Rieubland, Claudine

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2015

Maas, Saskia M; Shaw, Adam C; Bikker, Hennie; Lüdecke, Hermann-Josef; van der Tuin, Karin; Badura-Stronka, Magdalena; Belligni, Elga; Biamino, Elisa; Bonati, Maria Teresa; Carvalho, Daniel R; Cobben, JanMaarten; de Man, Stella A; Den Hollander, Nicolette S; Di Donato, Nataliya; Garavelli, Livia; Grønborg, Sabine; Herkert, Johanna C; Hoogeboom, A Jeannette M; Jamsheer, Aleksander; Latos-Bielenska, Anna; ... (2015). Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. European journal of medical genetics, 58(5), pp. 279-292. Elsevier 10.1016/j.ejmg.2015.03.002

Wilhelm, Matthias; Bolliger, Stephan A; Bartsch, Christine; Fokstuen, Siv; Gräni, Christoph; Martos, Viktor; Medeiros Domingo, Argelia; Osculati, Antonio; Rieubland, Claudine; Sabatasso, Sara; Saguner, Ardan Muammer; Schyma, Christian; Tschui, Joëlle; Wyler, Daniel; Bhuiyan, Zahurul A; Fellmann, Florence; Michaud, Katarzyna (2015). Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach. Swiss medical weekly, 145, w14129. EMH Schweizerischer Ärzteverlag 10.4414/smw.2015.14129

2014

Courage, Carolina; Houge, Gunnar; Gallati, Sabina; Schjelderup, Jack; Rieubland, Claudine (2014). 15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity. European journal of medical genetics, 57(9), pp. 520-523. Elsevier 10.1016/j.ejmg.2014.06.003

2012

Goeggel Simonetti, Barbara; Rieubland, Claudine; Courage, Carolina; Strozzi, Susi; Tschumi, Sibylle; Gallati, Sabina; Lemke, Johannes R (2012). Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy. Epilepsia, 53(12), pp. 2128-34. Malden, Mass.: Wiley-Blackwell 10.1111/j.1528-1167.2012.03676.x

Zufferey, F; Sherr, E H; Beckmann, N D; Hanson, E; Maillard, A M; Hippolyte, L; Mace, A; Ferrari, C; Kutalik, Z; Andrieux, J; Aylward, E; Barker, M; Bernier, R; Bouquillon, S; Conus, P; Delobel, B; Faucett, W A; Goin-Kochel, R P; Grant, E; Harewood, L; ... (2012). A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. Journal of medical genetics, 49(10), pp. 660-8. London: BMJ Publishing Group 10.1136/jmedgenet-2012-101203

2011

Hurst, Jane A; Jenkins, Dagan; Vasudevan, Pradeep C; Kirchhoff, Maria; Skovby, Flemming; Rieubland, Claudine; Gallati, Sabina; Rittinger, Olaf; Kroisel, Peter M; Johnson, David; Biesecker, Leslie G; Wilkie, Andrew O M (2011). Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. European journal of human genetics, 19(7), pp. 757-62. Houndmills, UK: Nature Publishing Group 10.1038/ejhg.2011.13

2009

Rieubland, Claudine; Francis, David; Houben, Leonie; Corrie, Sylvea; Bankier, Agnes; White, Susan M (2009). Two cases of trisomy 16 mosaicism ascertained postnatally. American journal of medical genetics. Part A, 149A(7), pp. 1523-8. Hoboken, N.J.: Wiley-Liss 10.1002/ajmg.a.32925

Bruno, D L; Ganesamoorthy, D; Schoumans, J; Bankier, A; Coman, D; Delatycki, M; Gardner, R J M; Hunter, M; James, P A; Kannu, P; McGillivray, G; Pachter, N; Peters, H; Rieubland, C; Savarirayan, R; Scheffer, I E; Sheffield, L; Tan, T; White, S M; Yeung, A; ... (2009). Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice. Journal of medical genetics, 46(2), pp. 123-31. London: BMJ Publishing Group 10.1136/jmg.2008.062604

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