부산대학교 도서관

Chatzimatthaiou S; Molecular Genetics Thalassaemia Department The Cyprus Institute of Neurology & Genetics Nicosia Cyprus.; Bonifazi F; Fondazione per la ricerca farmacologica Gianni Benzi onlus Bari Italy.; Gimbert AC; Rare Anemia Disorders Research Laboratory, Group of Translational Research in Cancer and Blood Disorders in Children Vall d'Hebron Institut de Recerca Barcelona Spain.; Colombatti R; Department of Women's and Children's Health University of Padua Padua Italy.; Cremonesi F; EPIONE Research Group INRIA de l'Université de la Côte d'Azur Valbonne France.; Glenthøj A; Danish Red Blood Cell Center, Department of Hematology Copenhagen University Hospital - Rigshospitalet Copenhagen Denmark.; Mezzalira E; Department of Women's and Children's Health University of Padua Padua Italy.; Stephanou C; Molecular Genetics Thalassaemia Department The Cyprus Institute of Neurology & Genetics Nicosia Cyprus.; Traeger-Synodinos J; National and Kapodistrian University of Athens Athens Greece.; Antic D; Clinic for Hematology, University Clinical Center of Serbia, Faculty of Medicine University of Belgrade Belgrade Serbia.; Durmaz B; Department of Medical Genetics Ege University, Faculty of Medicine Bornova Izmir Turkey.; Gavriilaki E; Aristotle University of Thessaloniki Thessaloniki Greece.; Inusa B; Faculty of Life Sciences and Medicine King's College London London United Kingdom.; Medical and Science, Rare Disease, Novo Nordisk, Novo Alle 1 Bagsvaerd Denmark.; Landi A; Fondazione per la ricerca farmacologica Gianni Benzi onlus Bari Italy.; Pellegrini M; Département d'Hématologie et Immunologie, Hôpital St. Louis, Assistance Publique Hôpitaux de Paris Hôpital Saint-Louis Paris France.; Basile F; Fondazione per la ricerca farmacologica Gianni Benzi onlus Bari Italy.; Muth S; StoryRelator Ltd. London United Kingdom.; Cario H; Department of Pediatrics and Adolescent Medicine and Center for Rare Hematopoietic Disorders and Immunodeficiencies (ZSHI Ulm) Ulm University Medical Center Ulm Germany.; Katsantoni E; Basic Research Center, Biomedical Research Foundation Academy of Athens Athens Greece.; Ruhluel D; Molecular Genetics Thalassaemia Department The Cyprus Institute of Neurology & Genetics Nicosia Cyprus.; Lederer CW; Molecular Genetics Thalassaemia Department The Cyprus Institute of Neurology & Genetics Nicosia Cyprus.; Mañú-Pereira MDM; Rare Anemia Disorders Research Laboratory, Group of Translational Research in Cancer and Blood Disorders in Children Vall d'Hebron Institut de Recerca Barcelona Spain.; Kountouris P; Molecular Genetics Thalassaemia Department The Cyprus Institute of Neurology & Genetics Nicosia Cyprus.

Publisher: Wiley Country of Publication: United States NLM ID: 101740619 Publication Model: eCollection Cited Medium: Internet ISSN: 2572-9241 (Electronic) Linking ISSN: 25729241 NLM ISO Abbreviation: Hemasphere Subsets: PubMed not MEDLINE

Kakourou, G.; Mamas, T.; Vrettou, C.; Traeger-Synodinos, J.

Curr Genomics

Stephanou C; The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; Chatzimatthaiou S; The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.; Kountouris P; The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.; Traeger-Synodinos J; National and Kapodistrian University of Athens, Athens, Greece.

