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21 results
  1. Cleft Lip and Palate 
    https://medlineplus.gov/cleftlipandpalate.html
    ... palate syndrome: MedlinePlus Genetics (National Library of Medicine) Focal dermal hypoplasia: MedlinePlus Genetics (National Library of Medicine) Opitz G/ ...
  2. Childhood Vascular Tumors Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK343452
    ... cobimetinib in the treatment of children and adults. References Mulliken JB, Glowacki J: Hemangiomas and vascular malformations ... the same entity and will be discussed together. References Léauté-Labrèze C, Hoeger P, Mazereeuw-Hautier J, ...
  3. Junctional Epidermolysis Bullosa - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1125
    ... other two proteins will usually also be affected. References Literature Cited Almaani N, Liu L, Dopping-Hepenstal ...
  4. Isolated and Classic Cutis Marmorata Telangiectatica Congenita - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK581081
    ... posted live 19 July 2021 (mp) Original submission References Literature Cited Abumansour IS, Hijazi H, Alazmi A, ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  5. Epidermolysis Bullosa with Pyloric Atresia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1157
    ... posted live 10 May 2007 (egp) Original submission References Literature Cited Azarian M, Dreux S, Vuillard E, ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  6. PIK3CA-Related Overgrowth Spectrum - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK153722
    ... posted live 11 March 2013 (gm) Original submission References Literature Cited Adams DM, Ricci KW. Vascular anomalies: ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  7. SLC25A24 Fontaine Progeroid Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK581082
    ... posted live 1 March 2022 (dv) Original submission References Literature Cited Adolphs N, Klein M, Haberl EJ, ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  8. Phelan-McDermid Syndrome-SHANK3 Related - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1198
    ... posted live 22 November 2004 (kp) Original submission References Literature Cited Anderlid BM, Schoumans J, Anneren G, ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  9. Nonsyndromic Tooth Agenesis Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK572295
    ... posted live 2 October 2020 (al) Original submission References Literature Cited Adorno-Farias D, Ortega-Pinto A, ... Proband Management Genetic Risk Assessment Resources Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  10. Excluded Studies - Diagnosis and Management of Infantile Hemangioma - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK344066
    ... T, et al. Transcerebellomedullary fissure approach with special reference to methods of dissecting the fissure. J Neurosurg. ... clinicopathological study of 43 cases with a special reference to immunohistochemical characterization of the vascular elements. Pathol ...
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