Search Results - "Baty, David" :: K.UTB vyhledávací portál

A Heterozygous Frameshift Mutation in the V1 Domain of Keratin 5 in a Family with Dowling–Degos Disease

by Liao, Haihui, Zhao, Yiwei, Baty, David U., McGrath, John A., Mellerio, Jemima E., Irwin McLean, W.H.
Published in Journal of investigative dermatology (01.02.2007)

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Epidermolysis Bullosa Simplex in Scotland Caused by a Spectrum of Keratin Mutations

by Rugg, Elizabeth L., Horn, Helen M., Smith, Frances J., Wilson, Neil J., Hill, Alison J.M., Magee, Gareth J., Shemanko, Carrie S., Baty, David U., Tidman, Michael J., Birgitte Lane, E.
Published in Journal of investigative dermatology (01.03.2007)

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Chromosomal changes in colorectal adenomas: Relationship to gene mutations and potential for clinical utility

by Leslie, Amy, Stewart, Arlene, Baty, David U., Mechan, Dorothy, McGreavey, Louise, Smith, Gillian, Wolf, C. Roland, Sales, Mark, Pratt, Norman R., Steele, Robert J. C., Carey, Francis A.
Published in Genes chromosomes & cancer (01.02.2006)

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Long-Range Polymerase Chain Reaction for Specific Full-Length Amplification of the Human Keratin 14 Gene and Novel Keratin 14 Mutations in Epidermolysis Bullosa Simplex Patients

by Wood, Pamela, Irwin McLean, W.H., Baty, David U., Birgitte Lane, E.
Published in Journal of investigative dermatology (01.03.2003)

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A technique for achieving prerestorative minor tooth movement with orthodontic separators

by Keesee, Stephen M., Baty, David L., Cameron, Stephen M., Lefler, Thomas B., Morris, W.Jack
Published in The Journal of prosthetic dentistry (01.11.2002)

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Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland

by Abbott, Michael, McKenzie, Lynda, Moran, Blanca Viridiana Guizar, Heidenreich, Sebastian, Hernández, Rodolfo, Hocking-Mennie, Lynne, Clark, Caroline, Gomes, Joana, Lampe, Anne, Baty, David, McGowan, Ruth, Miedzybrodzka, Zosia, Ryan, Mandy
Published in Journal of community genetics (01.10.2022)

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The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex

by Sathishkumar, Dharshini, Orrin, Elizabeth, Terron-Kwiatkowski, Ana, Browne, Fiona, Martinez, Anna E., Mellerio, Jemima E., Ogboli, Malobi, Hoey, Susannah, Ozoemena, Linda, Liu, Lu, Baty, David, McGrath, John A., Moss, Celia
Published in Journal of investigative dermatology (01.03.2016)

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Renal carcinoma with giant mitochondria associated with germ-line mutation and somatic loss of the succinate dehydrogenase B gene

by Housley, Sarah L, Lindsay, Robert S, Young, Barbara, McConachie, Michelle, Mechan, Dot, Baty, David, Christie, Lesley, Rahilly, Maeve, Qureshi, Khaver, Fleming, Stewart
Published in Histopathology (01.02.2010)

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