Publisher: American Society of Hematology Country of Publication: United States NLM ID: 101698425 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2473-9537 (Electronic) Linking ISSN: 24739529 NLM ISO Abbreviation: Blood Adv Subsets: MEDLINE

Mavrogeni SI; Onassis Cardiac Surgery Center, Athens, Greece. soma13@otenet.gr.; University Research Institute of Maternal and Child Health & Precision Medicine, and UNESCO Chair in Adolescent Health Care, National and Kapodistrian University of Athens, Athens, Greece. soma13@otenet.gr.; Aghia Sophia Children's Hospital, Athens, Greece. soma13@otenet.gr.; Kekou K; Aghia Sophia Children's Hospital, Athens, Greece.; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.; Markousis-Mavrogenis G; University Research Institute of Maternal and Child Health & Precision Medicine, and UNESCO Chair in Adolescent Health Care, National and Kapodistrian University of Athens, Athens, Greece.; Aghia Sophia Children's Hospital, Athens, Greece.; National and Kapodistrian University of Athens, Athens, Greece.; Bacopoulou F; Aghia Sophia Children's Hospital, Athens, Greece.; Exercise Physiology and Sports Medicine Clinic, Center for Adolescent Medicine and UNESCO Chair in Adolescent Health Care, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.; Akrioti M; Iaso Children's Hospital, Athens, Greece.; Svingou M; Aghia Sophia Children's Hospital, Athens, Greece.; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.; Traeger-Synodinos J; Aghia Sophia Children's Hospital, Athens, Greece.; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.; Dagouloudi A; Private Paediatric Practice, Volos, Greece.; Lafioniatis S; Department of Thalassaemias, 'Achillopouleio' Volos General Hospital, Volos, Greece.; Papavasiliou A; Iaso Children's Hospital, Athens, Greece.

Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0121103 Publication Model: Print Cited Medium: Print ISSN: 0065-2598 (Print) Linking ISSN: 00652598 NLM ISO Abbreviation: Adv Exp Med Biol Subsets: MEDLINE

Kekou, K.; Svingou, M.; Sofocleous, C.; Mourtzi, N.; Nitsa, E.; Konstantinidis, G.; Youroukos, S.; Skiadas, K.; Katsalouli, M.; Pons, R.; Papavasiliou, A.; Kotsalis, C.; Pavlou, E.; Evangeliou, A.; Katsarou, E.; Voudris, K.; Dinopoulos, A.; Vorgia, P.; Niotakis, G.; Diamantopoulos, N.; Nakou, I.; Koute, V.; Vartzelis, G.; Papadimas, G.-K.; Papadopoulos, C.; Tsivgoulis, G.; Traeger-Synodinos, J.

J Neuromuscul Dis

Kollios, K.; Karipiadou, A.; Papagianni, M.; Traeger-Synodinos, J.; Kosta, K.; Savvidou, P.; Stabouli, S.; Roilides, E.

