檢索結果 - Debra Lomas
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Does the gene matter? Genotype–phenotype and genotype–outcome associations in congenital melanocytic naevi 由 Satyamaanasa Polubothu, Nancy McGuire, Lara Al-Olabi, William Baird, Neil Bulstrode, Jane Chalker, Dragana Josifova, Debra Lomas, Justine O’Hara, Juling Ong, Dyanne Rampling, Paulina Stadnik, Anna Thomas, E. Wedgeworth, Neil J. Sebire, Veronica A. Kinsler
出版 2019Artigo -
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GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11 Mosaicism and the Associated Clinical Diagnoses 由 Satyamaanasa Polubothu, Lara Al-Olabi, M.C. Boente, Alisha Chacko, Georgios Eleftheriou, Mary Glover, D. Jiménez‐Gallo, Elizabeth A. Jones, Debra Lomas, Regina Fölster‐Holst, Samira Syed, Monika Tasani, Anna Thomas, Martin Tisdall, Antonio Torrelo, Sarah Aylett, Veronica A. Kinsler
出版 2019Carta
相關主題
Medicine
Biology
Dermatology
Gene
Genetics
Mutation
Phenotype
Allele
Broad spectrum
Cancer research
Chemistry
Clinical phenotype
Combinatorial chemistry
Congenital melanocytic nevus
GNAQ
Genotype
Genotype-phenotype distinction
Genotyping
Incidence (geometry)
KRAS
Melanocytic nevus
Melanoma
Neuroblastoma RAS viral oncogene homolog
Nevus
Optics
Pathology
Physics
Sturge–Weber syndrome