检索结果 - Makrythanasis, Periklis

From sequence to functional understanding: the difficult road ahead 由 Makrythanasis, Periklis, Antonarakis, Stylianos E

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CATCHing putative causative variants in consanguineous families 由 Santoni, Federico Andrea, Makrythanasis, Periklis, Antonarakis, Stylianos E.

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Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report 由 Hamamy, Hanan, Makrythanasis, Periklis, Al-Allawi, Nasir, Muhsin, Abdulrahman A, Antonarakis, Stylianos E

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Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster 由 Santoni, Federico A., Makrythanasis, Periklis, Nikolaev, Sergey, Guipponi, Michel, Robyr, Daniel, Bottani, Armand, Antonarakis, Stylianos E.

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Next generation diagnostics on cardiomyopathy 由 Blouin, Jean-Louis, Bevillard, Jeremy, Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico, Antonarakis, Stylianos E, Fokstuen, Siv

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Genome Sequencing of five Lacticaseibacillus Strains and Analysis of Type I and II Toxin-Antitoxin System Distribution 由 Levante, Alessia, Lazzi, Camilla, Vatsellas, Giannis, Chatzopoulos, Dimitris, Dionellis, Vasilis S., Makrythanasis, Periklis, Neviani, Erasmo, Folli, Claudia

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BTNL2 gene SNPs as a contributing factor to sarcoidosis pathogenesis in a cohort of Greek patients 由 Delaveri, Aikaterini, Rapti, Aggeliki, Poulou, Myrto, Fylaktou, Eirini, Tsipi, Maria, Roussos, Charis, Makrythanasis, Periklis, Kanavakis, Emmanuel, Tzetis, Maria

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Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree 由 Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico A., Zaki, Maha, Issa, Mahmoud Y., Ansar, Muhammad, Hamamy, Hanan, Antonarakis, Stylianos E.

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Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance 由 Stamoulis, Georgios, Garieri, Marco, Makrythanasis, Periklis, Letourneau, Audrey, Guipponi, Michel, Panousis, Nikolaos, Sloan-Béna, Frédérique, Falconnet, Emilie, Ribaux, Pascale, Borel, Christelle, Santoni, Federico, Antonarakis, Stylianos E.

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NFB-17. "Optic Pathway findings in children with Neurofibromatosis type-1 (NF-1) 由 Roka, Kleoniki, Kokkinou, Eleftheria, Gavra, Maria, Tsina, Efthymia, Mparka, Konstantina, Zarafonitis, Georgios, Kosma, Konstantina, Makrythanasis, Periklis, Tzetis, Maria, Chasiotou, Maria, Kanaka-Gantenbein, Christina, Pons, Roser, Kattamis, Antonis

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Generation of Non-Small Cell Lung Cancer Patient-Derived Xenografts to Study Intratumor Heterogeneity 由 Kanaki, Zoi, Voutsina, Alexandra, Markou, Athina, Pateras, Ioannis S., Potaris, Konstantinos, Avgeris, Margaritis, Makrythanasis, Periklis, Athanasiadis, Emmanouil I., Vamvakaris, Ioannis, Patsea, Eleni, Vachlas, Konstantinos, Lianidou, Evi, Georgoulias, Vassilis, Kotsakis, Athanasios, Klinakis, Apostolos

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Variation in Novel Exons (RACEfrags) of the MECP2 Gene in Rett Syndrome Patients and Controls 由 Makrythanasis, Periklis, Kapranov, Philipp, Bartoloni, Lucia, Reymond, Alexandre, Deutsch, Samuel, Guigó, Roderic, Denoeud, France, Drenkow, Jorg, Rossier, Colette, Ariani, Francesca, Capra, Valeria, Excoffier, Laurent, Renieri, Alessandra, Gingeras, Thomas R, Antonarakis, Stylianos E

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Extrachromosomal driver mutations in glioblastoma and low grade glioma 由 Nikolaev, Sergey, Santoni, Federico, Garieri, Marco, Makrythanasis, Periklis, Falconnet, Emilie, Guipponi, Michel, Vannier, Anne, Radovanovic, Ivan, Bena, Frederique, Forestier, Françoise, Schaller, Karl, Dutoit, Valerie, Clement-Schatlo, Virginie, Dietrich, Pierre-Yves, Antonarakis, Stylianos E

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DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins 由 Sailani, M. Reza, Santoni, Federico A., Letourneau, Audrey, Borel, Christelle, Makrythanasis, Periklis, Hibaoui, Youssef, Popadin, Konstantin, Bonilla, Ximena, Guipponi, Michel, Gehrig, Corinne, Vannier, Anne, Carre-Pigeon, Frederique, Feki, Anis, Nizetic, Dean, Antonarakis, Stylianos E.

