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Helen Fryssira

Showing results (31-40 of 43) with videos related to

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American Journal of Medical Genetics. Part A|May 19, 2021
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disordersNikolaos M Marinakis, Maria Svingou, Danai Veltra, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 19, 2013
Screening of UBE3A gene in patients referred for Angelman SyndromeEvmorfia Tzagkaraki, Christalena Sofocleous, Helen Fryssira-Kanioura, et al.
Journal of Hematology & Oncology|November 13, 2014
Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in non-Hodgkin lymphomaDavid Guenat, Samuel Quentin, Carmelo Rizzari, et al.
Journal of Pediatric Hematology/Oncology|July 2, 2019
Bone Marrow Failure in Fanconi Anemia: Clinical and Genetic Spectrum in a Cohort of 20 Pediatric PatientsCharikleia Kelaidi, Alexandros Makis, Loizos Petrikkos, et al.
Molecular Genetics & Genomic Medicine|June 2, 2016
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) geneAude-Annick Suter, Peter Itin, Karl Heinimann, et al.
Orphanet Journal of Rare Diseases|April 17, 2014
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndromeVanessa A van Rahden, Isabella Rau, Sigrid Fuchs, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 26, 2019
The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care centerVasiliki Zouvelou, Delia Yubero, Loukia Apostolakopoulou, et al.
European Journal of Pediatrics|December 17, 2009
Schimke immunoosseous dysplasia: defining skeletal featuresKshamta B Hunter, Thomas Lücke, Jürgen Spranger, et al.
Clinical Immunology (Orlando, Fla.)|October 27, 2015
Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD)Mrinmoy Sanyal, Marie Morimoto, Alireza Baradaran-Heravi, et al.
Human Mutation|July 22, 2014
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous familiesPeriklis Makrythanasis, Mari Nelis, Federico A Santoni, et al.
Pageof 5

Showing results (31-40 of 43) with videos related to

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Pageof 5
American Journal of Medical Genetics. Part A|May 19, 2021
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disordersNikolaos M Marinakis, Maria Svingou, Danai Veltra, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 19, 2013
Screening of UBE3A gene in patients referred for Angelman SyndromeEvmorfia Tzagkaraki, Christalena Sofocleous, Helen Fryssira-Kanioura, et al.
Journal of Hematology & Oncology|November 13, 2014
Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in non-Hodgkin lymphomaDavid Guenat, Samuel Quentin, Carmelo Rizzari, et al.
Journal of Pediatric Hematology/Oncology|July 2, 2019
Bone Marrow Failure in Fanconi Anemia: Clinical and Genetic Spectrum in a Cohort of 20 Pediatric PatientsCharikleia Kelaidi, Alexandros Makis, Loizos Petrikkos, et al.
Molecular Genetics & Genomic Medicine|June 2, 2016
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) geneAude-Annick Suter, Peter Itin, Karl Heinimann, et al.
Orphanet Journal of Rare Diseases|April 17, 2014
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndromeVanessa A van Rahden, Isabella Rau, Sigrid Fuchs, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 26, 2019
The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care centerVasiliki Zouvelou, Delia Yubero, Loukia Apostolakopoulou, et al.
European Journal of Pediatrics|December 17, 2009
Schimke immunoosseous dysplasia: defining skeletal featuresKshamta B Hunter, Thomas Lücke, Jürgen Spranger, et al.
Clinical Immunology (Orlando, Fla.)|October 27, 2015
Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD)Mrinmoy Sanyal, Marie Morimoto, Alireza Baradaran-Heravi, et al.
Human Mutation|July 22, 2014
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous familiesPeriklis Makrythanasis, Mari Nelis, Federico A Santoni, et al.
Pageof 5