Makrythanasis, Periklis

 
 
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2014

Scientific Articles

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A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactylyMakrythanasis, Periklis; Temtamy, Samia; Aglan, Mona S; Otaify, Ghada A; Antonarakis, Stylianos
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Analysis of the Born in Bradford birth cohortMakrythanasis, Periklis; Hamamy, Hanan; Antonarakis, Stylianos; Mauron, Alex; Hurst, Samia
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DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsyPicard, Fabienne; Makrythanasis, Periklis; Navarro, Vincent; Ishida, Saeko; ... Baulac, Stéphanie
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Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous familiesMakrythanasis, Periklis; Nelis, Mari; Santoni, Federico; Guipponi, Michel; ... Hamamy, Hanan
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Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasiaGannagé-Yared, Marie-Hélène; Makrythanasis, Periklis; Chouery, Eliane; Sobacchi, Cristina; ... Mégarbané, André
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EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlationsEggens, Veerle Rc; Barth, Peter G; Niermeijer, Jikke-Mien F; Berg, Jonathan N; ... Baas, Frank
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Extrachromosomal driver mutations in glioblastoma and low-grade gliomaNikolaev, Sergey Igorievich; Santoni, Federico; Garieri, Marco; Makrythanasis, Periklis; ... Antonarakis, Stylianos
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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 SignalingCallier, Patrick; Calvel, Pierre; Matevossian, Armine; Makrythanasis, Periklis; ... Nef, Serge
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Multiplex targeted high-throughput sequencing for Mendelian cardiac disordersFokstuen, Siv; Makrythanasis, Periklis; Nikolaev, Sergey Igorievich; Santoni, Federico; ... Blouin, Jean-Louis
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Next generation diagnostics on cardiomyopathyBlouin, Jean-Louis; Bevillard, Jeremy; Makrythanasis, Periklis; Guipponi, Michel; ... Fokstuen, Siv
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Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case reportAl Hamami, Hanan; Makrythanasis, Periklis; Al-Allawi, Nasir; Muhsin, Abdulrahman A; Antonarakis, Stylianos
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Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMasterSantoni, Federico; Makrythanasis, Periklis; Nikolaev, Sergey Igorievich; Guipponi, Michel; ... Antonarakis, Stylianos

2008

Scientific Articles

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Efficient targeted transcript discovery via array-based normalization of RACE librariesDjebali, Sarah; Kapranov, Philipp; Foissac, Sylvain; Lagarde, Julien; ... Guigo, Roderic
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