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Benefits of exome sequencing in children with suspected isolated hearing loss Van Heurck, Roxane; Carminho Amaro Rodrigues, Maria Teresa; Ranza, Emmanuelle Nathalie; Stafuzza, Caterina; ... Giacobino, Ariane 2021
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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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Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome) Carminho Amaro Rodrigues, Maria Teresa; Steel, Dora; Sousa, Sergio B; Brandt, Gregor; ... Bally, Julien 2020
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SCN8A heterozygous variants are associated with anoxic-epileptic seizures Ranza, Emmanuelle Nathalie; Z'Graggen, Werner; Lidgren, Mathias; Beghetti, Maurice; ... Korff, Christian 2020
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LARS2-Perrault syndrome: a new case report and literature review Carminho Amaro Rodrigues, Maria Teresa; Klee, Philippe; Laurent, Sacha; Guipponi, Michel; ... Giacobino, Ariane 2020
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MCF2 is linked to a complex perisylvian syndrome and affects cortical lamination Molinard-Chenu, Aude; Fluss, Joël Victor; Laurent, Sacha; Laurent, Meryle; ... Dayer, Alexandre 2020
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Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes Stekelenburg, Caroline; Gerster, Karine; Blouin, Jean-Louis; Lang-Muritano, Mariarosaria; ... Schwitzgebel Luscher, Valérie 2019
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Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder Varvagiannis, Konstantinos; Hanquinet, Sylviane; Billieux, M; De Luca, R; ... Fokstuen, Siv 2018
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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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Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay Ansar, Muhammad; Riazuddin, Saima; Sarwar, Muhammad Tahir; Makrythanasis, Periklis; ... Antonarakis, Stylianos 2018
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SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy Ranza, Emmanuelle Nathalie; Garcia-Tarodo, Stéphanie; Varvagiannis, Konstantinos; Guipponi, Michel; ... Korff, Christian 2017
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New insights into the pharmacogenomics of antidepressant response from the GENDEP and STAR*D studies: rare variant analysis and high-density imputation Fabbri, C; Tansey, K E; Perlis, R H; Hauser, J; ... Lewis, C M 2017
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No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients Guipponi, Michel; Santoni, Federico; Schneider, Maude; Gehrig, C; ... Antonarakis, Stylianos 2017
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Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree Makrythanasis, Periklis; Guipponi, Michel; Santoni, Federico; Zaki, Maha; ... Antonarakis, Stylianos 2016
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Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders Fokstuen, Siv; Makrythanasis, Periklis; Hammar Bouveret, Eva; Guipponi, Michel; ... Antonarakis, Stylianos 2016
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Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko 2016
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Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma Bonilla Bustillo, Ximena; Parmentier, Laurent; King, Bryan; Bezrukov, Fedor; ... Nikolaev, Sergey Igorievich 2016
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Familial epilepsy in Algeria: Clinical features and inheritance profiles Chentouf, Amina; Dahdouh, Aïcha; Guipponi, Michel; Oubaiche, Mohand Laïd; ... Antonarakis, Stylianos 2015
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