Search Results - Makrythanasis, Periklis

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance by 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.

Get full text Get full text Get full text

NFB-17. "Optic Pathway findings in children with Neurofibromatosis type-1 (NF-1) by 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

Get full text Get full text

Generation of Non-Small Cell Lung Cancer Patient-Derived Xenografts to Study Intratumor Heterogeneity by 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

Get full text Get full text Get full text

Variation in Novel Exons (RACEfrags) of the MECP2 Gene in Rett Syndrome Patients and Controls by 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

Get full text Get full text Get full text

Extrachromosomal driver mutations in glioblastoma and low grade glioma by 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

Get full text Get full text Get full text

DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins by 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.

Get full text Get full text Get full text

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3 by 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

Get full text Get full text Get full text

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature by 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

Get full text Get full text Get full text

De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy by 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.

Get full text Get full text Get full text

Passive and active DNA methylation and the interplay with genetic variation in gene regulation by 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

Get full text Get full text Get full text

Correction: Passive and active DNA methylation and the interplay with genetic variation in gene regulation by 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

Get full text Get full text

Tissue-Specific Effects of Genetic and Epigenetic Variation on Gene Regulation and Splicing by 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.

Get full text Get full text Get full text