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 TitleAuthors / EditorsDate
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Cancer predisposition syndromes as a risk factor for early second primary neoplasms after childhood cancer - A national cohort study Waespe, Nicolas; Belle, Fabiën; Redmond, Shelagh; Schindera, Christina; ... Kuehni, Claudia E 2021
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Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis Tønne, Elin; Due-Tønnessen, Bernt Johan; Mero, Inger-Lise; Wiig, Ulrikke Straume; ... Heimdal, Ketil Riddervold 2021
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Predictors for participation in DNA self-sampling of childhood cancer survivors in Switzerland Waespe, Nicolas; Strebel, Sven; Marino, Denis; Mattiello, Veneranda; ... Ansari Djaberi, Marc Georges 2021
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Deciphering the natural history of SCA7 in children Bah, M G; Rodriguez, D; Cazeneuve, C; Mochel, F; ... Mignot, C 2020
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Usefulness of genetic testing in sudden cardiac arrest survivors with or without previous clinical evidence of heart disease Asatryan, Babken; Schaller, André; Seiler, Jens; Servatius, Helge; ... Medeiros-Domingo, Argelia 2019
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The spectrum of intermediate SCN8A-related epilepsy Johannesen, Katrine M; Gardella, Elena; Encinas, Alejandra C; Lehesjoki, Anna-Elina; ... Møller, Rikke S 2019
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A rare cause of a cholestatic jaundice in a north african teenager Schreiner, Philipp; Stieger, Bruno; Mclin, Valérie Anne; Rougemont-Pidoux, Anne-Laure; ... Müllhaupt, Beat 2019
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Tests préimplantatoires de l'embryon en médecine de reproduction Benard, Julie Gabrielle Anne; Targa Barrera, Célia; Murisier, Fabien; Giacobino, Ariane; Streuli, Isabelle 2019
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Mutational epidemiology of congenital fibrinogen disorders Casini, Alessandro; Blondon, Marc; Tintillier, Veronique; Goodyer, Matthew; ... Neerman Arbez, Marguerite 2018
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A genomic screen for angiosuppressor genes in the tumor endothelium identifies a multifaceted angiostatic role for bromodomain containing 7 (BRD7) van Beijnum, Judy R; Nowak-Sliwinska, Patrycja; van Berkel, Maaike; Wong, Tse J; Griffioen, Arjan W 2017
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Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol Bocchetta, Martina; Mega, Anna; Bernardi, Livia; Di Maria, Emilio; ... Bruni, Amalia C 2016
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Identification of VPS35 mutations replicated in French families with Parkinson disease Lesage, S; Condroyer, C; Klebe, S; Honoré, A; ... Brice, A 2012
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Les tests génétiques peuvent-ils être utiles pour la prévention cardiovasculaire ? Bochud, Murielle; Fellmann, Florence; Guessous, Idris 2012
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Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency Tirefort, Yordanka; Uhr, Mario R; Neerman Arbez, Marguerite; De Moerloose, Philippe 2012
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Naturally occurring Carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy Sapio, Matthew R; Salzmann, Annick; Vessaz, Monique; Crespel, Arielle; ... Fricker, Lloyd D 2012
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Early Event-Related Cortical Activity Originating in the Frontal Eye Fields and Inferior Parietal Lobe Predicts the Occurrence of Correct and Error Saccades Ptak, Radek; Camen, Christian; Morand, Stéphanie; Schnider, Armin 2011
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A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family Levrat, Emmanuel; Aboukhamis, Imad; De Moerloose, Philippe; Farho, Jaafar; ... Neerman Arbez, Marguerite 2011
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The CST3 B haplotype is associated with frontotemporal lobar degeneration Benussi, L; Ghidoni, R; Galimberti, D; Boccardi, Marina; ... Binetti, G 2010
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Marked hemiatrophy in carriers of Duchenne muscular dystrophy Rajakulendran, Sanjeev; Kuntzer, Thierry; Dunand, Murielle; Yau, Shu C.; ... Hanna, Michael G. 2010
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Telomere length is not predictive of dementia or MCI conversion in the oldest old Zekry Berger, Dina Selma; Herrmann, François; Irminger-Finger, Irmgard; Ortolan, Laura; ... Krause, Karl-Heinz 2010
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