Bearbmagovva

First Successful Application of Preimplantation Genetic Diagnosis for Lethal Neonatal Rigidity and Multifocal Seizure Syndrome in Korea: A Case Report

Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is a severe autosomal recessive epileptic encephalopathy characterized by rigidity, intractable multifocal seizures, microcephaly, apnea, and bradycardia immediately after birth. RMFSL is related to a mutation in breast cancer 1-associ...

Furkejuvvon:

Bibliográfalaš dieđut
Váldodahkkit:	Gyeong Eun Yeom (Dahkki), Young Hwa Jung (Dahkki), Soo Yeon Kim (Dahkki), Sun Ah Choi (Dahkki), Hunmin Kim (Dahkki), Chang Won Choi (Dahkki)
Materiálatiipa:	Girji
Almmustuhtton:	Korean Society of Neonatology, 2022-11-01T00:00:00Z.
Fáttát:	article
Liŋkkat:	Connect to this object online.
Fáddágilkorat:	Lasit fáddágilkoriid Eai fáddágilkorat, Lasit vuosttaš fáddágilkora!

Geahča maid

Association of Tumor Necrosis Factor-α Gene Promotor Variant, Not Interleukin-10, with Febrile Seizures and Genetic Epilepsy with Febrile Seizure Plus
Dahkki: Jieun Choi, et al.
Almmustuhtton: (2019)

Complex Febrile Seizures in Children with COVID-19 Infection
Dahkki: Lia Kim, et al.
Almmustuhtton: (2023)

Case Report of Lethal Perinatal Hypophosphatasia with Seizure and Respiratory Failure Diagnosed by ALPL Gene Mutation
Dahkki: Seung Jae Lee, et al.
Almmustuhtton: (2020)

New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening
Dahkki: Chun-Kai Chen, et al.
Almmustuhtton: (2014)

Generalized Tonic-Clonic Seizures after Self-Limited Epilepsy with Centrotemporal Spikes: A Case Series
Dahkki: Hye Jin Kim, et al.
Almmustuhtton: (2022)

Idiopathic Median Mononeuropathy in a Previously Healthy Child: The Usefulness of Magnetic Resonance Imaging in Making the Diagnosis
Dahkki: Yong Eun, et al.
Almmustuhtton: (2019)

Experiences and responses of second victims of patient safety incidents in Korea: a qualitative study
Dahkki: Won Lee, et al.
Almmustuhtton: (2019)

Factitious Seizures and Limb Paralysis in Munchausen Syndrome
Dahkki: Jon Soo Kim, et al.
Almmustuhtton: (2020)

Production of CMAH Knockout Preimplantation Embryos Derived From Immortalized Porcine Cells Via TALE Nucleases
Dahkki: JoonHo Moon, et al.
Almmustuhtton: (2014)

Expanding the Clinical and Genetic Spectrum of Caveolinopathy in Korea
Dahkki: Seungbok Lee, et al.
Almmustuhtton: (2022)

Preimplantation Genetic Diagnosis in Marfan Syndrome
Dahkki: N. F. Vlahos, et al.
Almmustuhtton: (2013)

Prospective case control study of iron deficiency and the risk of febrile seizures in children in South Korea
Dahkki: Han Na Jang, et al.
Almmustuhtton: (2019)

Epidemiological investigation and physician awareness regarding the diagnosis and management of Q fever in South Korea, 2011 to 2017.
Dahkki: Yong Chan Kim, et al.
Almmustuhtton: (2021)

Recommendation for the use of newly introduced Tdap vaccine in Korea
Dahkki: Kyong Min Choi, et al.
Almmustuhtton: (2011)

Regional disparities in food security and depression among single-person households in the Republic of Korea
Dahkki: Seong-Ah Kim, et al.
Almmustuhtton: (2023)

Orolingual Tremor on Smiling
Dahkki: Sun Ah Choi, et al.
Almmustuhtton: (2020)

Recommendation for use of the newly introduced pneumococcal protein conjugate vaccines in Korea
Dahkki: Eun Hwa Choi, et al.
Almmustuhtton: (2011)

