检索结果 - Sillence, David

Inherited disorders of the skeleton 由 Sillence, David

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AB019. Osteogenesis imperfecta 2015: new genes, new treatments—an Asia pacific perspective 由 Sillence, David

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Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase 由 Tchan, Michel C., Devine, Kerry T., Sillence, David O.

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The differential diagnosis of children with joint hypermobility: a review of the literature 由 Tofts, Louise J, Elliott, Elizabeth J, Munns, Craig, Pacey, Verity, Sillence, David O

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Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis 由 Sparrow, Duncan B, Sillence, David, Wouters, Merridee A, Turnpenny, Peter D, Dunwoodie, Sally L

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Effect of Reduced Agalsidase Beta Dosage in Fabry Patients: The Australian Experience 由 Ghali, Joanna, Nicholls, Kathy, Denaro, Charles, Sillence, David, Chapman, Ian, Goldblatt, Jack, Thomas, Mark, Fletcher, Janice

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Cognitive and Psychological Functioning in Fabry Disease 由 Sigmundsdottir, Linda, Tchan, Michel C., Knopman, Alex A., Menzies, Graham C., Batchelor, Jennifer, Sillence, David O.

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Intellectual functioning in alpha‐mannosidosis 由 Cathey, Sara S., Sarasua, Sara M., Simensen, Richard, Pietris, Katie, Kimbrell, Gordon, Sillence, David, Wilson, Callum, Horowitz, Lucia

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Mutated MESP2 Causes Spondylocostal Dysostosis in Humans 由 Whittock, Neil V., Sparrow, Duncan B., Wouters, Merridee A., Sillence, David, Ellard, Sian, Dunwoodie, Sally L., Turnpenny, Peter D.

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A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain 由 Leroy, Jules G, Sillence, David, Wood, Tim, Barnes, Jarrod, Lebel, Robert Roger, Friez, Michael J, Stevenson, Roger E, Steet, Richard, Cathey, Sara S

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CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures 由 Sargolzaeiaval, Forough, Zhang, Jiaming, Schleit, Jennifer, Lessel, Davor, Kubisch, Christian, Precioso, Debora R., Sillence, David, Hisama, Fuki M., Dorschner, Michael, Martin, George M., Oshima, Junko

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Early Diagnosis of Fibrodysplasia Ossificans Progressiva 由 Kaplan, Frederick S., Xu, Meiqi, Glaser, David L., Collins, Felicity, Connor, Michael, Kitterman, Joseph, Sillence, David, Zackai, Elaine, Ravitsky, Vardit, Zasloff, Michael, Ganguly, Arupa, Shore, Eileen M.

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The Natural History and Osteodystrophy of Mucolipidosis Types II and III 由 David-Vizcarra, Grace, Briody, Julie, Ault, Jenny, Fietz, Michael, Fletcher, Janice, Savarirayan, Ravi, Wilson, Meredith, McGill, Jim, Edwards, Matthew, Munns, Craig, Alcausin, Melanie, Cathey, Sarah, Sillence, David

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Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects 由 Munns, Craig F., Fahiminiya, Somayyeh, Poudel, Nabin, Munteanu, Maria Cristina, Majewski, Jacek, Sillence, David O., Metcalf, Jordan P., Biggin, Andrew, Glorieux, Francis, Fassier, François, Rauch, Frank, Hinsdale, Myron E.

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Abnormal Compartmentalization of Cartilage Matrix Components in Mice Lacking Collagen X: Implications for Function 由 Kwan, Kin Ming, Pang, Michael K.M., Zhou, Sheila, Cowan, Soot Keng, Kong, Richard Y.C., Pfordte, Tim, Olsen, Bjorn R., Sillence, David O., Tam, Patrick P.L., Cheah, Kathryn S.E.

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A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders 由 Gensure, Robert C., Mäkitie, Outi, Barclay, Catherine, Chan, Catherine, DePalma, Steven R., Bastepe, Murat, Abuzahra, Hilal, Couper, Richard, Mundlos, Stefan, Sillence, David, Ala Kokko, Leena, Seidman, Jonathan G., Cole, William G., Jüppner, Harald

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TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families 由 Andreucci, Elena, Aftimos, Salim, Alcausin, Melanie, Haan, Eric, Hunter, Warwick, Kannu, Peter, Kerr, Bronwyn, McGillivray, George, Gardner, RJ McKinlay, Patricelli, Maria G, Sillence, David, Thompson, Elizabeth, Zacharin, Margaret, Zankl, Andreas, Lamandé, Shireen R, Savarirayan, Ravi

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ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components 由 Rohrbach, Marianne, Spencer, Helen L., Porter, Louise F., Burkitt-Wright, Emma M.M., Bürer, Céline, Janecke, Andreas, Bakshi, Madhura, Sillence, David, Al-Hussain, Hailah, Baumgartner, Matthias, Steinmann, Beat, Black, Graeme C.M., Manson, Forbes D.C., Giunta, Cecilia

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Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision 由 Warman, Matthew L, Cormier-Daire, Valerie, Hall, Christine, Krakow, Deborah, Lachman, Ralph, LeMerrer, Martine, Mortier, Geert, Mundlos, Stefan, Nishimura, Gen, Rimoin, David L, Robertson, Stephen, Savarirayan, Ravi, Sillence, David, Spranger, Juergen, Unger, Sheila, Zabel, Bernhard, Superti-Furga, Andrea

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Biallelic variants in DNA2 cause microcephalic primordial dwarfism 由 Tarnauskaitė, Žygimantė, Bicknell, Louise S., Marsh, Joseph A., Murray, Jennie E., Parry, David A., Logan, Clare V., Bober, Michael B., de Silva, Deepthi C., Duker, Angela L., Sillence, David, Wise, Carol, Jackson, Andrew P., Murina, Olga, Reijns, Martin A. M.

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