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Published in Genetic counseling (2015)
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The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy
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Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2
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Published in Nature genetics (01.08.2000)
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Bachmann-Gagescu, R, Dempsey, J C, Phelps, I G, O'Roak, B J, Knutzen, D M, Rue, T C, Ishak, G E, Isabella, C R, Gorden, N, Adkins, J, Boyle, E A, de Lacy, N, O'Day, D, Alswaid, A, Ramadevi A, Radha, Lingappa, L, Lourenço, C, Martorell, L, Garcia-Cazorla, À, Ozyürek, H, Haliloğlu, G, Tuysuz, B, Topçu, M, Chance, P, Parisi, M A, Glass, I A, Shendure, J, Doherty, D
Published in Journal of medical genetics (01.08.2015)
Published in Journal of medical genetics (01.08.2015)
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Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations
Ozkinay, F., Emecen, D.A., Kose, M., Isik, E., Bozaci, A.E., Canda, E., Tuysuz, B., Zubarioglu, T., Atik, T., Onay, H.
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Published in Molecular genetics and metabolism reports (01.06.2021)
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An investigation on protection properties of Tantalum (V) oxide reinforced glass screens on unexposed breast tissue for mammography examinations
Alan, H.Y., ALMisned, G., Yilmaz, A., Susam, L.A., Ilik, E., Kilic, G., Ozturk, G., Tuysuz, B., Akkus, B., Tekin, H.O.
Published in Radiography (London, England. 1995) (01.01.2024)
Published in Radiography (London, England. 1995) (01.01.2024)
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Published in Human molecular genetics (15.06.2009)
Published in Human molecular genetics (15.06.2009)
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Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases
Ranza, E., Huber, C., Levin, N., Baujat, G., Bole‐Feysot, C., Nitschke, P., Masson, C., Alanay, Y., Al‐Gazali, L., Bitoun, P., Boute, O., Campeau, P., Coubes, C., McEntagart, M., Elcioglu, N., Faivre, L., Gezdirici, A., Johnson, D., Mihci, E., Nur, B.G., Perrin, L., Quelin, C., Terhal, P., Tuysuz, B., Cormier‐Daire, V.
Published in Clinical genetics (01.06.2017)
Published in Clinical genetics (01.06.2017)
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Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3
Tuysuz, B, Mizumoto, S, Sugahara, K, Çelebi, A, Mundlos, S, Turkmen, S
Published in Clinical genetics (01.04.2009)
Published in Clinical genetics (01.04.2009)
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Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome
Schulz, AL, Albrecht, B, Arici, C, Van Der Burgt, I, Buske, A, Gillessen-Kaesbach, G, Heller, R, Horn, D, Hübner, CA, Korenke, GC, König, R, Kress, W, Krüger, G, Meinecke, P, Mücke, J, Plecko, B, Rossier, E, Schinzel, A, Schulze, A, Seemanova, E, Seidel, H, Spranger, S, Tuysuz, B, Uhrig, S, Wieczorek, D, Kutsche, K, Zenker, M
Published in Clinical genetics (01.01.2008)
Published in Clinical genetics (01.01.2008)
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Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract
Münch, Johannes, Engesser, Marie, Schönauer, Ria, Hamm, J. Austin, Hartig, Christin, Hantmann, Elena, Akay, Gulsen, Pehlivan, Davut, Mitani, Tadahiro, Coban Akdemir, Zeynep, Tüysüz, Beyhan, Shirakawa, Toshihiko, Dateki, Sumito, Claus, Laura R., van Eerde, Albertien M., Smol, Thomas, Devisme, Louise, Franquet, Hélène, Attié-Bitach, Tania, Wagner, Timo, Bergmann, Carsten, Höhn, Anne Kathrin, Shril, Shirlee, Pollack, Ari, Wenger, Tara, Scott, Abbey A., Paolucci, Sarah, Buchan, Jillian, Gabriel, George C., Posey, Jennifer E., Lupski, James R., Petit, Florence, McCarthy, Andrew A., Pazour, Gregory J., Lo, Cecilia W., Popp, Bernt, Halbritter, Jan
Published in Kidney international (01.05.2022)
Published in Kidney international (01.05.2022)
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GAZIOGLU, N, VURAL, M, SECKIN, M. S, TÜYSÜZ, B, AKPIR, E, KUDAY, C, ILIKKAN, B, ERGINEL, A, CENANI, A
Published in Child's nervous system (01.03.1998)
Published in Child's nervous system (01.03.1998)
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BRANCHIO-OCULO-FACIAL SYNDROME IN A NEWBORN CAUSED BY A NOVEL TFAP2A MUTATION
GÜNES, N, CENGIZ, F. B, DUMAN, D, DERVISOGLU, S, TEKIN, M, TÜYSÜZ, B
Published in Genetic counseling (2014)
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Published in Genetic counseling (2014)
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Unilateral tibial agenesia with preaxial polysyndactyly and renal disorder in two patients: a new syndrome?
Tüysüz, B, Beker, B D, Centel, T, Ungür, S, Iter, O
Published in Clinical dysmorphology (01.01.2001)
Published in Clinical dysmorphology (01.01.2001)
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