Suchergebnisse - JaHyun Jang

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

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

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

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Two Novel Mutations (c.883-4_890del and c.1684C>G) of WDR62 Gene Associated With Autosomal Recessive Primary Microcephaly: A Case Report von 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

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

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

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

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

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

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

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

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

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

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

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

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The first Korean case with Floating-Harbor syndrome with a novel mutation diagnosed by targeted exome sequencing von 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

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Identification of a novel variant in the gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets von 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

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Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1 von 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

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

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

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