Lista de obras -

A generic approach to pathological lung segmentation

artículo científico publicado en 2014

Antibacterial activity of high-dose nitric oxide against pulmonary Mycobacterium abscessus disease

artículo científico publicado en 2020

Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents

artículo científico publicado en 2016

Common severe infections in chronic granulomatous disease

artículo científico publicado en 2014

Correction to "a generic approach to pathological lung segmentation".

artículo científico publicado en 2015

Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency

artículo científico publicado en 2016

Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

artículo científico publicado en 2016

Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: a multicenter experience.

artículo científico publicado en 2011

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia

artículo científico publicado en 2013

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.

artículo científico publicado en 2013

Lady Windermere Dissected: More Form Than Fastidious.

artículo científico publicado en 2016

Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.

artículo científico publicado en 2014

Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance

artículo científico publicado en 2019

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

artículo científico publicado en 2011

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype

artículo científico publicado en 2014

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

artículo científico publicado en 2013

Pulmonary Manifestations of the Autoimmune Lymphoproliferative Syndrome. A Retrospective Study of a Unique Patient Cohort.

artículo científico publicado en 2016

Randomized Trial of Liposomal Amikacin for Inhalation in Nontuberculous Mycobacterial Lung Disease

artículo científico publicado en 2017

Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia.

artículo científico publicado en 2013

Treatment of nontuberculous mycobacterial pulmonary disease: an official ATS/ERS/ESCMID/IDSA clinical practice guideline

scientific article published on 07 July 2020

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

artículo científico publicado en 2013

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

artículo científico publicado en 2013

Lista de obras de

A generic approach to pathological lung segmentation

Antibacterial activity of high-dose nitric oxide against pulmonary Mycobacterium abscessus disease

Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents

Common severe infections in chronic granulomatous disease

Correction to "a generic approach to pathological lung segmentation".

Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency

Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: a multicenter experience.

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.

Lady Windermere Dissected: More Form Than Fastidious.

Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.

Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

Pulmonary Manifestations of the Autoimmune Lymphoproliferative Syndrome. A Retrospective Study of a Unique Patient Cohort.

Randomized Trial of Liposomal Amikacin for Inhalation in Nontuberculous Mycobacterial Lung Disease

Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia.

Treatment of nontuberculous mycobacterial pulmonary disease: an official ATS/ERS/ESCMID/IDSA clinical practice guideline

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia