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Human Molecular Genetics|August 11, 1999
ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation classV L Ruiz-Perez, S A Carter, E Healy, et al.Human Mutation|February 19, 2000
Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasiaA Taillandier, E Cozien, F Muller, et al.Journal of Molecular Medicine (Berlin, Germany)|August 23, 2000
Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticumB Struk, L Cai, S Zäch, et al.Journal of the European Academy of Dermatology and Venereology : JEADV|June 22, 2020
Genomic profiling of late-onset basal cell carcinomas from two brothers with nevoid basal cell carcinoma syndromeO Hasan Ali, A A Yurchenko, O Pavlova, et al.Annales De Genetique|July 18, 2002
French multi-centric study of 2000 amniotic fluid interphase FISH analyses from high-risk pregnancies and review of the literatureI Luquet, F Mugneret, P D Athis, et al.Journal of Molecular Medicine (Berlin, Germany)|April 12, 2000
A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structureL Cai, B Struk, M D Adams, et al.Human Genetics|September 12, 2000
Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13M Takahashi, E Rapley, P J Biggs, et al.Nicotine & Tobacco Research : Official Journal of the Society for Research on Nicotine and Tobacco|July 1, 2022
The Impact of the COVID-19 Pandemic on Tobacco Treatment Program Implementation at National Cancer Institute-Designated Cancer CentersSarah D Hohl, Kimberly A Shoenbill, Kathryn L Taylor, et al.Clinical Genetics|March 16, 2013
Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective studyN Marle, D Martinet, A Aboura, et al.The British Journal of Dermatology|June 14, 2018
Management of congenital ichthyoses: European guidelines of care, part twoJ Mazereeuw-Hautier, A Hernández-Martín, E A O'Toole, et al.Pageof 14