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Wyszukujesz frazę ""Karimov, Catherine"" wg kryterium: Autor


Wyświetlanie 1-15 z 15
Tytuł :
PEDIA: prioritization of exome data by image analysis
Autorzy :
Hsieh, Tzung-ChienAff1, Aff2, Aff3
Mensah, Martin A.Aff2, Aff3
Pantel, Jean T.Aff1, Aff2, Aff3
Aguilar, Dione
Bar, Omri
Bayat, Allan
Becerra-Solano, Luis
Bentzen, Heidi B.
Biskup, Saskia
Borisov, Oleg
Braaten, Oivind
Ciaccio, Claudia
Coutelier, Marie
Cremer, Kirsten
Danyel, Magdalena
Daschkey, Svenja
Eden, Hilda David
Devriendt, Koenraad
Wilson, Sandra
Douzgou, SofiaAff16, Aff17
Đukić, Dejan
Ehmke, Nadja
Fauth, Christine
Fischer-Zirnsak, Björn
Fleischer, Nicole
Gabriel, Heinz
Graul-Neumann, Luitgard
Gripp, Karen W.
Gurovich, Yaron
Gusina, Asya
Haddad, Nechama
Hajjir, Nurulhuda
Hanani, Yair
Hertzberg, Jakob
Hoertnagel, Konstanze
Howell, Janelle
Ivanovski, Ivan
Kaindl, Angela
Kamphans, Tom
Kamphausen, Susanne
Karimov, Catherine
Kathom, Hadil
Keryan, Anna
Knaus, Alexej
Köhler, Sebastian
Kornak, Uwe
Lavrov, Alexander
Leitheiser, Maximilian
Lyon, Gholson J.
Mangold, Elisabeth
Reina, Purificación Marín
Carrascal, Antonio Martinez
Mitter, Diana
Herrador, Laura Morlan
Nadav, Guy
Nöthen, Markus
Orrico, Alfredo
Ott, Claus-Eric
Park, Kristen
Peterlin, Borut
Pölsler, Laura
Raas-Rothschild, Annick
Randolph, Linda
Revencu, Nicole
Fagerberg, Christina Ringmann
Robinson, Peter Nick
Rosnev, Stanislav
Rudnik, Sabine
Rudolf, Gorazd
Schatz, Ulrich
Schossig, Anna
Schubach, Max
Shanoon, Or
Sheridan, Eamonn
Smirin-Yosef, Pola
Spielmann, Malte
Suk, Eun-Kyung
Sznajer, Yves
Thiel, Christian T.
Thiel, Gundula
Verloes, Alain
Vrecar, Irena
Wahl, Dagmar
Weber, Ingrid
Winter, Korina
Wiśniewska, Marzena
Wollnik, Bernd
Yeung, Ming W.
Zhao, Max
Zhu, Na
Zschocke, Johannes
Mundlos, Stefan
Horn, Denise
Krawitz, Peter M.
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(12):2807-2814
Czasopismo naukowe
Tytuł :
PEDIA: prioritization of exome data by image analysis.
Autorzy :
Hsieh TC; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.; Berlin Institute of Health (BIH), Berlin, Germany.
Mensah MA; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.; Berlin Institute of Health (BIH), Berlin, Germany.
Pantel JT; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.; Berlin Institute of Health (BIH), Berlin, Germany.
Aguilar D; Centro de Cáncer de Mama, Tecnológico de Monterrey, Monterrey, Mexico.
Bar O; FDNA Inc., Boston, MA, USA.
Bayat A; Rigshospitalet, Department of Neurology, Copenhagen, Denmark.
Becerra-Solano L; Unidad de Investigación Médica en Medicina Reproductiva, Mexico City, Mexico.
Bentzen HB; Centre for Medical Ethics, Faculty of Medicine and the Norwegian Research Center for Computers and Law, Faculty of Law, University of Oslo, Oslo, Norway.
Biskup S; CeGaT GmbH, Tübingen, Germany.
Borisov O; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
Braaten O; Faculty of Medicine, Department of Medical Genetics, University of Oslo, Blindern, Oslo, Norway.
Ciaccio C; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Coutelier M; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
Cremer K; Department of Human Genetics, University Hospital of Bonn, Bonn, Germany.
Danyel M; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
Daschkey S; Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Eden HD; FDNA Inc., Boston, MA, USA.
Devriendt K; Department of Human Genetics, KU Leuven, Leuven, Belgium.
Wilson S; Department of Human Genetics, University of Hamburg, Hamburg, Germany.
Douzgou S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.; School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, United Kingdom.
Đukić D; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
Ehmke N; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
Fauth C; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Fischer-Zirnsak B; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
Fleischer N; FDNA Inc., Boston, MA, USA.
Gabriel H; Center for Genomics and Transcriptomics, Eberhard Karls University of Tübingen, Tübingen, Germany.
Graul-Neumann L; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
Gripp KW; A. I. duPont Hospital for Children, Wilmington, DE, USA.
Gurovich Y; FDNA Inc., Boston, MA, USA.
Gusina A; National Research and Applied Medicine Centre 'Mother and Child'', Minsk, Belarus.
Haddad N; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
Hajjir N; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
Hanani Y; FDNA Inc., Boston, MA, USA.
Hertzberg J; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
Hoertnagel K; CeGaT GmbH, Tübingen, Germany.
Howell J; Lineagen, Salt Lake City, Utah, USA.
Ivanovski I; Clinical Genetics Unit, AUSL-IRCCS Reggio Emilia, Reggio Emilia, Italy.
