Researchposted Jun 02, 2020
Hearing loss as a newly recognized symptom of GSD type I. A clinical report of four unrelated Polish patients.
Katarzyna Iwanicka-Pronicka, Joanna Trubicka, Maciej Pronicki, Edyta Szymanska, Elżbieta Ciara, Dariusz Rokicki, Saskia Wortmann
Under Review
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Researchposted May 29, 2020
Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes
Hana Pavlu-Pereira, Maria João Silva, Cristina Florindo, Sílvia Sequeira, Ana Cristina Ferreira, Sofia Duarte, Ana Luísa Rodrigues, and 10 more authors
Under Review
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Researchposted May 29, 2020
Clinical Experience with the AKT1 Inhibitor Miransertib in two Children with PIK3CA-related overgrowth syndrome
Karina Forde, Nicoletta Resta, Carlotta Ranieri, David Rea, Olga Kubassova, Mark Hinton, Alan D Irvine, and 1 more authors
Under Review
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Researchupdated May 27, 2020
Factors associated with refractory autoimmune necrotizing myopathy with anti-signal recognition particle antibodies
Yawen Zhao, Wei Zhang, Yilin Liu, Zhaoxia Wang, Yun Yuan
Under Review
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Researchupdated May 27, 2020
Clinical and molecular spectrum of 46, XY disorders of sex development that harbour MAMLD1 variations: Case series and review of literature
Li Lele, Lijun Fan, Fenqi Gao, Di Wu, Chunxiu Gong
Under Review
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Researchposted May 22, 2020
Myopia-26, the female-limited form of early-onset high myopia is associated with retinal ganglion cell dysfunction and primary open angle glaucoma
Noémi Széll, Tamas Feher, Zoltán Maróti, Tibor Kalmár, Dóra Latinovics, István Nagy, Zsuzsanna Z. Orosz, and 3 more authors
Under Review
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Researchupdated May 21, 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
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Researchupdated May 21, 2020
Improved health-related quality of life in patients treated with topical sirolimus for facial angiofibroma associated with tuberous sclerosis complex.
Takashi Hatano, Yuki ohno, YU Imai, Jun Moritake, Katsuhisa Endo, Mayumi Tamari, Shin Egawa
Under Review
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Researchupdated May 20, 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
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Researchposted May 20, 2020
Design, Development And Deployment Of A Web-Based Interoperable Registry For Inherited Retinal Dystrophies In Portugal – The Ird-Pt
João Pedro Marques, Ana Luísa Carvalho, José Henriques, Joaquim Neto Murta, Jorge Saraiva, Rufino Silva
Under Review
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