PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Annals of Child Neurology10.26815/acn.2022.00136202230395-101Expanding the Clinical and Genetic Spectrum of Caveolinopathy in KoreaSeungbok Lee, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Jong Hee Chae, Anna Chohttp://annchildneurol.org/upload/pdf/acn-2022-00136.pdf, http://annchildneurol.org/journal/view.php?doi=10.26815/acn.2022.00136, http://annchildneurol.org/upload/pdf/acn-2022-00136.pdf
Neurology Bulletin10.17816/nb797962001XXXIII1-2115-116The expanding clinical and genetic spectrum of the myotonic dystrophiesK. Rickerhttps://journals.eco-vector.com/1027-4898/article/viewFile/79796/60381, https://journals.eco-vector.com/1027-4898/article/viewFile/79796/60381
Seminars in Pediatric Neurology10.1016/j.spen.2016.06.0022016232134-142The Expanding Clinical Spectrum of Genetic Pediatric Epileptic EncephalopathiesRolla Shbarou, Mohamad A. Mikatihttps://api.elsevier.com/content/article/PII:S1071909116300080?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S1071909116300080?httpAccept=text/plain
Brain10.1093/brain/awaa23020201439e77-e77Reply: Expanding the clinical and genetic spectrum of PCYT2-related disordersFrédéric M Vaz, John H McDermott, Marc Engelen, Siddharth Bankahttps://academic.oup.com/brain/article-pdf/143/9/e77/43971096/awaa230.pdf, https://academic.oup.com/brain/article-pdf/143/9/e77/43971096/awaa230.pdf
Movement Disorders10.1002/mds.266462016317936-936Expanding the genetic spectrum of paroxysmal dyskinesiasRoberto Errohttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmds.26646, https://onlinelibrary.wiley.com/doi/full/10.1002/mds.26646
10.21203/rs.3.rs-163113/v12021Expanding The Clinical Phenotype and Genetic Spectrum of PURA-Related Neurodevelopmental DisordersSun Ah Choi, Heun-Sik Lee, Tae-Joon Park, Soojin Park, Young Jun Ko, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chaehttps://www.researchsquare.com/article/rs-163113/v1, https://www.researchsquare.com/article/rs-163113/v1.html
Clinical Endocrinology10.1111/cen.140782019915683-690Expanding the spectrum of genetic variants in the calcium‐sensing receptor ( CASR ) gene in hypercalcemic individualsPeter H. Nissen, Lars Rejnmarkhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcen.14078, https://onlinelibrary.wiley.com/doi/pdf/10.1111/cen.14078, https://onlinelibrary.wiley.com/doi/full-xml/10.1111/cen.14078, https://onlinelibrary.wiley.com/doi/pdf/10.1111/cen.14078
Muscle & Nerve10.1002/mus.260932018583381-388Collagen VI-related myopathy: Expanding the clinical and genetic spectrumSoo Yeon Kim, Woo Joong Kim, Hyuna Kim, Sun Ah Choi, Jin Sook Lee, Anna Cho, Se Song Jang, Byung Chan Lim, Ki Joong Kim, Jong-Il Kim, Si Houn Hahn, Jong-Hee Chaehttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmus.26093, http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.26093/fullpdf
Pigment Cell & Melanoma Research10.1111/j.1755-148x.2008.00490.x2008215507-508Expanding the genetic spectrum of pigmentationBoris C. Bastian, Daniel Pinkelhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1755-148X.2008.00490.x, http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1755-148X.2008.00490.x/fullpdf
Hormone Research in Paediatrics10.1159/000110468200768Suppl. 524-27Expanding the Genetic Spectrum of Noonan SyndromeKees Noordamhttps://www.karger.com/Article/Pdf/110468, https://www.karger.com/Article/Pdf/110468