CrossRef Text and Data Mining
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First Successful Application of Preimplantation Genetic Diagnosis for Lethal Neonatal Rigidity and Multifocal Seizure Syndrome in Korea: A Case Report
Gyeong Eun Yeom, Young Hwa Jung, Soo Yeon Kim, Sun Ah Choi, Hunmin Kim, Chang Won Choi
Neonatal Med. 2022;29(4):141-148.   Published online November 30, 2022
DOI: https://doi.org/10.5385/nm.2022.29.4.141

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First Successful Application of Preimplantation Genetic Diagnosis for Lethal Neonatal Rigidity and Multifocal Seizure Syndrome in Korea: A Case Report
Neonatal Medicine. 2022;29(4):141-148   Crossref logo
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A BRAT1 synonymous mutation affecting exon splicing leads to lethal neonatal rigidity and multifocal seizure syndrome: A Chinese case report.
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Lethal neonatal rigidity and multifocal seizure syndrome with a new mutation in BRAT1
Epilepsy & Behavior Case Reports. 2017;8:31-32   Crossref logo
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Lethal Neonatal Rigidity and Multifocal Seizure Syndrome—A Misnamed Disorder?
Pediatric Neurology. 2015;53(6):535-540   Crossref logo
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Case report: first successful application of preimplantation genetic diagnosis for hereditary angiooedema
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Epilepsy of infancy with migrating focal seizures or rigidity and multifocal seizure syndrome, lethal neonatal? Different emphases on a severe phenotype
Developmental Medicine & Child Neurology. 2019;62(9):1012-1012   Crossref logo
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Lethal neonatal rigidity and multifocal seizure syndrome – Report of another family with a BRAT1 mutation
European Journal of Paediatric Neurology. 2015;19(2):240-242   Crossref logo
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Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome
Pediatric Research. 2021;91(3):565-571   Crossref logo
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First Report of Preimplantation Genetic Diagnosis for Steroid-Resistant Nephrotic Syndrome
Journal of Human Genetics and Genomics. 2020;3(1):   Crossref logo
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Preimplantation genetic diagnosis for infertility (preimplantation genetic screening)
Preimplantation Genetic Diagnosis. 2009;203-229   Crossref logo
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