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Orphanet Journal of Rare Diseases|March 3, 2025
Genetic spectrum and genotype-phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic reviewMeihua Dong, Xu Shi, Yawen Zhou, et al.
Orphanet Journal of Rare Diseases|February 28, 2025
TTN:c.12478del in proximal I-band of titin represents a common molecular cause of dilated cardiomyopathy in Slovenian patientsNina Vodnjov, Andraž Cerar, Aleš Maver, et al.
Orphanet Journal of Rare Diseases|March 5, 2025
"My dream is to not have to be on a diet": a qualitative study on burdens of classical homocystinuria (HCU) from the patient perspectiveRobin Pokrzywinski, Danaé Bartke, Claudine Clucas, et al.
Orphanet Journal of Rare Diseases|February 14, 2025
The healthcare burden of pulmonary alveolar proteinosis (PAP)Elinor Lee, Ali Ataya, Cormac McCarthy, et al.
Orphanet Journal of Rare Diseases|February 25, 2025
How does overweight affect bone mineral density and oral health in adult hypophosphatasia?- A single center experienceFlorian Dudde, Dominik Fildebrandt, Karin Petz, et al.
Orphanet Journal of Rare Diseases|February 21, 2025
An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNASandrine Vuillaumier-Barrot, Thierry Dupré, Tiffany Andriantsihoarana, et al.
Orphanet Journal of Rare Diseases|February 11, 2025
The distribution of D4Z4 repeats in China and direct prenatal diagnosis of FSHD by optical genome mappingMengmeng Li, Na Hao, Jiazhen Chang, et al.
Orphanet Journal of Rare Diseases|February 11, 2025
The patient experience of CHAPLE disease: results from interviews conducted as part of a clinical trial for an ultra-rare conditionLeighann Litcher-Kelly, Ahmet Ozen, Sarah Ollis, et al.
Orphanet Journal of Rare Diseases|February 8, 2025
Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse modelShunan Wang, Ming Shen, Bo Pang, et al.
Orphanet Journal of Rare Diseases|August 2, 2024
Demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases: a retrospective cross-sectional studyXutong Zhao, Meng Yu, Wei Zhang, et al.
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