Preprints under consideration at Orphanet Journal of Rare Disease.
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Researchposted Jan 16, 2020
Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida
Saradadevi Thanikachalam, Elizabeth Hodapp, Ta C. Chang, Dayna Morel Swols, Filiz B. Cengiz, Shengru Guo, Mohammad F. Zafeer, and 5 more authors
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Researchposted Jan 15, 2020
Clinical and whole-exome sequencing findings in Individuals from Yunnan Province with Familial Exudative Vitreoretinopathy
Zhen Zhang, Yi-shuang Xiao, Hong-chao Jiang, Ru Sheng, Li Tang, XIAO-Hong Yang, Huai-yu Gu, and 2 more authors
Under Review
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Researchposted Jan 15, 2020
Sustaining benefits of nutritional therapy in young adults with Phenylketonuria - A 2 year Prospective Study
Johannes Krämer
Under Review
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Researchupdated Jan 14, 2020
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: One disease- many faces
Sarah Catharina Grünert, Jörn Oliver Sass
Under Review
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Researchupdated Jan 13, 2020
LipoDDx: a mobile application for identification of rare lipodystrophy syndromes
David Araujo-Vilar, Antia Fernández-Pombo, Gemma Rodríguez-Carnero, Miguel Angel Martínez-Olmos, Ana Cantón, Rocio Villar-Taibo, Alvaro Hermida-Ameijeiras, and 8 more authors
Under Review
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Researchposted Jan 10, 2020
Improvement in functional gait parameters following corrective thoracolumbar surgery in children affected by Mucopolysaccharidosis 1(Hurler syndrome)
Rajkumar Sundarapandian, Simon Jones, Alexander Broomfield, Pauline Hensman, Neil Oxborrow
Under Review
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Researchposted Jan 10, 2020
Remarkable Superficial Siderosis and Microbleed Restricted in Cortex might be Responsible for Atrophy and Cognitive Decline in Sneddon’s Syndrome
Ming YAO, Jiuliang Zhao, Nan Jiang, Libo Li, Jun Ni
Under Review
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Researchposted Jan 07, 2020
Modelling Morquio A syndrome: an anthropometric study of body characteristics and stature
Agnieszka Różdżyńska-Świątkowska, Krzysztof Szklanny, Jolanta Marucha, Anna Tylki-Szymańska
Under Review
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Researchposted Jan 07, 2020
Case-control study about the acceptance of Pegvaliase in Phenylketonuria
Johannes Krämer
Under Review
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Researchposted Jan 07, 2020
Multimodal Imaging and Genetic Characteristics of Chinese Patients with USH2A-Associated Nonsyndromic Retinitis Pigmentosa
Chong Chen, Qiao Sun, Mingmin Gu, Tianwei Qian, Dawei Luo, Kun Liu, Xun Xu, and 1 more authors
Under Review
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