نتائج البحث

Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity.

• Authors : Faviez, Carole^1,2 (AUTHOR) ; Vincent, Marc³ (AUTHOR); Garcelon, Nicolas^1,2,3 (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 2/10/2024, p1-12. 12p.

تفاصيل العنوان

Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity

• Authors : Carole Faviez; Marc Vincent; Nicolas Garcelon

Subjects: Diagnosis support; Electronic health record; Supervised machine learning

• Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)

تفاصيل العنوان

A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report

• Authors : Marina Macchiaiolo; Filippo M. Panfili; Davide Vecchio

Subjects: Malan syndrome; Sotos syndrome 2; NFIX

• Source: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-16 (2022)

تفاصيل العنوان

A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.

• Authors : Macchiaiolo, Marina¹ (AUTHOR) ; Panfili, Filippo M.^2,3 (AUTHOR); Vecchio, Davide¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 6/18/2022, Vol. 17 Issue 1, p1-16. 16p.

تفاصيل العنوان

In-depth phenotyping for clinical stratification of Gaucher disease.

• Authors : D'Amore, Simona¹ (AUTHOR); Page, Kathleen¹ (AUTHOR); Donald, Aimée^1,2,3 (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 10/14/2021, Vol. 16 Issue 1, p1-22. 22p.

تفاصيل العنوان

In-depth phenotyping for clinical stratification of Gaucher disease

• Authors : Simona D’Amore; Kathleen Page; Aimée Donald

Subjects: Gaucher disease; Cohort; GAUCHERITE

• Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-22 (2021)

تفاصيل العنوان