Journal of Pediatric Hematology/Oncology. 44:471-473

Salpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S.; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N.; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Calì, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C.; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G.; Abdel-Hamid, Mohamed S.; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Rafat, Karima; Marinakis, Nikolaos M.; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Khadivi Zand, Farhad; Beiraghi Toosi, Mehran; Babaei, Meisam; Jackson, Adam; Hannah, Michael G.; Bugiardini, Enrico; Bertini, Enrico; Kriouile, Yamna; El-Khorassani, Mohamed; Aguennouz, Mhammed; Groppa, Stanislav; Karashova, Blagovesta M.; Goraya, Jatinder S.; Sultan, Tipu; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Banu, Selina; Veggiotti, Pierangelo; Verrotti, Alberto; Lanari, Marcello; Savasta, Salvatore; Macaya, Alfons; Garavaglia, Barbara; Borgione, Eugenia; Papacostas, Savvas; Vikelis, Michail; Chelban, Viorica; Kaiyrzhanov, Rauan; Cortese, Andrea; Sullivan, Roisin; Papanicolaou, Eleni Z.; Dardiotis, Efthymios; Maqbool, Shazia; Ibrahim, Shahnaz; Kirmani, Salman; Rana, Nuzhat N.; Atawneh, Osama; Lim, Shen-Yang; Zuccotti, Gian V.; Marseglia, Gian L.; Esposito, Susanna; Shaikh, Farooq; Cogo, Paola; Corsello, Giovanni; Mangano, Salvatore; Nardello, Rosaria; Mangano, Donato; Scardamaglia, Annarita; Koutsis, George; Scuderi, Carmela; Ferrara, Pietro; Morello, Giovanna; Zollo, Massimo; Berni-Canani, Roberto; Terracciano, Luigi M.; Sisto, Antonio; Di Fabio, Sandra; Strano, Federica; Scorrano, Giovanna; Di Bella, Saverio; Di Francesco, Ludovica; Manizha, Ganieva; Isrofilov, Maksud; Guliyeva, Ulviyya; Salayev, Kamran; Khachatryan, Samson; Xiromerisiou, Georgia; Spanaki, Cleanthe; Fiorillo, Chiara; Iacomino, Michele; Gaudio, Eugenio; Munell, Francina; Gagliano, Antonella; Jan, Farida; Chimenz, Roberto; Gitto, Eloisa; Iughetti, Lorenzo; Di Rosa, Gabriella; Maghnie, Mohamad; Pettoello-Mantovani, Massimo; Gupta, Neerja; Kabra, Madhulika; Benrhouma, Hanene; Tazir, Meriem; Bottone, Gabriella; Farello, Giovanni; Delvecchio, Maurizio; Di-Donato, Giulio; Obeid, Makram; Bakhtadze, Sophia; Saadi, Nebal W.; Miraglia-Del-Giudice, Michele; Maccarone, Rita; Triki, Chahnez C.; Kara, Majdi; Karimiani, Ehsan G.; Salih, Ahmed M.; Ramenghi, Luca A.; Seri, Marco; Di-Falco, Giovanna; Mandarà, Luana; Barrano, Giuseppe; Elisa, Maurizio; Cherubini, Enrico; Operto, Francesca F.; Valenzise, Mariella; Cattaneo, Antonino; Zazzeroni, Francesca; Alesse, Edoardo; Matricardi, Sara; Zafar, Faisal; Ullah, Ehsan; Afzal, Erum; Rahman, Fatima; Ahmed, Muhammad M.; Parisi, Pasquale; Spalice, Alberto; De Filippo, Maria; Licari, Amelia; Trebbi, Edoardo; Romano, Ferdinando; Heimer, Gali; Al-Khawaja, Issam; Al-Mutairi, Fuad; Alkuraya, Fowzan S.; Rizig, Mie; Shashkin, Chingiz; Zharkynbekova, Nazira; Koneyev, Kairgali; Bertoli-Avella, Aida; Pagnamenta, Alistair T.; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K.; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K.; Green, Rachel; Jepson, James E. C.; Houlden, Henry

Am J Hum Genet
SYNAPS Study Group 2024, 'Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome', American Journal of Human Genetics, vol. 111, no. 1, pp. 200-210. https://doi.org/10.1016/j.ajhg.2023.11.012

Kakourou G; Laboratory of Medical Genetics, St. Sophia's, Medical School, Children's Hospital, National and Kapodistrian University of Athens, 11527 Athens, Greece.; Vrettou C; Laboratory of Medical Genetics, St. Sophia's, Medical School, Children's Hospital, National and Kapodistrian University of Athens, 11527 Athens, Greece.; Mamas T; Laboratory of Medical Genetics, St. Sophia's, Medical School, Children's Hospital, National and Kapodistrian University of Athens, 11527 Athens, Greece.; Traeger-Synodinos J; Laboratory of Medical Genetics, St. Sophia's, Medical School, Children's Hospital, National and Kapodistrian University of Athens, 11527 Athens, Greece.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Babbs, C; Brown, J; Horsley, S; Slater, J; Maifoshie, E; Kumar, S; Ooijevaar, P; Kreik, M; Dixon-Mciver, A; Harteveld, C; Traeger-Synodinos, J; Wilkie, A; Higgs, D; Buckle, V

