Preprints under consideration at undefined.
Learn more about In Review
Researchposted Feb 26, 2020
Cathepsin-C (CTSC) Gene Mutations in Papillon-Lefevre Syndrome in India.
Suyamindra Kulkarni, Prabhanjan P Gai, Gouri Anehosur, Pramod Gai
Under Review
at
Researchposted Feb 25, 2020
Bone Mineral Density and Bone Microarchitecture in a Cohort of Patients with Erdheim-Chester Disease
Tianhua He, Lijia Cui, Na Niu, Fengdan Wang, Huilei Miao, Hao Zhao, Xuemin Gao, and 10 more authors
Under Review
at
Researchposted Feb 25, 2020
Exome sequencing for diagnosis of congenital hemolytic anemia
Lamisse Mansour-Hendili, Abdelrazak Aissat, Bouchra Badaoui, Mehdi Sakka, Christine Gameiro, Valérie Ortonne, Orianne Wagner-Ballon, and 14 more authors
Under Review
at
Researchposted Feb 19, 2020
The expression of BAFF in the muscles correlate with refractory autoimmune necrotizing myopathy with anti-signal recognition particle antibodies
Yawen Zhao, Wei Zhang, Yilin Liu, Zhaoxia Wang, Yun Yuan
Under Review
at
Researchposted Feb 18, 2020
Best practice guidelines for management of spinal disorders in skeletal dysplasia
Klane White, Michael B Bober, Tae-Joon Cho, Michael J Goldberg, Julie Hoover-Fong, Melita Irving, Shawn Kamps, and 5 more authors
Under Review
at
Researchupdated Feb 18, 2020
Identification of Four Novel Mutations in Chilean Patients with Various Forms of Maple Syrup Urine Disease
Diana Ruffato Resende Campanholi, Ana Vitoria Barban Margutti, Wilson Araújo Silva Jr, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Ida Vanessa Döederlein Schwartz, and 5 more authors
Under Revision
at
Researchposted Feb 18, 2020
Sickle cell disease in Sri Lanka: Clinical and molecular basis and the unanswered questions about disease severeity.
Thamal Darshana, Dayananda Bandara, Upul Nawarathne, Udaya de Silva, Yasinta Costa, Kalavitigoda Pushpakumara, Sumithra Pathirage, and 12 more authors
Under Review
at
Researchupdated Feb 18, 2020
A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China
Lina Wu, Yanmeng Li, Yi Song, Donghu Zhou, Siyu Jia, Anjian Xu, Wei Zhang, and 4 more authors
Under Revision
at
Researchposted Feb 17, 2020
The dynamic mutation investigation and whole exome sequencing in a cohort of Chinese autosomal dominant cerebellar ataxia patients
Fang Peng, Yue Zhang, Xin-Yue Zhou, Shuai-Qi Huang, Chen Chen, Zheng-Tong Ding, Jian Wang, and 2 more authors
Under Review
at
Researchupdated Feb 17, 2020
Dried blood spot versus venous blood sampling for phenylalanine and tyrosine
Kimber van Vliet, Wiggert G. van Ginkel, Esther van Dam, Pim de Blaauw, Martijn Koehorst, Hermi A. Kingma, Francjan J. van Spronsen, and 1 more authors
Under Revision
at