Lista de obras - Murim Choi - Dominio Público Uruguay

A Familial Case of Childhood Ataxia with Leukodystrophy Due to Novel POLR1C Mutations

artículo científico publicado en 2020

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

scientific article published on 12 July 2019

Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4

artículo científico publicado en 2016

Biallelic mutations in ABCB1 display recurrent reversible encephalopathy

artículo científico publicado en 2020

CLCN2 chloride channel mutations in familial hyperaldosteronism type II.

artículo científico publicado en 2018

Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse

artículo científico publicado en 2009

De novo mutations in histone-modifying genes in congenital heart disease.

artículo científico publicado en 2013

Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features

artículo científico publicado en 2019

Findings of a 1303 Korean whole-exome sequencing study.

artículo científico

Frequency data on four tetrameric STR loci D18S1270, D14S608, D16S3253 and D21S1437 in a Korean population.

artículo científico publicado en 2000

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy

artículo científico publicado en 2017

Genetic associations of in vivo pathology influence Alzheimer's disease susceptibility

artículo científico publicado en 2020

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

artículo científico publicado en 2009

Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population

scientific article published on 29 January 2020

ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta

artículo científico publicado en 2014

K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension

artículo científico publicado en 2011

Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population.

artículo científico publicado en 2017

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

artículo científico publicado en 2021

Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome

artículo científico publicado en 2017

Mutation profiles in early-stage lung squamous cell carcinoma with clinical follow-up and correlation with markers of immune function.

artículo científico publicado en 2017

Overlooked KCNQ4 variants augment the risk of hearing loss

scientific article published in 2023

Reply to "A novel mutation in the TM6 domain of GABBR2 leads to a Rett-like phenotype".

artículo científico publicado en 2018

Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up

artículo científico publicado en 2016

Lista de obras de Murim Choi

A Familial Case of Childhood Ataxia with Leukodystrophy Due to Novel POLR1C Mutations

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4

Biallelic mutations in ABCB1 display recurrent reversible encephalopathy

CLCN2 chloride channel mutations in familial hyperaldosteronism type II.

Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse

De novo mutations in histone-modifying genes in congenital heart disease.

Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features

Findings of a 1303 Korean whole-exome sequencing study.

Frequency data on four tetrameric STR loci D18S1270, D14S608, D16S3253 and D21S1437 in a Korean population.

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy

Genetic associations of in vivo pathology influence Alzheimer's disease susceptibility

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population

ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta

K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension

Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome

Mutation profiles in early-stage lung squamous cell carcinoma with clinical follow-up and correlation with markers of immune function.

Overlooked KCNQ4 variants augment the risk of hearing loss

Reply to "A novel mutation in the TM6 domain of GABBR2 leads to a Rett-like phenotype".

Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up