نتائج البحث - JaHyun Jang

Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in gene حسب Seung Heo, Ja-Hyun Jang, Jeesuk Yu

Connect to this object online.

First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel variant c.118G>C p.(Glu40Gln) حسب Cha Gon Lee, Ja-Hyun Jang, Ji-Young Seo

Connect to this object online.

Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability حسب Ji Yoon Han, Ja Hyun Jang, Joonhong Park, In Goo Lee

Connect to this object online.

Two Novel Mutations (c.883-4_890del and c.1684C>G) of WDR62 Gene Associated With Autosomal Recessive Primary Microcephaly: A Case Report حسب You Gyoung Yi, You Gyoung Yi, Dong-Woo Lee, Jaewon Kim, Ja-Hyun Jang, Ja-Hyun Jang, Sae-Mi Lee, Sae-Mi Lee, Dae-Hyun Jang

Connect to this object online.

Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1 حسب Jaewon Kim, Dong-Woo Lee, Ja-Hyun Jang, Myungshin Kim, Jisook Yim, Dae-Hyun Jang

Connect to this object online.

Serum 5-Hydroxyindoleacetic Acid and Ratio of 5-Hydroxyindoleacetic Acid to Serotonin as Metabolomics Indicators for Acute Oxidative Stress and Inflammation in Vancomycin-Associate... حسب Hyun-Seung Lee, Sang-Mi Kim, Ja-Hyun Jang, Hyung-Doo Park, Soo-Youn Lee

Connect to this object online.

Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay حسب Ji Yoon Han, Hyun Jeong Kim, Ja Hyun Jang, In Goo Lee, Joonhong Park, Joonhong Park

Connect to this object online.

Correction to: Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report حسب Hoo Young Lee, Dae-Hyun Jang, Jae-Won Kim, Dong-Woo Lee, Ja-Hyun Jang, Joungsu Joo

Connect to this object online.

Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report حسب Hoo Young Lee, Dae-Hyun Jang, Jae-Won Kim, Dong-Woo Lee, Ja-Hyun Jang, Joungsu Joo

Connect to this object online.

An atypical case of Noonan syndrome with mutation diagnosed by targeted exome sequencing حسب Jinsup Kim, Sung Yoon Cho, Aram Yang, Ja-Hyun Jang, Youngbin Choi, Ji-Eun Lee, Dong-Kyu Jin

Connect to this object online.

A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in gene حسب You-Min Kim, Yoon-Young Jang, Ji-Eun Jeong, Hye-Jin Park, Ja-Hyun Jang, Jin-Kyung Kim

Connect to this object online.

Optimal Protocols and Management of Clinical and Genomic Data Collection to Assist in the Early Diagnosis and Treatment of Multiple Congenital Anomalies حسب Heui Seung Jo, Misun Yang, So Yoon Ahn, Se In Sung, Won Soon Park, Ja-Hyun Jang, Yun Sil Chang

Connect to this object online.

A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling حسب Da Hyeon Kim, Misun Yang, Heui Seung Jo, JongHo Park, JaHyun Jang, Sunghwan Shin, SeHyung Son

Connect to this object online.

Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue حسب Hosun Bae, Min-Sun Kim, Hyojung Park, Ja-Hyun Jang, Jong-Moon Choi, Sae-Mi Lee, Sung Yoon Cho, Dong-Kyu Jin

Connect to this object online.

Case report: Suspecting guanine nucleotide-binding protein beta 1 mutation in dyskinetic cerebral palsy is important حسب Han-Byeol Choi, Yoonju Na, Jiwon Lee, Jeehun Lee, Ja-Hyun Jang, Jong-Won Kim, Jong-Won Kim, Jeong-Yi Kwon, Jeong-Yi Kwon

Connect to this object online.

The first Korean case with Floating-Harbor syndrome with a novel mutation diagnosed by targeted exome sequencing حسب Eun Mi Choi, Dong Hyun Lee, Seok Jin Kang, Ye Jee Shim, Heung Sik Kim, Jun Sik Kim, Jong In Jeong, Jung-Sook Ha, Ja-Hyun Jang

Connect to this object online.

Identification of a novel variant in the gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets حسب Ha Young Jo, Jung Hyun Shin, Hye Young Kim, Young Mi Kim, Heirim Lee, Mi Hye Bae, Kyung Hee Park, Ja-Hyun Jang, Min Jung Kwak

Connect to this object online.

Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1 حسب Won Kyung Kwon, Jee Ah Kim, Jong-Ho Park, Doo Ri Kim, Su Eun Park, Yae Jean Kim, Keon Hee Yoo, Ja-Hyun Jang, Eun Suk Kang

Connect to this object online.

Minimal deviation adenocarcinoma (adenoma malignum) of the uterine cervix: clinicopathological analysis of 17 cases حسب Min Hee Lee, Eun Soo Kim, Min Chul Choi, Jin-Hyung Heo, Ja-Hyun Jang, Sang Geun Jung, Hyun Park, Won Duk Joo, Chan Lee, Je Ho Lee

Connect to this object online.

Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings حسب Ji Young Yang, MD, Young Bae Sohn, MD, PhD, Jin-Sung Lee, MD, PhD, Ja-Hyun Jang, MD, PhD, Eun-So Lee, MD, PhD

Connect to this object online.