Occupational medicine training in Korea
Dahkki: Won-Jun Choi
Almmustuhtton: (2022)

Respiratory syncytial virus infection and the need for immunization in Korea
Dahkki: Hye Young Kim, et al.
Almmustuhtton: (2023)

Preimplantation genetic testing for aneuploidies screening is not diagnostic
Dahkki: David H. Barad, M.D
Almmustuhtton: (2022)

Preimplantation genetic testing for familial amyloid polyneuropathy
Dahkki: Mário Sousa
Almmustuhtton: (2022)

Preimplantation Genetic Screening: A Practical Guide
Dahkki: Paul R. Brezina, et al.
Almmustuhtton: (2013)

Preimplantation Genetic Screening: A Practical Guide
Dahkki: Paul R. Brezina, et al.
Almmustuhtton: (2013)

Development of multifocal nodular lesions of a liver mimicking hepatic metastasis, following resection of an insulinoma in a child
Dahkki: Sook Young Jung, et al.
Almmustuhtton: (2015)

Accuracy assessment of patient safety incident (PSI) codes and present-on-admission (POA) indicators: a cross-sectional analysis using the Patient Safety Incidents Inquiry (PSII) in Korea
Dahkki: Jeehee Pyo, et al.
Almmustuhtton: (2024)

Respiratory syncytial virus-associated seizures in Korean children, 2011-2016
Dahkki: Teahyen Cha, et al.
Almmustuhtton: (2019)

Successful birth of South India's first twins after preimplantation genetic screening of embryos
Dahkki: Priya Selvaraj, et al.
Almmustuhtton: (2016)

First report of a successful pregnancy by preimplantation genetic testing for Beckwith-Wiedemann syndrome
Dahkki: Ih-Jane Yang, et al.
Almmustuhtton: (2022)

A successful case of preimplantation genetic testing for monogenic disorder for aplasia cutis congenita
Dahkki: Xiu-Fang Yang, et al.
Almmustuhtton: (2022)

Effect of Intervention Programs for Improving Maternal Adaptation in Korea: Systematic Review
Dahkki: Hee Sun Kang, et al.
Almmustuhtton: (2013)

Annual Endovascular Thrombectomy Case Volume and Thrombectomy-capable Hospitals of Korea in Acute Stroke Care
Dahkki: Eun Hye Park, et al.
Almmustuhtton: (2023)

A Systematic Review on Oral Health Care Programs for the Elderly in Korea (2009∼2020)
Dahkki: Eun-Seo Choi, et al.
Almmustuhtton: (2021)

Ethical Propensity, Self-esteem, and Satisfaction of Dental Hy¬giene Students in South Korea
Dahkki: Yu-Ri CHOI, et al.
Almmustuhtton: (2016)

Prevalence, natural progression, and clinical practices of upper gastrointestinal subepithelial lesions in Korea: a multicenter study
Dahkki: Younghee Choe, et al.
Almmustuhtton: (2023)

Management of the first newborn delivered by a mother with COVID-19 in South Korea
Dahkki: Eun-Kyung Lee, et al.
Almmustuhtton: (2020)

Multifocal Polypoid Endometriosis Mimicking Malignancy in a Young Woman with a History of Hormonal Treatment
Dahkki: Ji-Young Kim, et al.
Almmustuhtton: (2015)

Predictors of Patient Satisfaction with Tertiary Hospitals in Korea
Dahkki: Hye-Sook Ham, et al.
Almmustuhtton: (2015)

Immunogenicity and safety of a split-virion quadrivalent influenza vaccine in adults 18-60 years of age in the Republic of Korea
Dahkki: Won Suk Choi, et al.
Almmustuhtton: (2018)

Clinical and Genetic Spectrum of Encephalopathy in the Korean Pediatric Population
Dahkki: Woo Joong Kim, et al.
Almmustuhtton: (2021)

Targeting myotonic dystrophy by preimplantation genetic diagnosis-karyomapping
Dahkki: Cheng-Wei Wang, et al.
Almmustuhtton: (2019)