev Pathol
; 24(6): 570-574, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34121509
4.
The novel p.Ser263Phe mutation in the human high-affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndrome.
Hum Mutat
; 40(10): 1676-1683, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31299140
5.
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
Am J Hum Genet
; 96(2): 309-17, 2015 Feb 05.
Artigo
Inglês
| MEDLINE | ID: mdl-25658047
6.
Microscopic Polyangiitis with Spinal Cord Involvement: A Case Report and Review of the Literature.
J Stroke Cerebrovasc Dis
; 25(7): 1696-1704, 2016 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-27068775
7.
Pulmonary interstitial glycogenosis associated with pulmonary hypertension and hypertrophic cardiomyopathy.
Pediatr Cardiol
; 34(2): 462-6, 2013 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22453840
8.
Lafora Disease and Alpha-Synucleinopathy in Two Adult Free-Ranging Moose (Alces alces) Presenting with Signs of Blindness and Circling.
Animals (Basel)
; 12(13)2022 Jun 25.
Artigo
Inglês
| MEDLINE | ID: mdl-35804532
9.
The role of histopathology in diagnosing protracted diarrhea of infancy.
Fetal Pediatr Pathol
; 29(3): 144-57, 2010.
Artigo
Inglês
| MEDLINE | ID: mdl-20450267
10.
Duodenal Bulb Histology in Paediatric Celiac Disease: A Case-Control Study.
J Can Assoc Gastroenterol
; 3(5): 210-215, 2020 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-32905200
11.
Left hypoplastic lung and hemoptysis-rare familial unilateral pulmonary vein atresia.
Clin Case Rep
; 8(9): 1698-1703, 2020 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-32983480
12.
Esophageal mucoceles causing airway obstruction as a complication of esophageal diversion: two rare pediatric cases and a review of the literature.
Int J Pediatr Otorhinolaryngol
; 72(10): 1563-8, 2008 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-18718679
13.
GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy.
Front Neurol
; 9: 942, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30467490
14.
Echocardiographic detection of early myocardial calcification in acute neonatal myocarditis due to Coxsackie virus type B.
Pediatr Cardiol
; 30(6): 862-3, 2009 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-19412563
15.
A duplication of the mouth associated with a dysontogenic cyst: a case report and discussion of theories of origin.
JAMA Otolaryngol Head Neck Surg
; 140(5): 464-8, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24676596
16.
Syndromic congenital diarrhea because of the SPINT2 mutation showing enterocyte tufting and unique electron microscopy findings.
Clin Dysmorphol
; 22(3): 118-120, 2013 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-23689399
17.
Immunohistochemical expression of endothelial nitric oxide synthase and C-kit in the placenta of complete hydatidiform mole.
Fetal Pediatr Pathol
; 24(3): 141-7, 2005.
Artigo
Inglês
| MEDLINE | ID: mdl-16338875
18.
Familial gigantiform cementoma with brittle bone disease, pathologic fractures, and osteosarcoma: a possible explanation of an ancient mystery.
Pediatr Blood Cancer
; 44(4): 390-6, 2005 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-15602717
19.
Clinico-pathologic conference: 18-month old boy with fever and severe respiratory infection.
Pediatr Pathol Mol Med
; 21(5): 491-506, 2002.
Artigo
Inglês
| MEDLINE | ID: mdl-12425304
20.
Expression of c-kit in Ewing family of tumors: a comparison of different immunohistochemical protocols.
Pediatr Dev Pathol
; 7(4): 342-7, 2004.
Artigo
Inglês
| MEDLINE | ID: mdl-15383930