Search Results

Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.

• Authors : Hideki Mutai¹ ; Naohiro Suzuki¹ ; Atsushi Shimizu²

• Source: Orphanet Journal of Rare Diseases. 2013, Vol. 8 Issue 1, p1-23. 23p.

Record details

Short developmental milestone risk assessment tool to identify Duchenne muscular dystrophy in primary care

• Authors : Paula van Dommelen; Oisín van Dijk; Jeroen A. de Wilde

Subjects: Pediatrics; neuromuscular disorder; Child Development

• Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)

Record details

The natural history of Canavan disease: 23 new cases and comparison with patients from literature

• Authors : Annette Bley; Jonas Denecke; Alfried Kohlschütter

Subjects: Leukodystrophy; Early childhood neurodegeneration; Aspartoacylase deficiency

• Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

Record details

Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy

• Authors : Michalis Georgiou; Elizabeth Yang; Naser Ali

Subjects: 0301 basic medicine; RPGR; Leber congenital amaurosis

• Source: Orphanet J Rare DisOrphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)

Record details

Unraveling the molecular landscape of congenital pseudoarthrosis of the tibia: insights from a comprehensive analysis of 159 probands.

• Authors : Wang, Rui¹ (AUTHOR); Zheng, Yu² (AUTHOR); Yang, Ge^3,4,5,6 (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 6/3/2025, Vol. 20 Issue 1, p1-11. 11p.

Record details

Distinct features of three clinical subtypes in 533 patients with primary hypertrophic osteoarthropathy.

• Authors : Cai, Xilei¹ (AUTHOR); Yang, Xiujuan¹ (AUTHOR); Zhang, Pengyue^1,2 (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 4/18/2025, Vol. 20 Issue 1, p1-12. 12p.

Record details

Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review.

• Authors : Kaiser, Nadja¹ (AUTHOR); Magg, Janine¹ (AUTHOR) ; Nägele, Thomas² (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 3/20/2025, Vol. 20 Issue 1, p1-9. 9p.

Record details

Caregiver's experiences with a mobile-based educational program and its impact on dietary treatment compliance of children with methylmalonic acidemia: an online survey.

• Authors : Luo, Qing¹ (AUTHOR); Liu, Chunqin¹ (AUTHOR); Lin, Lizhou² (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 1/19/2025, Vol. 20 Issue 1, p1-10. 10p.

Record details

PHARC syndrome: an overview.

• Authors : Harutyunyan, Lusine^1,2,3 (AUTHOR); Callaerts, Patrick¹ (AUTHOR); Vermeer, Sascha² (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 12/24/2024, Vol. 19 Issue 1, p1-18. 18p.

Record details

Whole-body MRI-based long-term evaluation of pediatric NF1 patients without initial tumor burden with evidence of newly developed peripheral nerve sheath tumors.

• Authors : Schmalhofer, Marie-Lena¹ (AUTHOR) ; Farschtschi, Said² (AUTHOR); Kluwe, Lan² (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 11/4/2024, Vol. 19 Issue 1, p1-8. 8p.

Record details