J Med Genet

Chapman KA; Children's National Rare Disease Institute and Center for Genetic Medicine Research, Washington, DC, USA.; Ullah F; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.; Yahiku ZA; Department of Neuroscience, University of Arizona, Tucson, AZ, USA.; Khan S; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.; Kodiparthi SV; AIQure LLC, El Paso, TX, USA.; Kellaris G; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; White HG; Department of Neuroscience, University of Arizona, Tucson, AZ, USA.; Powell AT; Department of Neuroscience, University of Arizona, Tucson, AZ, USA.; Correia SP; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Stödberg T; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden; Department of Pediatric Neurology, Karolinska University Hospital, Stockholm, Sweden.; Sofocleous C; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece; Laboratory of Genetics, Faculty of Medicine, Democritus University of Thrace, Alexandroupolis, Greece.; Fryssira H; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Tsoutsou E; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Accogli A; Division of Medical Genetics, Department of Medicine, and Department of Human Genetics, McGill University, Montreal, QC, Canada.; Sciruicchio V; Children Epilepsy and EEG Center, Bari, Italy.; Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, 67100 L'Aquila, Italy.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; IRCCS Istituto Giannina Gaslini, full member of ERN-EpiCARE, Genova, Italy.; Muss C; Nemours Children's Hospital, Wilmington, DE, USA.; Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris, France.; Heron D; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris, France.; Berger SI; Children's National Rare Disease Institute and Center for Genetic Medicine Research, Washington, DC, USA.; Pond KW; Department of Cellular and Molecular Medicine, University of Arizona College of Medicine, Tucson, AZ, USA.; Sirimulla S; AIQure LLC, El Paso, TX, USA; Expert Systems Inc., San Diego, CA, USA.; Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. Electronic address: eridavis@luriechildrens.org.; Bhattacharya MRC; Department of Neuroscience, University of Arizona, Tucson, AZ, USA. Electronic address: marthab1@arizona.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Sfougataki, I.; Grafakos, I.; Varela, I.; Mitrakos, A.; Karagiannidou, A.; Tzannoudaki, M.; Poulou, M.; Mertzanian, A.; Roubelakis G., M.; Stefanaki, K.; Traeger-Synodinos, J.; Kanavakis, E.; Kitra, V.; Tzetis, M.; Goussetis, E.

Blood Cells, Molecules, and Diseases. 76:32-39

Mitrakos A; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.; University Research Institute for the Study of Genetic and Malignant Disorders in Childhood, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.; Kekou K; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.; Tilemis FN; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.; University Research Institute for the Study of Genetic and Malignant Disorders in Childhood, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.; Svingou M; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.; Papadimas G; 1st Department of Neurology, Medical School, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.; Sofocleous C; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.; Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.; Tzetis M; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Kakourou G; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece.; Sofocleous C; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece.; Mamas T; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece.; Vrettou C; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece.; Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece.

Publisher: Taylor & Francis Country of Publication: England NLM ID: 101120777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-8352 (Electronic) Linking ISSN: 14737159 NLM ISO Abbreviation: Expert Rev Mol Diagn Subsets: MEDLINE

Christodoulaki V; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.; First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece.; Kosma K; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.; Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.; University Research Institute for the Study and Treatment of Genetic and Malignant Disorders in Childhood, Aghia Sophia Children's Hospital, National and Kapodistrian University of Athens, 11527 Athens, Greece.; Tilemis FN; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.; Stergiou N; First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece.; Kampouraki A; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.; Kapogiannis C; First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece.; Karava V; First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece.; Mitsioni A; Department of Nephrology, 'P. and A. Kyriakou' Children's Hospital, 11527 Athens, Greece.; Mila M; Department of Nephrology, 'P. and A. Kyriakou' Children's Hospital, 11527 Athens, Greece.; Kanaka-Gantenbein C; First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece.; Division of Endocrinology, Diabetes and Metabolism, First Department of Pediatrics, Medical School, Aghia Sophia Children's Hospital, National and Kapodistrian University of Athens, 11527 Athens, Greece.; Makrythanasis P; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.; Tzetis M; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.; Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Kakourou, G.; Kahraman, S.; Ekmekci, G.C.; Tac, H.A.; Kourlaba, G.; Kourkouni, E.; Sanz, A.C.; Martin, J.; Malmgren, H.; Giménez, C.; Gold, V.; Carvalho, F.; Billi, C.; Chow, J.F.C.; Vendrell, X.; Kokkali, G.; Liss, J.; Steffann, J.; Traeger-Synodinos, J.