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Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3 由 Ansar, Muhammad, Chung, Hyunglok, Waryah, Yar M, Makrythanasis, Periklis, Falconnet, Emilie, Rao, Ali Raza, Guipponi, Michel, Narsani, Ashok K, Fingerhut, Ralph, Santoni, Federico A, Ranza, Emmanuelle, Waryah, Ali M, Bellen, Hugo J, Antonarakis, Stylianos E

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Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature 由 Ansar, Muhammad, Paracha, Sohail Aziz, Serretti, Alessandro, Sarwar, Muhammad T, Khan, Jamshed, Ranza, Emmanuelle, Falconnet, Emilie, Iwaszkiewicz, Justyna, Shah, Sayyed Fahim, Qaisar, Azhar Ali, Santoni, Federico A, Zoete, Vincent, Megarbane, Andre, Ahmed, Jawad, Colombo, Roberto, Makrythanasis, Periklis, Antonarakis, Stylianos E

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De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy 由 Humbert, Jonathan, Salian, Smrithi, Makrythanasis, Periklis, Lemire, Gabrielle, Rousseau, Justine, Ehresmann, Sophie, Garcia, Thomas, Alasiri, Rami, Bottani, Armand, Hanquinet, Sylviane, Beaver, Erin, Heeley, Jennifer, Smith, Ann C.M., Berger, Seth I., Antonarakis, Stylianos E., Yang, Xiang-Jiao, Côté, Jacques, Campeau, Philippe M.

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Passive and active DNA methylation and the interplay with genetic variation in gene regulation 由 Gutierrez-Arcelus, Maria, Lappalainen, Tuuli, Montgomery, Stephen B, Buil, Alfonso, Ongen, Halit, Yurovsky, Alisa, Bryois, Julien, Giger, Thomas, Romano, Luciana, Planchon, Alexandra, Falconnet, Emilie, Bielser, Deborah, Gagnebin, Maryline, Padioleau, Ismael, Borel, Christelle, Letourneau, Audrey, Makrythanasis, Periklis, Guipponi, Michel, Gehrig, Corinne, Antonarakis, Stylianos E, Dermitzakis, Emmanouil T

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Correction: Passive and active DNA methylation and the interplay with genetic variation in gene regulation 由 Gutierrez-Arcelus, Maria, Lappalainen, Tuuli, Montgomery, Stephen B, Buil, Alfonso, Ongen, Halit, Yurovsky, Alisa, Bryois, Julien, Giger, Thomas, Romano, Luciana, Planchon, Alexandra, Falconnet, Emilie, Bielser, Deborah, Gagnebin, Maryline, Padioleau, Ismael, Borel, Christelle, Letourneau, Audrey, Makrythanasis, Periklis, Guipponi, Michel, Gehrig, Corinne, Antonarakis, Stylianos E, Dermitzakis, Emmanouil T

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Tissue-Specific Effects of Genetic and Epigenetic Variation on Gene Regulation and Splicing 由 Gutierrez-Arcelus, Maria, Ongen, Halit, Lappalainen, Tuuli, Montgomery, Stephen B., Buil, Alfonso, Yurovsky, Alisa, Bryois, Julien, Padioleau, Ismael, Romano, Luciana, Planchon, Alexandra, Falconnet, Emilie, Bielser, Deborah, Gagnebin, Maryline, Giger, Thomas, Borel, Christelle, Letourneau, Audrey, Makrythanasis, Periklis, Guipponi, Michel, Gehrig, Corinne, Antonarakis, Stylianos E., Dermitzakis, Emmanouil T.

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