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Distinct regulation of the anterior and posterior myeloperoxidase expression by Etv2 and Gata1 during primitive Granulopoiesis in zebrafish

Developmental biology, 2014-09, Vol.393 (1), p.149-159

2014

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Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases

Molecular cytogenetics, 2011-05, Vol.4 (1), p.12-12, Article 12

2011

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Wnt5 signaling in vertebrate pancreas development

BMC biology, 2005-10, Vol.3 (1), p.23-23, Article 23

2005

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Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family

Annals of Rehabilitation Medicine, 2017, 41(3), , pp.505-510

2017

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Childhood X-linked adrenoleukodystrophy: clinical-pathologic overview and MR imaging manifestations at initial evaluation and follow-up

Radiographics, 2005-05, Vol.25 (3), p.619-631

2005

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Inhibition of Bcl-xL by ABT-737 enhances chemotherapy sensitivity in neurofibromatosis type 1-associated malignant peripheral nerve sheath tumor cells

International journal of molecular medicine, 2012-08, Vol.30 (2), p.443-450

2012

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A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome

Journal of human genetics, 2010-11, Vol.55 (11), p.764-766

2010

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Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach

Journal of human genetics, 2011-06, Vol.56 (6), p.469-471

2011

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Genetic Analysis of Early Endocrine Pancreas Formation in Zebrafish

Molecular endocrinology (Baltimore, Md.), 2006-01, Vol.20 (1), p.194-203

2006

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A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion

European journal of medical genetics, 2015-02, Vol.58 (2), p.86-94

2015

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Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability

Yonsei Medical Journal, 2018, 59(3), , pp.431-437

2018

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A case of Birt-Hogg-Dubé syndrome

Journal of Korean Medical Science, 2008, 23(2), , pp.332-335

2008

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Clinical and genetic characteristics of Korean patients with Gaucher disease

Blood cells, molecules, & diseases, 2011-01, Vol.46 (1), p.11-14

2011

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Strabismus and poor stereoacuity associated with Kabuki syndrome

Korean Journal of Ophthalmology, 2011, 25(2), , pp.136-138

2011

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Fragile X syndrome in Korea: a case series and a review of the literature

Journal of Korean Medical Science, 2008, 23(3), , pp.470-476

2008

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A novel nonsense mutation of GPR143 gene in a Korean kindred with X-linked congenital nystagmus

International journal of ophthalmology, 2016-09

2016

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TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions

Oncology reports, 2014-10, Vol.32 (4), p.1347-1354

2014

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14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay

Neonatal medicine (Seoul, Korea), 2020-11, Vol.27 (4), p.207-213

2020

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ACVR1R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A

Science translational medicine, 2015-09, Vol.7 (303), p.303ra137

2015

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Vhnf1 acts downstream of Bmp, Fgf, and RA signals to regulate endocrine beta cell development in zebrafish

Developmental biology, 2007-03, Vol.303 (2), p.561-575

2007

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Acute promyelocytic leukemia with complex translocation t(5;17;15)(q35;q21;q22): case report and review of the literature

Journal of pediatric hematology/oncology, 2011-10, Vol.33 (7), p.e326-e329

2011

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Structurally Abnormal Type II Collagen in a Severe Form of Kniest Dysplasia Caused by an Exon 24 Skipping Mutation

The Journal of biological chemistry, 1998-02, Vol.273 (8), p.4761-4768

1998

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Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta

Human mutation, 2006-06, Vol.27 (6), p.599-599

2006

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Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26

Journal of Korean Medical Science, 2010, 25(10), 143, pp.1539-1542

2010

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The Global State of the Genetic Counseling Profession

Distinct regulation of the anterior and posterior myeloperoxidase expression by Etv2 and Gata1 during primitive Granulopoiesis in zebrafish

Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases

Wnt5 signaling in vertebrate pancreas development

Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family

Childhood X-linked adrenoleukodystrophy: clinical-pathologic overview and MR imaging manifestations at initial evaluation and follow-up

Inhibition of Bcl-xL by ABT-737 enhances chemotherapy sensitivity in neurofibromatosis type 1-associated malignant peripheral nerve sheath tumor cells

A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome

Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach

Genetic Analysis of Early Endocrine Pancreas Formation in Zebrafish

A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion

Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability

A case of Birt-Hogg-Dubé syndrome

Clinical and genetic characteristics of Korean patients with Gaucher disease

Strabismus and poor stereoacuity associated with Kabuki syndrome

Fragile X syndrome in Korea: a case series and a review of the literature

A novel nonsense mutation of GPR143 gene in a Korean kindred with X-linked congenital nystagmus

TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions

14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay

ACVR1R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A

Vhnf1 acts downstream of Bmp, Fgf, and RA signals to regulate endocrine beta cell development in zebrafish

Acute promyelocytic leukemia with complex translocation t(5;17;15)(q35;q21;q22): case report and review of the literature

Structurally Abnormal Type II Collagen in a Severe Form of Kniest Dysplasia Caused by an Exon 24 Skipping Mutation

Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta

Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26

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