Publications by authors named "Yongjin Yoo"

12Publications

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation.

Mol Genet Genomic Med 2019 03 19;7(3):e532. Epub 2018 Dec 19.

Department of Rehabilitation Medicine, Pusan National University School of Medicine and Biomedical Research Institute, Pusan National University Hospital, Busan, Korea.

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http://doi.wiley.com/10.1002/mgg3.532
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http://dx.doi.org/10.1002/mgg3.532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418348PMC
March 2019

Genomic analysis of synchronous intracranial meningiomas with different histological grades.

J Neurooncol 2018 May 8;138(1):41-48. Epub 2018 Feb 8.

Department of Neurosurgery, Seoul National University College of Medicine, Seoul National University Hospital, 103 Daehak-ro (Yeongeon-dong), Jongno-gu, Seoul, South Korea.

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http://dx.doi.org/10.1007/s11060-018-2772-1DOI Listing
May 2018

Reply to "a novel mutation in the transmembrane 6 domain of GABBR2 leads to a rett-like phenotype".

Ann Neurol 2018 02;83(2):439

Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.

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http://dx.doi.org/10.1002/ana.25154DOI Listing
February 2018

Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

J Child Neurol 2017 02 24;32(2):237-242. Epub 2016 Oct 24.

3 Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1177/0883073816674095DOI Listing
February 2017

GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.

Am J Med Genet A 2016 08 27;170(8):2200-5. Epub 2016 May 27.

Department of Pediatrics, Seoul National University College of Medicine, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea.

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http://dx.doi.org/10.1002/ajmg.a.37773DOI Listing
August 2016

Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.

J Hum Genet 2015 Apr 22;60(4):213-5. Epub 2015 Jan 22.

Department of Rehabilitative Medicine, Pusan National University Hospital, Pusan National University School of Medicine, Pusan, Korea.

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http://dx.doi.org/10.1038/jhg.2015.2DOI Listing
April 2015