Lista de obras -

A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity.

artículo científico publicado en 2009

Androgen therapy in inherited bone marrow failure syndromes: analysis from the Canadian Inherited Marrow Failure Registry

scientific article published on 03 March 2020

Anemia Screening and Treatment Outcomes of Children in a Low-resource Community in the Dominican Republic

artículo científico publicado en 2015

Case 2: Dropping platelet counts in the neonatal intensive care unit - an unsuspected cause for thrombocytopenia in a neonate

artículo científico publicado en 2011

Clinical and genetic analysis of unclassifiable inherited bone marrow failure syndromes

artículo científico publicado en 2008

Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation

artículo científico publicado en 2011

Disease progression in recently diagnosed patients with inherited marrow failure syndromes: a Canadian Inherited Marrow Failure Registry (CIMFR) report

artículo científico publicado en 2006

Extent of microcytic anemia among children in a low-income, peri-urban community in the Dominican Republic using different cut-points

artículo científico publicado en 2014

Fludarabine, Campath and Low dose Cyclophosphamide (FCClow) with or without TBI Conditioning Results in Excellent Transplant Outcomes in Children with Severe Aplastic Anemia

artículo científico publicado en 2020

Generation and optimization of the self-administered pediatric bleeding questionnaire and its validation as a screening tool for von Willebrand disease

artículo científico publicado en 2017

Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.

artículo científico publicado en 2011

Hemophilia prophylaxis adherence and bleeding using a tailored, frequency-escalated approach: The Canadian Hemophilia Primary Prophylaxis Study

scientific article published on 29 January 2020

Hepatitis A and B immunization for individuals with inherited bleeding disorders

artículo científico publicado en 2009

IVMP+IVIG raises platelet counts faster than IVIG alone: results of a randomized, blinded trial in childhood ITP

scientific article published on 01 April 2020

Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes

artículo científico publicado en 2015

Leishmania in HLH: a rare finding with significant treatment implications.

artículo científico publicado en 2013

Mechanisms of defective erythropoiesis and anemia in pediatric acute lymphoblastic leukemia (ALL).

artículo científico

Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.

artículo científico publicado en 2017

PROTECT VIII Kids: BAY 94-9027 (PEGylated Recombinant Factor VIII) safety and efficacy in previously treated children with severe haemophilia A

artículo científico publicado en 2020

Real-world data of immune tolerance induction using recombinant factor VIII Fc fusion protein in patients with severe haemophilia A with inhibitors at high risk for immune tolerance induction failure: A follow-up retrospective analysis

artículo científico publicado en 2020

Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels

scientific article published on 09 December 2019

Reduced intensity hematopoietic stem-cell transplantation across human leukocyte antigen barriers in a patient with congenital amegakaryocytic thrombocytopenia and monosomy 7.

artículo científico publicado en 2005

Retroperitoneal Angiomatoid Fibrous Histiocytoma Presenting as a Recurrent Spontaneous Retroperitoneal Hemorrhage in a 9-Year-Old Boy.

artículo científico publicado en 2018

Safety and efficacy of tranexamic acid in bleeding paediatric trauma patients: a systematic review protocol

artículo científico publicado en 2016

Tailored frequency-escalated primary prophylaxis for severe haemophilia A: results of the 16-year Canadian Hemophilia Prophylaxis Study longitudinal cohort

article

The clinical impact of copy number variants in inherited bone marrow failure syndromes

artículo científico publicado en 2017

The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes

artículo científico publicado en 2015

Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4).

artículo científico publicado en 2010

Validation of the school age self-administered pediatric bleeding questionnaire (Self-PBQ) in children aged 8-12 years

scientific article published on 22 March 2019

Vitamin B12 Deficiency in Infancy: The Case for Screening

artículo científico publicado en 2016

Lista de obras de

A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity.

Androgen therapy in inherited bone marrow failure syndromes: analysis from the Canadian Inherited Marrow Failure Registry

Anemia Screening and Treatment Outcomes of Children in a Low-resource Community in the Dominican Republic

Case 2: Dropping platelet counts in the neonatal intensive care unit - an unsuspected cause for thrombocytopenia in a neonate

Clinical and genetic analysis of unclassifiable inherited bone marrow failure syndromes

Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation

Disease progression in recently diagnosed patients with inherited marrow failure syndromes: a Canadian Inherited Marrow Failure Registry (CIMFR) report

Extent of microcytic anemia among children in a low-income, peri-urban community in the Dominican Republic using different cut-points

Fludarabine, Campath and Low dose Cyclophosphamide (FCClow) with or without TBI Conditioning Results in Excellent Transplant Outcomes in Children with Severe Aplastic Anemia

Generation and optimization of the self-administered pediatric bleeding questionnaire and its validation as a screening tool for von Willebrand disease

Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.

Hemophilia prophylaxis adherence and bleeding using a tailored, frequency-escalated approach: The Canadian Hemophilia Primary Prophylaxis Study

Hepatitis A and B immunization for individuals with inherited bleeding disorders

IVMP+IVIG raises platelet counts faster than IVIG alone: results of a randomized, blinded trial in childhood ITP

Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes

Leishmania in HLH: a rare finding with significant treatment implications.

Mechanisms of defective erythropoiesis and anemia in pediatric acute lymphoblastic leukemia (ALL).

Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.

PROTECT VIII Kids: BAY 94-9027 (PEGylated Recombinant Factor VIII) safety and efficacy in previously treated children with severe haemophilia A

Real-world data of immune tolerance induction using recombinant factor VIII Fc fusion protein in patients with severe haemophilia A with inhibitors at high risk for immune tolerance induction failure: A follow-up retrospective analysis

Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels

Reduced intensity hematopoietic stem-cell transplantation across human leukocyte antigen barriers in a patient with congenital amegakaryocytic thrombocytopenia and monosomy 7.

Retroperitoneal Angiomatoid Fibrous Histiocytoma Presenting as a Recurrent Spontaneous Retroperitoneal Hemorrhage in a 9-Year-Old Boy.

Safety and efficacy of tranexamic acid in bleeding paediatric trauma patients: a systematic review protocol

Tailored frequency-escalated primary prophylaxis for severe haemophilia A: results of the 16-year Canadian Hemophilia Prophylaxis Study longitudinal cohort

The clinical impact of copy number variants in inherited bone marrow failure syndromes

The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes

Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4).

Validation of the school age self-administered pediatric bleeding questionnaire (Self-PBQ) in children aged 8-12 years

Vitamin B12 Deficiency in Infancy: The Case for Screening