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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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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 E 2017
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Germline PMS2 and somatic POLEexo mutations cause hypermutability of the leading DNA strand in Biallelic Mismatch Repair Deficiency syndrome brain tumors Andrianova, Maria A; Chetan, Ghati Kasturirangan; Sibin, Madathan Kandi; Mckee, Thomas Alexander; ... Nikolaev, Sergey Igorievich 2017
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Defining categories of actionability for secondary findings in next-generation sequencing Moret, Céline; Mauron, Alex; Fokstuen, Siv; Makrythanasis, Periklis; Hurst, Samia 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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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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Choking Fits During Sleep Related to Epilepsy Makrythanasis, Periklis; Behr, Charles; Baulac, Stéphanie; Hirsch, Edouard; Picard, Fabienne 2016
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Research of pathogenic mutations in the human genome through the study of consanguineous families Makrythanasis, Periklis 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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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy Assoum, Mirna; Philippe, Christophe; Isidor, Bertrand; Perrin, Laurence; ... Thevenon, Julien 2016
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CATCHing putative causative variants in consanguineous families Santoni, Federico; Makrythanasis, Periklis; Antonarakis, Stylianos 2015
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Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing Gutierrez Arcelus, Maria; Ongen, Halit; Lappalainen, Tuuli Emilia; Montgomery, Stephen; ... Dermitzakis, Emmanouil 2015
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DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins Sailani, Mohammad Reza; Santoni, Federico; Letourneau, Audrey; Borel, Christelle; ... Antonarakis, Stylianos 2015
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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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Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders Srivastava, Anuj; Ananda, Guruprasad; Liu, Rangjiao; Al Hamami, Hanan; ... Reinholdt, Laura G 2015
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Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster Santoni, Federico; Makrythanasis, Periklis; Nikolaev, Sergey Igorievich; Guipponi, Michel; ... Antonarakis, Stylianos 2014
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Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling Callier, Patrick; Calvel, Pierre; Matevossian, Armine; Makrythanasis, Periklis; ... Nef, Serge 2014
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DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy Picard, Fabienne; Makrythanasis, Periklis; Navarro, Vincent; Ishida, Saeko; ... Baulac, Stéphanie 2014
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Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders Fokstuen, Siv; Makrythanasis, Periklis; Nikolaev, Sergey Igorievich; Santoni, Federico; ... Blouin, Jean-Louis 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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