Search Results - "Yoon Han, Ji"

Genetic Tests by Next Generation Sequencing in Children with Developmental Delay and/or Intellectual disability by Han, Ji Yoon, Lee, In Goo

“…Development in next generation sequencing (NGS) technologies have assisted to clarify diagnosis and treatment of developmental delay (DD)/intellectual…”
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A mucin-responsive hybrid two-component system controls Bacteroides thetaiotaomicron colonization and gut homeostasis by Lee, Ju-Hyung, Kwon, Soo-Jeong, Han, Ji-Yoon, Cho, Sang-Hyun, Cho, Yong-Joon, Park, Joo-Hong

“…The mammalian intestinal tract contains trillions of bacteria. However, the genetic factors that allow gut symbiotic bacteria to occupy intestinal niches…”
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Exploitation of Channel-Learning for Enhancing 5G Blind Beam Index Detection by Han, Ji Yoon, Jo, Ohyun, Kim, Juyeop

“…Proliferation of 5G devices and services has driven the demand for wide-scale enhancements ranging from data rate, reliability, and compatibility to sustain…”
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Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review by Han, Ji Yoon, Park, Joonhong

“…Noonan syndrome (NS)/Noonan syndrome with multiple lentigines (NSML) is commonly characterized by distinct facial features, a short stature, cardiac problems,…”
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A novel variant of the POLR3A gene in a patient with hypomyelinating POLR3-related leukodystrophy by Yoon Han, Ji, Gon Cho, Yong, Park, Joonhong, Jang, Woori

“…Hypomyelinating POLR3-related leukodystrophy is a group of rare neurological diseases characterized by degeneration of the white matter of the brain with…”
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Seasonal epidemiological and clinical characteristics of pediatric patients with human parainfluenza virus infection by serotype: a retrospective study by Han, Ji Yoon, Suh, Woosuck, Han, Seung Beom

“…The development of the polymerase chain reaction (PCR) test promoted the evaluation of the epidemiological and clinical characteristics of human parainfluenza…”
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The Aggravation of Neuropsychiatric Symptoms in the Offspring of a Korean Family with Intellectual Disability and Developmental Delay Caused by a Novel ARX p.Lys385Ter Variant by Han, Ji Yoon, Kim, Tae Yun, Gwack, Jin, Park, Joonhong

“…The mutations encompass a nearly continuous spectrum of neurodevelopmental disorders (NDDs), ranging from lissencephaly to Proud syndrome, as well as infantile…”
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A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B by Han, Ji Yoon, Gwack, Jin, Kim, Tae Yun, Park, Joonhong

“…Maturity-onset diabetes of the young (MODY; OMIM # 606391) comprises a cluster of inherited disorders within non-autoimmune diabetes mellitus (DM), typically…”
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Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1 by Han, Ji Yoon, Jang, Woori, Park, Joonhong

“…Myotonic dystrophy type 1 (DM1) is the most common autosomal-dominant disorder caused by the CTG repeat expansion of the DMPK, and it has been categorized into…”
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Novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review by Han, Ji Yoon, Park, Joonhong

“…SCN4A mutations account for a diverse array of clinical manifestations, encompassing periodic paralysis, myotonia, and newly recognized symptoms like classical…”
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A Recurrent De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review by Han, Ji Yoon, Park, Joonhong

“…The terminal 14q32 duplication has been reported often in association with other cytogenetic abnormalities, and individuals with this specific duplication…”
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Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33-p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review by Han, Ji Yoon, Park, Joonhong

“…A simultaneous analysis of nucleotide changes and copy number variations (CNVs) based on exome sequencing data was demonstrated as a potential new first-tier…”
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The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo TRAF7 p.Arg655Gln Variant by Kim, Kyung Hee, Han, Ji Yoon, Park, Joonhong, Cho, Jung Sun

“…-related disorders represent some of the rarest inherited disorders, exhibiting clinical features that overlap with cardiac, facial, and digital anomalies with…”
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Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome by Han, Ji Yoon, Cho, Yong Gon, Jo, Dae Sun, Park, Joonhong

“…16p11.2 copy number variations (CNVs) are increasingly recognized as one of the most frequent genomic disorders, and the 16p11.2 microdeletion exhibits broad…”
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Seizures Related to Influenza in Pediatric Patients: A Comparison with Seizures Associated with Other Respiratory Viral Infections by Han, Ji Yoon, Han, Seung Beom

“…Although febrile seizures are the most common neurological complications of influenza, there are few studies comparing seizure characteristics and outcomes…”
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Diagnostic approach with genetic tests for global developmental delay and/or intellectual disability: Single tertiary center experience by Han, Ji Yoon, Jang, Woori, Park, Joonhong, Kim, Myungshin, Kim, Yonggoo, Lee, In Goo

“…The child with global developmental delay (GDD)/intellectual disability (ID) is deserving of the appropriate evaluation available for improving the health and…”
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Pathogenetic and etiologic considerations of febrile seizures by Han, Ji Yoon, Han, Seung Beom

“…Febrile seizure (FS), which occurs in febrile children without underlying health problems, is the most common type of seizure disorder in children. The…”
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Clinical Significance of Isolated Sphenoid Sinusitis Identified in Pediatric Patients Presenting with Headache by Han, Seung Beom, Kim, Jee Min, Park, Eu Gene, Han, Ji Yoon, Lee, Jin

“…: Brain imaging studies in pediatric patients with headaches often reveal inflammation of the sphenoid sinus. When we encounter patients presenting with…”
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Characteristics of Epilepsy in Children with Cerebral Palsy: A Single Tertiary Center Study by Yeo, Hyein, Han, Ji Yoon, Kim, Jee Min

“…Purpose: The aim of this study was to describe the characteristics of epilepsy in cerebral palsy (CP) patients and identify risk factors for epilepsy and…”
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Febrile Seizures and Respiratory Viruses Determined by Multiplex Polymerase Chain Reaction Test and Clinical Diagnosis by Han, Ji Yoon, Han, Seung Beom

“…Febrile seizure (FS) is a common benign seizure disorder of young children. Although upper respiratory tract infection is the cause of fever in most episodes…”
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