Lista de obras - Mi-Ae Jang - Dominio Público Uruguay

A Rare Case of Essential Thrombocythemia with Coexisting JAK2 and MPL Driver Mutations

artículo científico publicado en 2020

A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB.

artículo científico publicado en 2013

A novel nonsense mutation Tyr301* of PROS1 causing protein S deficiency.

artículo científico

A unique case of dendritic cell neoplasm from monocyte-derived myeloid origin with distinct immunophenotype and cytomorphology.

artículo científico publicado en 2013

Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis

artículo científico publicado en 2015

Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis.

artículo científico publicado en 2013

Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

scientific article published on 01 September 2019

Chronic lymphocytic leukemia in Korean patients: frequent atypical immunophenotype and relatively aggressive clinical behavior

article

Correspondence: Response to "Evaluating the Cumulative Impact of Ionizing Radiation Exposure With Diagnostic Genetics"

scientific article published on 01 July 2019

Distribution of nontuberculous mycobacteria by multigene sequence-based typing and clinical significance of isolated strains

scientific article published on 05 February 2014

Effect of the Standardization of Diagnostic Tests on the Prevalence of Diabetes Mellitus and Impaired Fasting Glucose

artículo científico publicado en 2018

Evaluation of performance of the Real-Q NTM-ID kit for rapid identification of eight nontuberculous mycobacterial species.

artículo científico publicado en 2014

Evaluation of the iNtRON VRE vanA/vanB real-time PCR assay for detection of vancomycin-resistant enterococci

artículo científico publicado en 2014

Extra X chromosome in mosaic Klinefelter syndrome is associated with a hematologic malignancy

artículo científico publicado en 2013

First report on familial hemophagocytic lymphohistiocytosis with an abnormal immunophenotype and T cell monoclonality in Korea

artículo científico publicado en 2014

Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes

artículo científico publicado en 2015

Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals

artículo científico publicado en 2015

Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing.

artículo científico publicado en 2013

Identification of TSC1 and TSC2 Mutations in Korean Patients With Tuberous Sclerosis Complex

scientific article published on 01 April 2012

Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea

artículo científico publicado en 2015

Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1.

artículo científico publicado en 2015

Isolation and identification of Geosmithia argillacea from a fungal ball in the lung of a tuberculosis patient

artículo científico publicado en 2013

Mycobacterial infection after intravesical bacillus Calmette-Guërin treatment for bladder cancer: a case report

artículo científico publicado en 2011

Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiency

article

Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.

artículo científico publicado en 2015

Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing

scientific article published on 16 March 2020

Reporting Quality of Diagnostic Accuracy Studies in Laboratory Medicine: Adherence to Standards for Reporting of Diagnostic Accuracy Studies (STARD) 2015

artículo científico publicado en 2020

Sequence variation data of F8 and F9 genes in functionally validated control individuals: implications on the molecular diagnosis of hemophilia.

artículo científico publicado en 2013

Simultaneous occurrence of angioimmunoblastic T-cell lymphoma and plasma cell leukemia

artículo científico publicado en 2014

The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay

artículo científico publicado en 2020

The first Korean case of childhood acute myeloid leukemia with inv(11)(p15q22)/NUP98-DDX10 rearrangement: a rare but recurrent genetic abnormality

artículo científico publicado en 2014

The t(11;14)(q13;q32) translocation as a poor prognostic parameter for autologous stem cell transplantation in myeloma patients with extramedullary plasmacytoma.

artículo científico publicado en 2014

Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea

artículo científico publicado en 2016

Lista de obras de Mi-Ae Jang

A Rare Case of Essential Thrombocythemia with Coexisting JAK2 and MPL Driver Mutations

A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB.

A novel nonsense mutation Tyr301* of PROS1 causing protein S deficiency.

A unique case of dendritic cell neoplasm from monocyte-derived myeloid origin with distinct immunophenotype and cytomorphology.

Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis

Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis.

Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

Chronic lymphocytic leukemia in Korean patients: frequent atypical immunophenotype and relatively aggressive clinical behavior

Correspondence: Response to "Evaluating the Cumulative Impact of Ionizing Radiation Exposure With Diagnostic Genetics"

Distribution of nontuberculous mycobacteria by multigene sequence-based typing and clinical significance of isolated strains

Effect of the Standardization of Diagnostic Tests on the Prevalence of Diabetes Mellitus and Impaired Fasting Glucose

Evaluation of performance of the Real-Q NTM-ID kit for rapid identification of eight nontuberculous mycobacterial species.

Evaluation of the iNtRON VRE vanA/vanB real-time PCR assay for detection of vancomycin-resistant enterococci

Extra X chromosome in mosaic Klinefelter syndrome is associated with a hematologic malignancy

First report on familial hemophagocytic lymphohistiocytosis with an abnormal immunophenotype and T cell monoclonality in Korea

Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes

Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals

Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing.

Identification of TSC1 and TSC2 Mutations in Korean Patients With Tuberous Sclerosis Complex

Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea

Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1.

Isolation and identification of Geosmithia argillacea from a fungal ball in the lung of a tuberculosis patient

Mycobacterial infection after intravesical bacillus Calmette-Guërin treatment for bladder cancer: a case report

Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiency

Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.

Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing

Reporting Quality of Diagnostic Accuracy Studies in Laboratory Medicine: Adherence to Standards for Reporting of Diagnostic Accuracy Studies (STARD) 2015

Sequence variation data of F8 and F9 genes in functionally validated control individuals: implications on the molecular diagnosis of hemophilia.

Simultaneous occurrence of angioimmunoblastic T-cell lymphoma and plasma cell leukemia

The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay

The first Korean case of childhood acute myeloid leukemia with inv(11)(p15q22)/NUP98-DDX10 rearrangement: a rare but recurrent genetic abnormality

The t(11;14)(q13;q32) translocation as a poor prognostic parameter for autologous stem cell transplantation in myeloma patients with extramedullary plasmacytoma.

Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea