نتائج البحث

Genotype-phenotype associations in microtia: a systematic review.

• Authors : Wahdini, Siti Isya¹ (AUTHOR); Idamatussilmi, Fina¹ (AUTHOR); Pramanasari, Rachmaniar² (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 4/9/2024, Vol. 19 Issue 1, p1-24. 24p.

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Genetic findings of Sanger and nanopore single-molecule sequencing in patients with X-linked hearing loss and incomplete partition type III.

• Authors : Chen, Ying^1,2,3 (AUTHOR); Qiu, Jiajun^1,2,3 (AUTHOR); Wu, Yingwei⁴ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 2/21/2022, Vol. 17 Issue 1, p1-9. 9p.

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Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.

• Authors : Sun, Fengying; Xiao, Minmin; Ji, Dong

Subjects: NEUROLOGICAL disorders; GENETIC testing; GENETIC counseling

• Source: Orphanet Journal of Rare Diseases; 6/6/2024, Vol. 19, p1-15, 15p

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Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents.

• Authors : Berry, Lisa; Walter, Jerry; Johnson, Jack

Subjects: ANGIOKERATOMA corporis diffusum; PATIENT experience; MEDICAL personnelCANADA

• Source: Orphanet Journal of Rare Diseases; 4/11/2024, Vol. 19 Issue 1, p1-12, 12p

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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.

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The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.

• Authors : Bosch, Annet M.¹ ; Stroek, Kevin¹; Abeling, Nico G.²

• Source: Orphanet Journal of Rare Diseases. 2012, Vol. 7 Issue 1, p83-89. 7p. 4 Charts, 1 Graph.

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ERN CRANIO patient coverage of craniosynostosis in Europe.

• Authors : Spivack, O.; Gaillard, L.; ERN CRANIO hospital representatives

Subjects: CRANIOSYNOSTOSES; PATIENTS' rights; RIGHT to health

• Source: Orphanet Journal of Rare Diseases; 9/2/2022, Vol. 17 Issue 1, p1-9, 9p

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Analysis of clinical audiological characteristics in children with Williams syndrome in China.

• Authors : Li, Fangfang¹ (AUTHOR); Xu, Bin² (AUTHOR); Shen, Jiyang¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 5/20/2025, Vol. 20 Issue 1, p1-11. 11p.

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The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.

• Authors : Engwerda, Aafke; Kerstjens-Frederikse, Wilhelmina S.; Corsten-Janssen, Nicole

Subjects: DYSPLASIA; AGENESIS of corpus callosum; SOCIAL media

• Source: Orphanet Journal of Rare Diseases; 3/19/2023, Vol. 18 Issue 1, p1-19, 19p

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Hearing problems in patients with hereditary gelsolin amyloidosis.

• Authors : Mustonen, Tuuli^1,2 (AUTHOR) ; Sivonen, Ville² (AUTHOR); Atula, Sari¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 10/24/2021, Vol. 16 Issue 1, p1-8. 8p.

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