Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases LETTER TO THE EDITOR Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population Jong Eun Park, Seung-Jae Noh, Mijin Oh, Dae-Yeon Cho, So Young Kim and Chang-Seok Ki Orphanet Journal of Rare Diseases 2018, 13:40 | Published on: 15 March 2018 Full Text | PDF RESEARCH Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype Adel Shalata, Mohammad Mahroom, Dianna M. Milewicz, Gong Limin, Fadi Kassum, Khader Badarna, Nader Tarabeih, Nimmer Assy, Rona Fell, Hector Cohen, Munir Nashashibi, Alejandro Livoff, Muhammad Azab, George Habib, Dan Geiger, Omer Weissbrod… Orphanet Journal of Rare Diseases 2018, 13:41 | Published on: 15 March 2018 Full Text | PDF

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