| | Title | Authors / Editors | Date |
|
unige:159714 |
Immunodeficiency and lymphoma in Jacobsen syndrome |
Nigolian, Haig; Nieke, Jan Philipp; Chevallier, Marion; Stathaki, E; ... Jandus, Peter |
2022 |
|
unige:164902 |
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 |
|
unige:154133 |
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 |
|
unige:148701 |
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients |
Laurent, Sacha; Gehrig, Corinne; Nouspikel, Thierry; Amr, Sami S; ... Guipponi, Michel |
2021 |
|
unige:159455 |
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis |
Marconi, Caroline Baya Catherine; Lemmens, Laure; Masclaux, Frédéric; Mattioli, Francesca; ... Fokstuen, Siv |
2021 |
|
unige:152622 |
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 |
|
unige:139078 |
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 |
|
unige:138349 |
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 |
|
unige:132087 |
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 |
|
unige:163554 |
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 |
|
unige:125806 |
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 |
|
unige:123733 |
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 |
|
unige:78097 |
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 |
|
unige:77369 |
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 |
|
unige:42302 |
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 |
|
unige:44227 |
Extrachromosomal driver mutations in glioblastoma and low-grade glioma |
Nikolaev, Sergey Igorievich; Santoni, Federico; Garieri, Marco; Makrythanasis, Periklis; ... Antonarakis, Stylianos |
2014 |
|
unige:34274 |
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 |
|
unige:29239 |
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 |
|
unige:34630 |
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 |
|
unige:162715 |
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 |
Sloan Bena, Frédérique
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