Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Melissa Sloman"'
Autor:
Evangeline Wassemer, Katharine Foster, George Elley, Melissa Sloman, Ataf Sabir, Derek Lim, Ananya Singh
Publikováno v:
Clinical Dysmorphology. 30:115-119
Autor:
Alan Fryer, Rolph Pfundt, Lori A. Carpenter, Susan M. White, Kirsten P. Forbes, Daniela T. Pilz, Nava Shaul-Lotan, Andrew E. Fry, Anthonie J. van Essen, Amy E. Roberts, A. Micheil Innes, Katherine A. Fawcett, Beatriz Paumard-Hernández, Michael Wright, Peter D. Turnpenny, Blanca Gener, Richard Caswell, Lindsay B. Henderson, Romana Gjergja-Juraski, Melissa Sloman, Wendy K. Chung, Karen E. Heath, G. Bradley Schaefer, Heather M. McLaughlin, Erica H. Gerkes
Publikováno v:
American Journal of Human Genetics, 103(5), 786-793. CELL PRESS
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics, 103, 786-793
American Journal of Human Genetics, 103, 5, pp. 786-793
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics, 103, 786-793
American Journal of Human Genetics, 103, 5, pp. 786-793
PCGF2 encodes the polycomb group ring finger 2 protein, a transcriptional repressor involved in cell proliferation, differentiation, and embryogenesis. PCGF2 is a component of the polycomb repressive complex 1 (PRC1), a multiprotein complex which con
Autor:
Melissa Sloman, Rebecca Brown, Fadil Hannan, Mezquita Kirsty Mills de, Mie K Olesen, Rajesh Thakker
Publikováno v:
Endocrine Abstracts.
Autor:
Nicki-Jayne Russell, Andreas Tridimas, Katarzyna Goljanek-Whysall, Fadil M. Hannan, Rachel McCormick, Melissa Sloman, William D. Fraser, Alan Sorani
Publikováno v:
Bone
Adults presenting with sporadic hypophosphatemia and elevations in circulating fibroblast growth factor-23 (FGF23) concentrations are usually investigated for an acquired disorder of FGF23 excess such as tumor induced osteomalacia (TIO). However, in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b06efd1f5ae9806b870121ccb56765b4
http://livrepository.liverpool.ac.uk/3010372/1/BONE-D-17-00456_Manuscript.docx
http://livrepository.liverpool.ac.uk/3010372/1/BONE-D-17-00456_Manuscript.docx
Autor:
Prajnya Ranganath, Melissa Sloman, Vijay Raju Boggula, Rajendra V. Phadke, Peter D. Turnpenny, Divya Gupta, Shubha R. Phadke
Publikováno v:
American Journal of Medical Genetics Part A. :3065-3070
We report on two brothers (born to nonconsanguineous parents) with short stature, hypospadias, scoliosis, vertebral segmentation defects of "spondylocostal dysostosis" type, and intellectual disability. Results of cytogenetic and molecular genetic te
Autor:
Malachi McKenna, Sinead Kinsella, Michelle Morrin, Melissa Sloman, Ahad Abdalla, Myra O'Keane, Barbara Murray, John Holian, Alan Watson, Mark Kilbane
Publikováno v:
Endocrine Abstracts.
Autor:
Jane E. Brumbaugh, Michael L. Baker, Jennifer A. Wambach, Nicolas Chassaing, Katayoun Afshar, Deborah Schady, David Mowat, Lawrence S. Prince, Marie T. McDonald, F. Sessions Cole, Kathleen Gibson, Romana Gerychová, Iris Silva, Merrissa Whitt, John B. Cahill, Daniel T. Swarr, Pawel Stankiewicz, Lananh Nguyen, Luk Ho-ming, Thierry Detaille, Csaba Galambos, Yaping Yang, Lakshmi Srinivasan, Harry P.W. Kozakewich, Catherine Barrea, Avinash V. Dharmadhikari, Florence Fellmann, Stephen E. Welty, Robert M. Verdijk, Aaron Hamvas, Irene Valenzuela Palafoll, Patrick E. Lantz, Christine Galant, Adeline Vigouroux, Vincent Muhlethaler, Janet Lioy, John K. Petty, Philippe Friedlich, Charles Shaw-Smith, Colby Navarro, Ivan F M Lo, Partha Sen, Adrian Charles, Kari D Roberts, Przemyslaw Szafranski, Marta Jezova, Melissa M. Riley, Jacques S. Beckmann, Susana Fernandes, Cecilia Hagman, Karin E. M. Diderich, Linda R. Margraf, Stacey L. Peterson-Carmichael, Hari Ravindranathan, A. Julian Garvin, Gustavo Rocha, Jack Goldblatt, Laura S. Finn, Debra L. Kearney, Jane T. Gaede, Axel Bohring, Eric Giannoni, Joseph R. Siebert, Hasnaa Mostafa, Craig W. Zuppan, Melissa Sloman, Stephen Lam, Rosa L. E. van Loon, Allyn McConkie-Rosell, Ulrike Siebers-Renelt, Katarzyna E. Kolodziejska, Claire Langston, Yves Sznajer, Iveta Valášková, Alice S. Brooks, Hitesh Deshmukh, Ella Sugo, Binoy Shivanna, Zeina N. Kiblawi, Masha Bilic, Stephen R. Hays, Jinlong Liang
Publikováno v:
Human Mutation, 34(6), 801-811. Wiley-Liss Inc.
Human Mutation, vol. 34, no. 6, pp. 801-811
Human Mutation, Vol. 34, no. 6, p. 801-811 (2013)
Human Mutation, vol. 34, no. 6, pp. 801-811
Human Mutation, Vol. 34, no. 6, p. 801-811 (2013)
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Non-pulmonary anomalies involving organs of g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e93547f412898c87f48a731e9f2ddcdc
https://pure.eur.nl/en/publications/8e664830-c37b-4d96-9b60-3ee4fbf8eb98
https://pure.eur.nl/en/publications/8e664830-c37b-4d96-9b60-3ee4fbf8eb98