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 TitleAuthors / EditorsDate
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Immunodeficiency and lymphoma in Jacobsen syndrome Nigolian, Haig; Nieke, Jan Philipp; Chevallier, Marion; Stathaki, E; ... Jandus, Peter 2022
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Hyaline cartilage microtissues engineered from adult dedifferentiated chondrocytes: safety and role of WNT signaling Kutaish, Halah; Bengtsson Del Barrio, Laura; Tscholl, Philippe; Marteyn, Antoine; ... Tieng, Vannary 2022
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A homozygous duplication of the FGG exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family Guipponi, Michel; Masclaux, Frédéric; Sloan Bena, Frédérique; Di Sanza, Corinne; ... Neerman Arbez, Marguerite 2021
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Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients Laurent, Sacha; Gehrig, Corinne; Nouspikel, Thierry; Amr, Sami S; ... Guipponi, Michel 2021
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Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis Marconi, Caroline Baya Catherine; Lemmens, Laure; Masclaux, Frédéric; Mattioli, Francesca; ... Fokstuen, Siv 2021
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Gestational trophoblastic disease in Switzerland: retrospective study of the impact of a regional reference centre Fehlmann, Aurore; Benkortbi, Khadidja; Rosseel, Ginette; Meyer-Hamme, Ulrike; ... Undurraga Malinverno, Manuela Stefania 2021
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The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice Bagheri-Fam, Stefan; Chen, Huijun; Wilson, Sean; Ayers, Katie; ... Wilhelm, Dagmar 2020
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Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion Cleynen, Isabelle; Engchuan, Worrawat; Hestand, Matthew S; Heung, Tracy; ... Bassett, Anne S 2020
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Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase Luczkowska, Karolina; Stekelenburg, Caroline; Sloan Bena, Frédérique; Ranza, Emmanuelle Nathalie; ... Maechler, Pierre 2020
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Generation of human induced pluripotent stem cell line UNIGEi003-A from skin fibroblasts of an apparently healthy male donor Cosset, Erika; Vannary, Tieng; Sloan Bena, Frédérique; Gimelli, Stefania; ... Marteyn, Antoine 2020
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Generation of human induced pluripotent stem cell line UNIGEi001-A from a 2-years old patient with Mucopolysaccharidosis type IH disease Lito, Silvin; Burda, Patricie; Baumgartner, Matthias; Sloan Bena, Frédérique; ... Marteyn, Antoine 2019
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Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother Lambert, Nelle; Dauve, Corinne; Ranza, Emmanuelle Nathalie; Makrythanasis, Periklis; ... Giacobino, Ariane 2018
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A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis Calvel, Pierre; Kusz-Zamelczyk, Kamila; Makrythanasis, Periklis; Janecki, Damian; ... Jaruzelska, Jadwiga 2015
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Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration Murray, Aoife; Letourneau, Audrey; Canzonetta, Claudia; Stathaki, Elissavet; ... Nizetic, Dean 2015
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Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families Makrythanasis, Periklis; Nelis, Mari; Santoni, Federico; Guipponi, Michel; ... Hamamy, Hanan 2014
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Extrachromosomal driver mutations in glioblastoma and low-grade glioma Nikolaev, Sergey Igorievich; Santoni, Federico; Garieri, Marco; Makrythanasis, Periklis; ... Antonarakis, Stylianos 2014
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Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 Hibaoui, Youssef; Grad, Iwona; Letourneau, Audrey; Sailani, Mohammad Reza; ... Feki, Anis 2014
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High resolution microarray investigation in patients with developmental delay and/or multiple congenital anomalies: delineation of new candidates regions on the human genome Sloan Bena, Frédérique 2013
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Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature Sloan Bena, Frédérique; Bruno, Damien L; Eriksson, Mats; van Ravenswaaij-Arts, Conny; ... Schoumans, Jacqueline 2013
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A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family Belhedi, Nejla; Sloan Bena, Frédérique; Mrabet, Amel; Guipponi, Michel; ... Salzmann, Annick 2013
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