Human Reproduction. 33:520-530

Marinakis NM; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Svingou M; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Papadimas GK; Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.; Papadopoulos C; Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.; Chroni E; Department of Neurology, School of Medicine, University of Patras, Rio-Patras, Greece.; Pons R; First Department of Pediatrics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Pavlou E; Department of Pediatrics, School of Medicine, Aristotle University of Thessaloniki, University General Hospital AHEPA, Thessaloniki, Greece.; Sarmas I; Department of Neurology, Faculty of Medicine, University of Ioannina, Ioannina, Greece.; Kosma K; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Apostolou P; Human Molecular Genetics Laboratory, INRaSTES, National Center for Scientific Research 'Demokritos', Athens, Greece.; Sofocleous C; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Kekou K; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE

Saranti S; Second Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 'P&A Kyriakou' Children's Hospital, 11527 Athens, Greece.; Selenti N; Laboratory of Medical Genetics, School of Medicine, National and Kapodistrian University of Athens, 'Agia Sophia' Children's Hospital, 11527 Athens, Greece.; Sofocleous C; Laboratory of Medical Genetics, School of Medicine, National and Kapodistrian University of Athens, 'Agia Sophia' Children's Hospital, 11527 Athens, Greece.; Traeger-Synodinos J; Laboratory of Medical Genetics, School of Medicine, National and Kapodistrian University of Athens, 'Agia Sophia' Children's Hospital, 11527 Athens, Greece.; Kattamis A; Division of Pediatric Hematology/Oncology, First Department of Pediatrics, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece.; Papadakis V; Marianna V. Vardinoyanni-ELPIDA Oncology Unit, Department of Pediatric Hematology-Oncology (TAO), 'Agia Sofia' Children's Hospital, 11527 Athens, Greece.; Goussetis E; Stem Cell Transplant Unit, 'Agia Sofia' Children's Hospital, 11527 Athens, Greece.; Kelaidi C; Marianna V. Vardinoyanni-ELPIDA Oncology Unit, Department of Pediatric Hematology-Oncology (TAO), 'Agia Sofia' Children's Hospital, 11527 Athens, Greece.; Paisiou A; Stem Cell Transplant Unit, 'Agia Sofia' Children's Hospital, 11527 Athens, Greece.; Polychronopoulou S; Marianna V. Vardinoyanni-ELPIDA Oncology Unit, Department of Pediatric Hematology-Oncology (TAO), 'Agia Sofia' Children's Hospital, 11527 Athens, Greece.; Kossiva L; Second Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 'P&A Kyriakou' Children's Hospital, 11527 Athens, Greece.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101648936 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9067 (Print) Linking ISSN: 22279067 NLM ISO Abbreviation: Children (Basel) Subsets: PubMed not MEDLINE

Goumenos A; Tsoutsou E; Traeger-Synodinos J; Petychakis D; Gavra M; Kolialexi A; Frysira H

The Application of Clinical Genetics, Vol 12, Pp 19-25 (2019)

