نتائج البحث

New diagnostic criteria for metopic ridges and trigonocephaly: a 3D geometric approach.

• Authors : Bloch, Kevin^1,2 (AUTHOR); Geoffroy, Maya^2,3 (AUTHOR); Taverne, Maxime³ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 5/18/2024, Vol. 19 Issue 1, p1-12. 12p.

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New diagnostic criteria for metopic ridges and trigonocephaly: a 3D geometric approach

• Authors : Kevin Bloch; Maya Geoffroy; Maxime Taverne

Subjects: Craniosynostosis; Morphometry; Diagnostic tool

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

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Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines

• Authors : M. M. Hitzert; S. N. van der Crabben; G. Baldewsingh

Subjects: Mandibuloacral dysplasia with type B lipodystrophy; ZMPSTE24 gene; Suriname

• Source: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)

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Clinical and genetic characteristics of 100 consecutive patients with Birt-Hogg-Dubé syndrome in Eastern Chinese region.

• Authors : Hu, Daiju¹ (AUTHOR); Wang, Rui^1,2 (AUTHOR); Liu, Jinli³ (AUTHOR)

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

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Clinical and genetic characteristics of 100 consecutive patients with Birt-Hogg-Dubé syndrome in Eastern Chinese region

• Authors : Daiju Hu; Rui Wang; Jinli Liu

Subjects: Birt-Hogg-Dubé syndrome; FLCN mutation; Diagnostic criteria

• Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)

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Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines.

• Authors : Hitzert, M. M.¹ (AUTHOR) ; van der Crabben, S. N.² (AUTHOR); Baldewsingh, G.³ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 12/19/2019, Vol. 14 Issue 1, p1-9. 9p.

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Review of Dercum’s disease and proposal of diagnostic criteria, diagnostic methods, classification and management

• Authors : Hansson Emma; Svensson Henry; Brorson Håkan

Subjects: Dercum’s disease; Adiposis dolorosa; Adiposalgia

• Source: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 23 (2012)

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Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI.

• Source: Orphanet Journal of Rare Diseases. 2012, Vol. 7 Issue 1, p4-17. 14p. 2 Color Photographs, 5 Black and White Photographs, 4 Charts.

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Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

• Authors : Poretti Andrea; Vitiello Giuseppina; Hennekam Raoul CM

Subjects: Joubert syndrome and related disorders; Oral-facial-digital syndrome type VI; neuroimaging

• Source: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 4 (2012)

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An update on choroidal abnormalities and retinal microvascular changes in neurofibromatosis type 1

• Authors : Fabiana Mallone; Luca Lucchino; Sandra Giustini

Subjects: Choroidal abnormalities (CAs); Neurofibromatosis type 1 (NF1); Diagnostic criteria

• Source: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-4 (2022)

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