Arama Sonuçları - POPE, F. Michael

Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review Yazar: KAPFERER-SEEBACHER, Ines, SCHNABL, Dagmar, ZSCHOCKE, Johannes, POPE, F. Michael

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Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients Yazar: Angwin, Chloe, Brady, Angela F., Colombi, Marina, Ferguson, David J. P., Pollitt, Rebecca, Pope, F. Michael, Ritelli, Marco, Symoens, Sofie, Ghali, Neeti, van Dijk, Fleur S.

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A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum Yazar: Le Saux, Olivier, Beck, Konstanze, Sachsinger, Christine, Silvestri, Chiara, Treiber, Carina, Göring, Harald H. H., Johnson, Eric W., De Paepe, Anne, Pope, F. Michael, Pasquali-Ronchetti, Ivonne, Bercovitch, Lionel, Terry, Sharon, Boyd, Charles D.

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Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2 Yazar: Sykes, Bryan, Ogilvie, Donald, Wordsworth, Paul, Wallis, Gillian, Mathew, Chris, Beighton, Peter, Nicholls, Alan, Pope, F. Michael, Thompson, Elizabeth, Tsipouras, Petros, Schwartz, Robin, Jensson, Olafur, Arnason, Alfred, Børresen, Anne-Lise, Heiberg, Arvid, Frey, Daniel, Steinmann, Beat

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Ehlers-Danlos Syndrome with Severe Early-Onset Periodontal Disease (EDS-VIII) Is a Distinct, Heterogeneous Disorder with One Predisposition Gene at Chromosome 12p13 Yazar: Rahman, Nazneen, Dunstan, Melanie, Teare, M. Dawn, Hanks, Sandra, Douglas, Jenny, Coleman, Kim, Bottomly, William E., Campbell, Mary E., Berglund, Britta, Nordenskjöld, Magnus, Forssell, Bengt, Burrows, Nigel, Lunt, Peter, Young, Ian, Williams, Nigel, Bignell, Graham R., Futreal, P. Andrew, Pope, F. Michael

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The Gene for Juvenile Hyaline Fibromatosis Maps to Chromosome 4q21 Yazar: Rahman, Nazneen, Dunstan, Melanie, Teare, M. Dawn, Hanks, Sandra, Edkins, Sarah J., Hughes, Jaime, Bignell, Graham R., Mancini, Grazia, Kleijer, Wim, Campbell, Mary, Keser, Gokhan, Black, Carol, Williams, Nigel, Arbour, Laura, Warman, Matthew, Superti-Furga, Andrea, Futreal, P. Andrew, Pope, F. Michael

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Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis Yazar: Hanks, Sandra, Adams, Sarah, Douglas, Jenny, Arbour, Laura, Atherton, David J., Balci, Sevim, Bode, Harald, Campbell, Mary E., Feingold, Murray, Keser, Gökhan, Kleijer, Wim, Mancini, Grazia, McGrath, John A., Muntoni, Francesco, Nanda, Arti, Teare, M. Dawn, Warman, Matthew, Pope, F. Michael, Superti-Furga, Andrea, Futreal, P. Andrew, Rahman, Nazneen

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A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the... Yazar: Giunta, Cecilia, Baumann, Matthias, Fauth, Christine, Lindert, Uschi, Abdalla, Ebtesam M, Brady, Angela F, Collins, James, Dastgir, Jahannaz, Donkervoort, Sandra, Ghali, Neeti, Johnson, Diana S, Kariminejad, Ariana, Koch, Johannes, Kraenzlin, Marius, Lahiri, Nayana, Lozic, Bernarda, Manzur, Adnan Y, Morton, Jenny E V, Pilch, Jacek, Pollitt, Rebecca C, Schreiber, Gudrun, Shannon, Nora L, Sobey, Glenda, Vandersteen, Anthony, van Dijk, Fleur S, Witsch-Baumgartner, Martina, Zschocke, Johannes, Pope, F Michael, Bönnemann, Carsten G, Rohrbach, Marianne

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Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement Yazar: Kapferer-Seebacher, Ines, Pepin, Melanie, Werner, Roland, Aitman, Timothy J., Nordgren, Ann, Stoiber, Heribert, Thielens, Nicole, Gaboriaud, Christine, Amberger, Albert, Schossig, Anna, Gruber, Robert, Giunta, Cecilia, Bamshad, Michael, Björck, Erik, Chen, Christina, Chitayat, David, Dorschner, Michael, Schmitt-Egenolf, Marcus, Hale, Christopher J., Hanna, David, Hennies, Hans Christian, Heiss-Kisielewsky, Irene, Lindstrand, Anna, Lundberg, Pernilla, Mitchell, Anna L., Nickerson, Deborah A., Reinstein, Eyal, Rohrbach, Marianne, Romani, Nikolaus, Schmuth, Matthias, Silver, Rachel, Taylan, Fulya, Vandersteen, Anthony, Vandrovcova, Jana, Weerakkody, Ruwan, Yang, Margaret, Pope, F. Michael, Byers, Peter H., Zschocke, Johannes

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