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Sloan Bena, Frédérique
Sloan Bena, Frédérique
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Elements: 21
Page 1 on 1
2022
Scientific Articles
unige:159714
Immunodeficiency and lymphoma in Jacobsen syndrome
Nigolian, Haig
;
Nieke, Jan Philipp
; Chevallier, Marion; Stathaki, E; ...
Jandus, Peter
2021
Scientific Articles
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
unige:159455
Bi-allelic loss of
ERGIC1
causes relatively mild arthrogryposis
Marconi, Caroline Baya Catherine
;
Lemmens, Laure
;
Masclaux, Frédéric
; Mattioli, Francesca; ...
Fokstuen, Siv
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
unige:148701
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients
Laurent, Sacha
;
Gehrig, Corinne
;
Nouspikel, Thierry
; Amr, Sami S; ...
Guipponi, Michel
2020
Scientific Articles
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
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
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
2019
Scientific Articles
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
2018
Scientific Articles
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
2015
Scientific Articles
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
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
2014
Scientific Articles
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
unige:44227
Extrachromosomal driver mutations in glioblastoma and low-grade glioma
Nikolaev, Sergey Igorievich
;
Santoni, Federico
;
Garieri, Marco
;
Makrythanasis, Periklis
; ...
Antonarakis, Stylianos
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
2013
Scientific Articles
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
Privat-docent Thesis
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
;
2012
Scientific Articles
unige:34656
Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?
Makrythanasis, Periklis
;
Gimelli, Stefania
;
Sloan Bena, Frédérique
;
Dahoun, Sophie
; ...
Bottani, Armand
Professional Articles
unige:34647
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele
Radhakrishna, Uppala; Nath, Swapan K; McElreavey, Ken; Ratnamala, Uppala; ... Butler, Merlin G
2011
Scientific Articles
unige:34667
A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia
Gimelli, Stefania
;
Makrythanasis, Periklis
;
Stouder, Christelle
;
Antonarakis, Stylianos
; ...
Sloan Bena, Frédérique
unige:34657
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Jacquemont, Sébastien;
Reymond, Alexandre
;
Antonarakis, Stylianos
;
Sloan Bena, Frédérique
; ...
Vollenweider, Peter
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