Cali E; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, United Kingdom.; Quirin T; RNA Molecular Biology, Fonds de la Recherche Scientifique (F.R.S./FNRS), Université libre de Bruxelles (ULB), Biopark campus, Gosselies, Belgium.; Rocca C; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, United Kingdom.; Efthymiou S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, United Kingdom.; Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Suri M; UK National Paediatric Ataxia Telangiectasia Clinic, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom.; Dominguez R; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.; Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Alavi S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, United Kingdom; Palindrome, Isfahan, Iran.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre Cairo, Egypt.; Morsy H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, United Kingdom; Human Genetics Department, Medical Research Institute, Alexandria University, Egypt.; Mau-Them FT; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France; INSERM UMR1231 GAD, Dijon, France.; Nizon M; Service de génétique médicale, CHU de Nantes, Nantes, France; Institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.; Tesner P; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Ryba L; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Zafar F; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan.; Rana N; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan.; Saadi NW; College of Medicine/University of Baghdad, Unit of Pediatric Neurology, Children Welfare Teaching Hospital, Baghdad, Iraq.; Firoozfar Z; Palindrome, Isfahan, Iran.; Gencpinar P; İzmir Katip Çelebi University Tepecik Training and Research Department of Pediatric Neurology, Izmir, Turkey.; Unay B; University of Health Sciences, Gülhane Faculty of Medicine, Department of Child Neurology, Ankara, Turkey.; Ustun C; University of Health Sciences, Gülhane Faculty of Medicine, Department of Child Neurology, Ankara, Turkey.; Bruel AL; Unité Fontctionnelle d'Innovation diagnostiques des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France; INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement' Dijon, France.; Coubes C; Département de Génétique Médicale, Maladies rares et Médecine Personnalisée, et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHRU de Montpellier, Montpellier, France.; Stefanich J; Genetic Center, Akron Children's Hospital, Akron, OH.; Sezer O; Department of Medical Genetics, Samsun University, Faculty of Medicine, Samsun, Turkey.; Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.; Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.; Vasco G; Department of Neurosciences, Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Lettori D; Department of Neurosciences, Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Milh M; Aix-Marseille Univ, APHM, department of Pediatrics Neurology. Timone children Hospital. Marseille, France.; Villard L; Aix Marseille Univ, Inserm, MMG, Marseille, France Service de Génétique Médicale, AP-HM, Hôpital de La Timone, Marseille, France.; Zeidler S; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; Opperman H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; El Khassab H; Sulaiman Al Habib Hospital - Olaya Medical Complex-Riyadh, Saudi Arabia.; Chand P; Department of Paediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan.; Ibrahim S; Department of Paediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan.; Rashidi-Nezhad A; Maternal, Fetal and Neonatal Research Center, Family Health Research Institute, Tehran University of Medical Sciences, Tehran, Iran; Genetics Ward, Yas Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran.; Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Larki P; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Morrison J; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL.; Cristian I; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL.; Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO; Kansas City School of Medicine, University of Missouri, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO.; Bertsch NL; The Community Health Clinic, Shipshewana, IN.; Noh GJ; Department of Genetics, Southern California Permanente Medical Group, Fontana, CA.; Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY; Clinical Genetics, NYU Orthopedic Hospital, New York, NY.; Moran E; Clinical Genetics, Center for Children, Hassenfeld Children's Hospital, New York University, New York, NY.; Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Hosseini S; Pardis Pathobiology and Genetics Laboratory, Mashhad, Iran.; Abbaszadegan MR; Department of Medical Genetics and Molecular Medicine, School of Medicine, Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Caumes R; Service de Génétique Clinique, CHU Lille, Lille, France.; Vissers LELM; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Neshatdoust M; Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran.; Montazer Zohour M; Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.; El Fahime E; Centre Mohamed VI for Research and Innovation (CM6RI) and University Mohamed VI for Health Science (UM6SS), Benguerir, Morocco.; Canavati C; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine.; Kamal L; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine.; Kanaan M; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine.; Askander O; Faculty of Medical Sciences, Mohammed 6 Polytechnic University of Benguerir, Ben Guerir, Morocco.; Voinova V; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov, Russian National Research Medical University, Ministry of Health of Russian Federation, Moscow, Russia; Mental Health