Confirming genes influencing risk to cleft lip with/without cleft palate in a case–parent trio study
Beaty, T. H., Taub, M. A., Scott, A. F., Murray, J. C., Marazita, M. L., Schwender, H., Parker, M. M., Hetmanski, J. B., Balakrishnan, P., Mansilla, M. A., Mangold, E., Ludwig, K. U., Noethen, M. M., Rubini, M., Elcioglu, N., Ruczinski, I.
Published in Human genetics (01.07.2013)
Published in Human genetics (01.07.2013)
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Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome
Kelley, B. P, Malfait, F, Bonafe, L, Baldridge, D, Homan, E, Symoens, S, Willaert, A, Elcioglu, N, Van Maldergem, Lionel, Verellen-Dumoulin, C, Gillerot, Y, Napierala, D, Krakow, D, Beighton, P, Superti-Furga, A, De Paepe, Alexandra, Lee, B
Published in Journal of bone and mineral research (01.03.2011)
Published in Journal of bone and mineral research (01.03.2011)
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Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients
Spena, S., Milani, D., Rusconi, D., Negri, G., Colapietro, P., Elcioglu, N., Bedeschi, F., Pilotta, A., Spaccini, L., Ficcadenti, A., Magnani, C., Scarano, G., Selicorni, A., Larizza, L., Gervasini, C.
Published in Clinical genetics (01.11.2015)
Published in Clinical genetics (01.11.2015)
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New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
Beales, P L, Elcioglu, N, Woolf, A S, Parker, D, Flinter, F A
Published in Journal of medical genetics (01.06.1999)
Published in Journal of medical genetics (01.06.1999)
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Journal Article
Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes
Mulder, P. A., Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., González, N. G., Huber, I., Iascone, M., Kaiser, A.‐S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammì, C., Mathijssen, I. B., McKee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos‐Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw‐Smith, C., Smithson, S., Suri, M., Tatton‐Brown, K., Tenorio, J., Thakker, R. V., Valdez, R. M., Van Haeringen, A., Van Hagen, J. M., Zenker, M., Zollino, M., Dunn, W. W., Piening, S., Hennekam, R. C.
Published in Journal of intellectual disability research (01.12.2020)
Published in Journal of intellectual disability research (01.12.2020)
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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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Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome
Uyanik, G, Elcioglu, N, Penzien, J, Gross, C, Yilmaz, Y, Olmez, A, Demir, E, Wahl, D, Scheglmann, K, Winner, B, Bogdahn, U, Topaloglu, H, Hehr, U, Winkler, J
Published in Neurology (11.04.2006)
Published in Neurology (11.04.2006)
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Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability
Rosin, Nadine, Elcioglu, Nursel H, Beleggia, Filippo, Isgüven, Pinar, Altmüller, Janine, Thiele, Holger, Steindl, Katharina, Joset, Pascal, Rauch, Anita, Nürnberg, Peter, Wollnik, Bernd, Yigit, Gökhan
Published in Human molecular genetics (01.07.2015)
Published in Human molecular genetics (01.07.2015)
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Journal Article
A short rib polydactyly syndrome overlapping both lethal and nonlethal types
Başgül Yiğiter, A, Güdücü, N, Kavak, Z N, Işçi, H, Elçioğlu, N
Published in Genetic counseling (01.01.2012)
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Published in Genetic counseling (01.01.2012)
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A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P.R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIOD
Sahin, S, Ograg, H, Aslan, E Atas, Akcan, A B, Turkmen, M Kaynak, Moosa, S, Elcioglu, N H
Published in Genetic counseling (01.01.2016)
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Published in Genetic counseling (01.01.2016)
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Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family
Lupi, A, Rossi, A, Campari, E, Pecora, F, Lund, A M, Elcioglu, N H, Gultepe, M, Di Rocco, M, Cetta, G, Forlino, A
Published in Journal of medical genetics (01.12.2006)
Published in Journal of medical genetics (01.12.2006)
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Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish Morquio A patients
Khedhiri, S., Chkioua, L., Elcioglu, N., Laradi, S., Miled, A.
Published in Pathologie biologie (Paris) (01.02.2014)
Published in Pathologie biologie (Paris) (01.02.2014)
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A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D
Elçioglu, N H, Pawlik, B, Colak, B, Beck, M, Wollnik, B
Published in Genetic counseling (01.01.2009)
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Published in Genetic counseling (01.01.2009)
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Comparison of the effect of ranibizumab and dexamethasone implant in diabetic macular edema with concurrent epiretinal membrane
Cakir, A., Erden, B., Bolukbasi, S., Aydin, A., Yurttaser Ocak, S., Maden, G., Elcioglu, M.N.
Published in Journal francais d'ophtalmologie (01.09.2019)
Published in Journal francais d'ophtalmologie (01.09.2019)
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Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital diaphragmatic hernia, cystic hygroma and IUGR
Basgul, A, Kavak, Z N, Akman, I, Basgul, A, Gokaslan, H, Elcioglu, N
Published in Clinical and experimental obstetrics & gynecology (2006)
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Published in Clinical and experimental obstetrics & gynecology (2006)
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