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Orphanet Journal of Rare Diseases|August 24, 2019
Segmental schwannomatosis: characteristics in 12 patientsAbdulqader Alaidarous, Beatrice Parfait, Salah Ferkal, et al.
Orphanet Journal of Rare Diseases|August 11, 2019
Natural history of patients with venous thromboembolism and hereditary hemorrhagic telangiectasia. Findings from the RIETE registryAntoni Riera-Mestre, José María Mora-Luján, Javier Trujillo-Santos, et al.
Orphanet Journal of Rare Diseases|January 23, 2021
Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment statusChiara Leoni, Domenico Marco Romeo, Michele Pelliccioni, et al.
Orphanet Journal of Rare Diseases|January 31, 2021
Initial predictors for short-term prognosis in anti-melanoma differentiation-associated protein-5 positive patientsQihua Yang, Tianfang Li, Xin Zhang, et al.
Orphanet Journal of Rare Diseases|January 31, 2021
High clinical heterogeneity in a Chinese pedigree of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S)Nina Xie, Qiying Sun, Jinxia Yang, et al.
Orphanet Journal of Rare Diseases|January 31, 2021
Using pre-existing social networks to determine the burden of disease and real-life needs in rare diseases: the example of Thygeson's superficial punctate keratitisRana Saad, Sami Saad, Oscar Haigh, et al.
Orphanet Journal of Rare Diseases|January 19, 2021
Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature reviewZahraa Chayed, Lone Krøldrup Kristensen, Lilian Bomme Ousager, et al.
Orphanet Journal of Rare Diseases|January 22, 2021
Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathwaysAyelet Vardi, Amir Pri-Or, Noa Wigoda, et al.
Orphanet Journal of Rare Diseases|January 22, 2021
What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases?Jeanette Erdmann
Orphanet Journal of Rare Diseases|January 15, 2021
Long-term experience with triheptanoin in 12 Austrian patients with long-chain fatty acid oxidation disordersThomas Zöggeler, Katharina Stock, Monika Jörg-Streller, et al.
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