Research Center, Moscow, Russia.; Levchenko O; Research Centre for Medical Genetics, Moscow, Russia.; Haider S; Paediatrics Wah Medical College NUMS, Wah Cantonment, Punjab, Pakistan.; Halbach SS; University of Chicago Medicine, University of Chicago, Chicago, IL.; Elias Maia R; Department of Paediatrics and Genetics, Universidade Federal de Paraiba, Joao Pessoa, Paraiba, Brazil.; Mansoor S; Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran; Medical Genetics Research Center of Genome, Isfahan University of Medical Sciences, Isfahan, Iran.; Jain V; Department of Pediatric Neurology, Neo Clinic Children's Hospital, Jaipur, India.; Tawde S; Department of Human Genetics, The University of Chicago, Illinois.; Challa VSR; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India.; Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India.; Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India.; Victor LA; Department of Pediatric Neurology - Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Boa Vista, Recife, Brazil.; Pinero-Banos B; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Hague J; Clinical Genetics service, Northampton General Hospital, Northampton, United Kingdom.; ElAwady HA; Department of Pediatrics, Fayoum University Hospitals, Fayoum, Egypt.; Maria de Miranda Henriques-Souza A; Instituto de Medicina Integral Prof. Fernando Figueira, Centro de Terapias Cetogênicas do IMIP, Recife PE, Brazil.; Cheema HA; Department of Pediatric Gastroenterology Hepatology and Genetic diseases Children's Hospital and University of Child Health Sciences Lahore, Pakistan.; Anjum MN; Department of Pediatric Gastroenterology Hepatology and Genetic diseases Children's Hospital and University of Child Health Sciences Lahore, Pakistan.; Idkaidak S; Al-Quds University, Jerusalem, Palestine.; Alqarajeh F; PRCS hospital, Hebron, Palestine.; Atawneh O; PRCS hospital, Hebron, Palestine.; Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israe.; Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israe.; Zifarelli G; CENTOGENE GmbH, Rostock, German.; Bauer P; CENTOGENE GmbH, Rostock, German.; Kok F; Mendelics Genomic Analysis, São Paulo, Brazil.; Kitajima JP; Mendelics Genomic Analysis, São Paulo, Brazil.; Monteiro F; Mendelics Genomic Analysis, São Paulo, Brazil.; Josahkian J; Mendelics Genomic Analysis, São Paulo, Brazil.; Lesca G; Hospices Civils de Lyon, Service de Génétique, Bron, France; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France.; Chatron N; Hospices Civils de Lyon, Service de Génétique, Bron, France; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France.; Ville D; Department of Neuropediatric, University Hospital of Lyon, Lyon, France.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Neul JL; Department of Pediatrics, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN.; Mullegama SV; GeneDx, Gaithersburg, MD.; Begtrup A; GeneDx, Gaithersburg, MD.; Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Tay CG; Clinical Research Centre, Sunway Medical Centre, Malaysia.; Javed I; Department of Paediatric Neurology, Children Hospital and Institute of Child Health, Faisalabad, Pakistan.; Carr L; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Kanani F; West Midlands Clinical Genetics Service, Birmingham Women's Hospital, Birmingham, United Kingdom.; Beecroft F; West Midlands Clinical Genetics Service, Birmingham Women's Hospital, Birmingham, United Kingdom.; Hane L; Division of Medical Genetics, 3billion, Inc, Seoul, South Korea.; Abdelkreem E; Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt.; Macek M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Bispo L; Laboratório Mendelics, Department of Genetic, São Paulo, Brazil.; Elmaksoud MA; Neurology Unit, Department of Pediatrics, Faculty of Medicine, Alexandria University, Egypt.; Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Amor DJ; Department of Paediatrics, Murdoch Children's Research Institute and University of Melbourne, Royal Children's Hospital, Melbourne, Australia.; Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Ghayoor Karimiani E; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, United Kingdom; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.; Campeau PM; CHU Sainte-Justine Research Center, Montreal, QC, Canada; Department of Pediatrics, Faculty of Medicine, Université de Montréal, Montreal, QC, Canada.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Pagnamenta AT; NIHR Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.; Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, CA; Rady Children's Institute for Genomic Medicine, San Diego, CA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Moreno-De-Luca A; Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada.; Lafontaine DLJ; RNA Molecular Biology, Fonds de la Recherche Scientifique (F.R.S./FNRS), Université libre de Bruxelles (ULB), Biopark campus, Gosselies, Belgium.; Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, United Kingdom.; Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, United Kingdom. Electronic address: r.maroofian@ucl.ac.uk.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

C Coralea Stephanou; P Petros Kountouris; C Carsten W Lederer; C Celeste Bento; C Cornelis L Hartveld; J Jan Traeger-Synodinos; J John S Waye; Z Zhiyu Peng; I Irene Fylaktou; H Hashim Halim-Fikri; T Tamara T. Koopmann; L Landry Nfonsam; J Jun Sun; F Franck Nzengu-Lukusa; M Michael Angastiniotis; C Catherine Badens; B Bertha Ibarra Cortes; J Johan T. den Dunnen; J Jacques Elion; S Suthat Fucharoen; K Kyriaki Michailidou; T Thessalia Papasavva; A Antonio Piga; R Raj Ramesar; S Swee Lay Thein; L Léon Tshilolo; Z Zilfalil Bin Alwi; M Marina Kleanthous

HemaSphere, Vol 6, Pp 34-35 (2022)