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Clinical and biochemical characterization of four patients with mutations in ECHS1

Orphanet journal of rare diseases, 2015-06, Vol.10 (1), p.79-79, Article 79

2015

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Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy

Journal of clinical immunology, 2014-10, Vol.34 (7), p.871-890

2014

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Fetal lung interstitial tumor (FLIT): A proposed newly recognized lung tumor of infancy to be differentiated from cystic pleuropulmonary blastoma and other developmental pulmonary lesions

The American journal of surgical pathology, 2010-12, Vol.34 (12), p.1762-1772

2010

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Late Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection

Journal of clinical immunology, 2015-11, Vol.35 (8), p.754-760

2015

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Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long‐term follow‐up study

Pediatric pulmonology, 2019-06, Vol.54 (6), p.837-846

2019

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Frequency, treatment, and functional outcome in children with hypersensitivity pneumonitis

Pediatric pulmonology, 2011-11, Vol.46 (11), p.1098-1107

2011

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New Entities and Diagnostic Challenges in Pediatric Lung Disease

Surgical pathology clinics, 2010-09, Vol.3 (3), p.495-513

Dishop, Megan K., MD

2010

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Autoimmune polyendocrine syndrome type 1: Utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab

Pediatric pulmonology, 2012-01, Vol.47 (1), p.84-87

2012

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A Novel Presentation of Diffuse Lung Disease Caused by Congenital Hypothyroidism

The Journal of pediatrics, 2009-10, Vol.155 (4), p.593-595

2009

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Diffuse pulmonary infiltrates in an immunocompromised patient

Journal of allergy and clinical immunology, 2008-02, Vol.121 (2), p.540-542

2008

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Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy

Neurology. Genetics, 2020-06, Vol.6 (3), p.e425-e425

2020

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Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Nature communications, 2018-10, Vol.9 (1), p.1-14, Article 4065

2018

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MUC5B expression and location in surfactant protein C mutations in children

Pediatric pulmonology, 2015-12, Vol.50 (12), p.1270-1276

2015

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Factors that increase diagnostic yield of surgical lung biopsy in pediatric oncology patients

Journal of pediatric surgery, 2015-09, Vol.50 (9), p.1490-1492

2015

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Fulminant pertussis: A multi-center study with new insights into the clinico-pathological mechanisms

Pediatric pulmonology, 2009-10, Vol.44 (10), p.970-980

2009

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Chronic active Epstein-Barr virus infection of natural killer cells presenting as severe skin reaction to mosquito bites

Journal of allergy and clinical immunology, 2005-08, Vol.116 (2), p.470-472

2005

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Successful treatment of bronchiolitis obliterans in a bone marrow transplant patient with tumor necrosis factor-alpha blockade

Pediatrics (Evanston), 2005-09, Vol.116 (3), p.767-770

2005

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Survival of an infant with homozygous surfactant protein C (SFTPC) mutation

Pediatric pulmonology, 2014-03, Vol.49 (3), p.E112-E115

2014

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Prenatal presentation and outcome of children with pleuropulmonary blastoma

Journal of pediatric surgery, 2006, Vol.41 (1), p.66-71

2006

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Pulmonary capillaritis in monozygotic twin boys

Pediatrics (Evanston), 2013-11, Vol.132 (5), p.e1445-e1448

2013

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How to prepare lung specimens for sectioning in cryostat

Biotechnic & histochemistry, 2011-06, Vol.86 (3), p.207-208

Dishop, Megan K

2011

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Idiopathic sclerosing inflammation presenting as sinusitis

Allergy & rhinology (Providence, R.I.), 2012-01, Vol.3 (2), p.e101-e104

2012

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Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome

American journal of medical genetics. Part A, 2009-09, Vol.149A (9), p.1935-1941

2009

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Flip-flop lung. An unusual etiology of bronchiectasis

American journal of respiratory and critical care medicine, 2014-10, Vol.190 (8), p.e29-e29

2014

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The Emergence of Zoonotic Onchocerca lupi Infection in the United States – A Case-Series

Clinical and biochemical characterization of four patients with mutations in ECHS1

Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy

Fetal lung interstitial tumor (FLIT): A proposed newly recognized lung tumor of infancy to be differentiated from cystic pleuropulmonary blastoma and other developmental pulmonary lesions

Late Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection

Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long‐term follow‐up study

Frequency, treatment, and functional outcome in children with hypersensitivity pneumonitis

New Entities and Diagnostic Challenges in Pediatric Lung Disease

Autoimmune polyendocrine syndrome type 1: Utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab

A Novel Presentation of Diffuse Lung Disease Caused by Congenital Hypothyroidism

Diffuse pulmonary infiltrates in an immunocompromised patient

Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

MUC5B expression and location in surfactant protein C mutations in children

Factors that increase diagnostic yield of surgical lung biopsy in pediatric oncology patients

Fulminant pertussis: A multi-center study with new insights into the clinico-pathological mechanisms

Chronic active Epstein-Barr virus infection of natural killer cells presenting as severe skin reaction to mosquito bites

Successful treatment of bronchiolitis obliterans in a bone marrow transplant patient with tumor necrosis factor-alpha blockade

Survival of an infant with homozygous surfactant protein C (SFTPC) mutation

Prenatal presentation and outcome of children with pleuropulmonary blastoma

Pulmonary capillaritis in monozygotic twin boys

How to prepare lung specimens for sectioning in cryostat

Idiopathic sclerosing inflammation presenting as sinusitis

Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome

Flip-flop lung. An unusual etiology of bronchiectasis

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