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Orphanet Journal of Rare Diseases|July 7, 2019
Genomic imbalances defining novel intellectual disability associated lociFátima Lopes, Fátima Torres, Gabriela Soares, et al.
Orphanet Journal of Rare Diseases|June 2, 2019
Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum DisorderJulie Masson, Caroline Demily, Nicolas Chatron, et al.
Orphanet Journal of Rare Diseases|July 11, 2019
Development of a pilot rare disease registry: a focus group study of initial steps towards the establishment of a rare disease ecosystem in SloveniaDalibor Stanimirovic, Eva Murko, Tadej Battelino, et al.
Orphanet Journal of Rare Diseases|February 20, 2022
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disordersMaría Isabel Álvarez-Mora, Aurora Sánchez, Laia Rodríguez-Revenga, et al.
Orphanet Journal of Rare Diseases|February 20, 2022
Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and familiesIndraneel Banerjee, Julie Raskin, Jean-Baptiste Arnoux, et al.
Orphanet Journal of Rare Diseases|February 22, 2022
Natural history of respiratory muscle strength in spinal muscular atrophy: a prospective national cohort studyEsther S Veldhoen, Camiel A Wijngaarde, Erik H J Hulzebos, et al.
Orphanet Journal of Rare Diseases|February 1, 2022
Potential influences on optimizing long-term musculoskeletal health in children and adolescents with X-linked hypophosphatemia (XLH)Francis H Glorieux, Lynda F Bonewald, Nicholas C Harvey, et al.
Orphanet Journal of Rare Diseases|February 1, 2022
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspectsAnnabelle Arlt, Nicolai Kohlschmidt, Andreas Hentschel, et al.
Orphanet Journal of Rare Diseases|February 3, 2022
Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE studyClaudia Mighiu, Sonia O'Hara, Enrico Ferri Grazzi, et al.
Orphanet Journal of Rare Diseases|February 3, 2022
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialistsSilvia Kalantari, Brigida Brezzi, Valeria Bracciamà, et al.
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