학술발표

GC녹십자의료재단의 학술발표 내역입니다.

Total 413

연도	학술지명/학회명	제목
2018	Ann Clin Lab Sci.	Oculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review.
2018	Pediatr Blood Cancer	A case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing.
2018	Obstet Gynecol Sci	Minimal deviation adenocarcinoma (adenoma malignum) of the uterine cervix : clinicopathological analysis of 17 cases.
2018	Exp Clin Endocrinol Diabetes	Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism.
2018	LMO	Status of BRCA1/2 Genetic Testing Practices in Korea.
2018	Ann Clin Lab Sci	First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review.
2018	Mol Med Rep	A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.
2018	J Obstet Gynaecol Res	Clinicopathologic characteristics of double primary endometrial and colorectal cancers in a single institution.
2018	J Hum Genet	Characteristic dysmorphic features in congenital disorders of glycosylation type Iib.
2018	Int J Gynecol Cancer	Unclassified Variants of BRCA1 and BRCA2 in Korean Patients With Ovarian Cancer.

연도

학술지명/학회명

제목

2018

Ann Clin Lab Sci.

Oculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted
Gene Panel Sequencing: A Case Report and Literature Review.

2018

Pediatr Blood Cancer

A case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic
exome sequencing.

2018

Obstet Gynecol Sci

Minimal deviation adenocarcinoma (adenoma malignum) of the uterine cervix
: clinicopathological analysis of 17 cases.

2018

Exp Clin Endocrinol
Diabetes

Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and
Normosmic Idiopathic Hypogonadotropic Hypogonadism.

2018

LMO

Status of BRCA1/2 Genetic Testing Practices in Korea.

2018

Ann Clin Lab Sci

First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed
by Targeted Exome Sequencing, and Literature Review.

2018

Mol Med Rep

A novel missense mutation in the ACTG1 gene in a family with congenital autosomal
dominant deafness: A case report.

2018

J Obstet Gynaecol Res

Clinicopathologic characteristics of double primary endometrial and colorectal cancers
in a single institution.

2018

J Hum Genet

Characteristic dysmorphic features in congenital disorders of glycosylation type Iib.

2018

Int J Gynecol Cancer

Unclassified Variants of BRCA1 and BRCA2 in Korean Patients With Ovarian Cancer.

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