Kaindl A; Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité - Universitätsmedizin Berlin, Berlin, Germany.
Kamphans T; GeneTalk, Bonn, Germany.
Kamphausen S; University Hospital Magdeburg, Magdeburg, Germany.
Karimov C; Children's Hospital of Los Angeles, Los Angeles, CA, USA.
Kathom H; Department of Pediatrics, Medical University of Sofia, Sofia, Bulgaria.
Keryan A; Children's Hospital of Los Angeles, Los Angeles, CA, USA.
Knaus A; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
Köhler S; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, NeuroCure Clinical Research Center, Berlin, Germany.
Kornak U; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
Lavrov A; Research Institute of Medical Genetics of Russian Academy of Medical Sciences, Moscow, Russian Federation.
Leitheiser M; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
Lyon GJ; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Woodbury, New York, USA.
Mangold E; Institute of Human Genetics, University of Bonn, Bonn, Germany.
Reina PM; Hospital General Universitario De Valencia, Valencia, Spain.
Carrascal AM; Hospital General De Requena, Servicio Pediatría, Spain.
Mitter D; University Hospital Leipzig, Leipzig, Germany.
Herrador LM; Hospital Universitario Miguel Servet, Zaragoza, Spain.
Nadav G; FDNA Inc., Boston, MA, USA.
Nöthen M; Department of Human Genetics, University Hospital of Bonn, Bonn, Germany.
Orrico A; Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Ott CE; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
Park K; Department of Pediatrics and Neurology, University of Colorado School of Medicine, Colorado, Aurora, USA.
Peterlin B; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Pölsler L; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Raas-Rothschild A; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.
Randolph L; Children's Hospital of Los Angeles, Los Angeles, CA, USA.
Revencu N; Center for Human Genetics, University Hospital, Université Catholique de Louvain, Brussels, Belgium.
Fagerberg CR; Odense University Hospital, Odense, Denmark.
Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
Rosnev S; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
Rudnik S; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Rudolf G; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Schatz U; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Schossig A; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Schubach M; Berlin Institute of Health (BIH), Berlin, Germany.
Shanoon O; FDNA Inc., Boston, MA, USA.
Sheridan E; School of Medicine, University of Leeds, Leeds, United Kingdom.
Smirin-Yosef P; Genomic Bioinformatics Laboratory, Department of Molecular Biology, Ariel University, Ariel, Israel.
Spielmann M; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
Suk EK; Center for Prenatal Diagnosis and Human Genetics, Berlin, Germany.
Sznajer Y; Cliniques universitaires Saint Luc UCL, Bruxelles, Belgium.
Thiel CT; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg FAU, Erlangen, Erlangen, Germany.
Thiel G; Center for Prenatal Diagnosis and Human Genetics, Berlin, Germany.
Verloes A; Hopital Robert Debré, Paris, France.
Vrecar I; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Wahl D; Center for Human Genetics and Laboratory Diagnostics Dr. Klein, Dr. Rost and Colleagues, Martinsried, Germany.
Weber I; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Winter K; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
Wiśniewska M; Poznañ University of Medical Sciences, Poznañ, Poland.
Wollnik B; University Medical Center Göttingen, Göttingen, Germany.
Yeung MW; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
Zhao M; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
Zhu N; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
Zschocke J; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Mundlos S; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
Horn D; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
Krawitz PM; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany. .
Pokaż więcej
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Dec; Vol. 21 (12), pp. 2807-2814. Date of Electronic Publication: 2019 Jun 05.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Computational Biology/*methods
Image Processing, Computer-Assisted/*methods
Sequence Analysis, DNA/*methods
Algorithms ; Databases, Genetic ; Deep Learning ; Exome/genetics ; Female ; Genomics ; Humans ; Male ; Phenotype ; Software
Czasopismo naukowe
Tytuł :
Transmission of a TP53 germline mutation from unaffected male carrier associated with pediatric glioblastoma in his child and gestational choriocarcinoma in his female partner.
Autorzy :
Cotter JA; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, California 90027, USA.
Szymanski L; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, California 90027, USA.
Karimov C; Department of Medical Genetics, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, California 90027, USA.
Boghossian L; Department of Medical Genetics, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, California 90027, USA.
Margol A; Department of Pediatrics, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, California 90027, USA.
Dhall G; Department of Pediatrics, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, California 90027, USA.
Tamrazi B; Department of Radiology, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, California 90027, USA.
Varaprasathan GI; Antelope Valley Hospital Medical Center, Lancaster, California 93534, USA.
Parham DM; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, California 90027, USA.
Judkins AR; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, California 90027, USA.
Biegel JA; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, California 90027, USA.
Pokaż więcej
Źródło :
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2018 Apr 02; Vol. 4 (2). Date of Electronic Publication: 2018 Apr 02 (Print Publication: 2018).
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Germ-Line Mutation*
Heterozygote*
Choriocarcinoma/*etiology
Glioblastoma/*etiology
Tumor Suppressor Protein p53/*genetics
Adult ; Biomarkers, Tumor ; Biopsy ; Child, Preschool ; Choriocarcinoma/diagnosis ; DNA Mutational Analysis ; Female ; Glioblastoma/diagnosis ; Humans ; Immunohistochemistry ; Li-Fraumeni Syndrome/complications ; Li-Fraumeni Syndrome/genetics ; Loss of Heterozygosity ; Magnetic Resonance Imaging ; Male ; Pedigree ; Sex Factors
Czasopismo naukowe
    Wyświetlanie 1-15 z 15

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