Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene

Seung Heo ,  Ja-Hyun Jang ,  Jeesuk Yu

Annals of Pediatirc Endocrinology & Metabolism

2019 .01

Vitamin D Dependent Rickets Type 1A Caused by CYP27B1 Mutation

Na Ry Bak ,  Eun Song Song ,  Eun Mi Yang 외 1명

Childhood Kidney Diseases

2019 .01

Fok I and Bsm I gene polymorphism of vitamin D receptor and essential hypertension: a mechanistic link

Richa Awasthi ,  P ,  iyanka Thapa Mange 외 3명

Clinical Hypertension

2023 .01

Therapeutic targets of vitamin D receptor ligands and their pharmacokinetic effects by modulation of transporters and metabolic enzymes

Han‑Joo Maeng ,  김유철 ,  Min Sik Choi

Journal of Pharmaceutical Investigation

2020 .01

Long-term clinical outcome and the identification of homozygous CYP27B1 gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A

조자향 ,  강은구 ,  김구환 외 3명

Annals of Pediatirc Endocrinology & Metabolism

2016 .01

Vitamin D receptor (VDR) mRNA overexpression is associated with poor prognosis in breast carcinoma

Sang Eun Nam ,  TongYi Jin ,  Kyoung Sik Pa 외 8명

Annals of Surgical Treatment and Research

2022 .10

Do VDR Gene Polymorphisms Contribute to Breast Cancer?

Shaikh ,  Fouzia ,  Baig 외 3명

Asian Pacific journal of cancer prevention : APJCP

2016 .01

Quercetin Directly Interacts with Vitamin D Receptor (VDR): Structural Implication of VDR Activation by Quercetin

Lee ,  Ki-Young ,  Choi 외 11명

Biomolecules & Therapeutics(구 응용약물학회지)

2016 .01

The Association of Acquired T790M Mutation with Clinical Characteristics after Resistance to First-Line Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor in Lung Adenocarcinoma

Yen-Hsiang Huang ,  Kuo-Hsuan Hsu ,  Jeng-Sen Tseng 외 9명

Cancer Research and Treatment

2018 .01

The Levels of Vitamin D, Vitamin D Receptor, Homocysteine and Complex B Vitamin in Children with Autism Spectrum Disorders

Hatice Altun

Clinical Psychopharmacology and Neuroscience

2018 .01

Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients

김희남 ,  신민호 ,  이란 외 2명

전남의대학술지

2019 .01

Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome

신석준 ,  이승옥 ,  김명신 외 6명

Annals of Laboratory Medicine

2015 .01

Serum 25-Hydroxy Vitamin D Levels and Association of Vitamin D Receptor Gene Polymorphisms in Vitiligo

Kim Tae-Eun ,  Kim Su Kang ,  Shin Min Kyung 외 2명

Journal of Korean Medical Science

2022 .04

Vitamin D Status and Vitamin D Receptor Gene Polymorphisms Are Associated with Pelvic Floor Disorders in Women

Jae Hyung Ahn ,  Yoo Hun Noh ,  Kyung Joo Um 외 2명

대한폐경학회지

2018 .01

Diagnosis and dental treatment of rickets: A case report

홍준기 ,  김성준 ,  감세훈

Oral Biology Research

2018 .01

Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test

신희철 ,  이한별 ,  유태경 외 10명

Cancer Research and Treatment

2020 .01

A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets

양미선 ,  김진섭 ,  양아람 외 4명

Annals of Pediatirc Endocrinology & Metabolism

2018 .01

Formula fed twin infants with recurrent hypocalcemic seizures with vitamin D deficient rickets and hyperphosphatemia

Jun Sik Kim ,  Hee Joung Lee ,  Ye Jee Shim 외 3명

Annals of Pediatirc Endocrinology & Metabolism

2015 .01

A novel mutation in the DNMT1 gene in a patient presenting with pure cerebellar ataxia

Algahtani ,  Hussein ,  Shi 외 2명

Journal of genetic medicine

2017 .01

Evaluation of Genetic Analysis with Autosomal Recessive Bestrophinopathy

Ali Me ,  t Koce ,  Mehmet Yasin Teke 외 3명

Journal of Retina

2019 .01