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Wyświetlanie 1-3 z 3
Tytuł :
BRCA Share: A Collection of Clinical BRCA Gene Variants.
Autorzy :
Béroud C; Aix Marseille Univ, INSERM, GMGF, Marseille, France.; APHM, Hôpital TIMONE Enfants, Laboratoire de Génétique Moléculaire, Marseille, France.
Letovsky SI; Laboratory Corporation of America, Westborough, Massachusetts.
Braastad CD; Quest Diagnostics, Marlborough, Massachusetts.
Caputo SM; Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris, France.
Beaudoux O; CHU et Institut Jean Godinot, Reims, France.
Bignon YJ; Centre Jean Perrin, Clermont-Ferrand, France.
Bressac-De Paillerets B; Institut Gustave Roussy, Villejuif, France.
Bronner M; CHU de Nancy-Brabois, Vandoeuvre-lés-Nancy, France.
Buell CM; Quest Diagnostics, Marlborough, Massachusetts.
Collod-Béroud G; Aix Marseille Univ, INSERM, GMGF, Marseille, France.
Coulet F; Groupe hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Laboratoire d'Oncogénétique et Angiogénétique moléculaire, Université Pierre et Marie Curie, Paris, France.
Derive N; Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris, France.
Divincenzo C; Quest Diagnostics, Marlborough, Massachusetts.
Elzinga CD; Quest Diagnostics, Marlborough, Massachusetts.
Garrec C; CHU, Institut de Biologie, Hôtel Dieu, Nantes, France.
Houdayer C; Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris, France.; Université Paris Descartes, Paris, France.
Karbassi I; Quest Diagnostics, Marlborough, Massachusetts.
Lizard S; CHU de Dijon, Hôpital d'Enfants, Service de Génétique Médicale, Dijon, France.
Love A; Quest Diagnostics, Marlborough, Massachusetts.
Muller D; Centre Paul Strauss, Strasbourg, France.
Nagan N; Laboratory Corporation of America, Westborough, Massachusetts.
Nery CR; Quest Diagnostics, San Juan Capistrano, California.
Rai G; Aix Marseille Univ, INSERM, GMGF, Marseille, France.
Revillion F; Centre Oscar Lambret, Unité d'Oncologie Moléculaire Humaine, Lille, France.
Salgado D; Aix Marseille Univ, INSERM, GMGF, Marseille, France.
Sévenet N; Institut Bergonié, Bordeaux, France.
Sinilnikova O; Hospices Civils de Lyon and Centre Léon Bérard, Lyon, France.
Sobol H; Institut Paoli-Calmettes, Marseille, France.
Stoppa-Lyonnet D; Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris, France.; Université Paris Descartes, Paris, France.
Toulas C; Institut Claudius Régaud, Toulouse, France.
Trautman E; Laboratory Corporation of America, Westborough, Massachusetts.
Vaur D; Laboratoire de biologie et de génétique du cancer, CLCC François Baclesse, INSERM 1079 Centre Normand de Génomique et de Médecine Personnalisée, Caen, France.
Vilquin P; Laboratoire de Biologie Cellulaire et Hormonale (CHU Arnaud de Villeneuve), Montpellier, France.
Weymouth KS; Laboratory Corporation of America, Westborough, Massachusetts.
Willis A; Laboratory Corporation of America, Research Triangle Park, North Carolina.
Eisenberg M; Laboratory Corporation of America, Research Triangle Park, North Carolina.
Strom CM; Quest Diagnostics, San Juan Capistrano, California.
Pokaż więcej
Corporate Authors :
Laboratory Corporation of America Variant Classification Group; Laboratory Corporation of America, Westborough, Massachusetts.; Laboratory Corporation of America, Research Triangle Park, North Carolina.
Quest Diagnostics Variant Classification Group; Quest Diagnostics, Marlborough, Massachusetts.; Quest Diagnostics, San Juan Capistrano, California.
UNICANCER Genetic Group BRCA Laboratory Network
Źródło :
Human mutation [Hum Mutat] 2016 Dec; Vol. 37 (12), pp. 1318-1328. Date of Electronic Publication: 2016 Sep 28.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Databases, Factual*/economics
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Breast Neoplasms/*genetics
Ovarian Neoplasms/*genetics
Data Curation ; Female ; Genetic Predisposition to Disease ; Humans ; Mutation
Czasopismo naukowe
Tytuł :
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.
Autorzy :
Karbassi I; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
Maston GA; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
Love A; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
DiVincenzo C; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
Braastad CD; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
Elzinga CD; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
Bright AR; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
Previte D; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
Zhang K; Quest Diagnostics, Nichols Institute, San Juan Capistrano, California.
Rowland CM; Quest Diagnostics, Celera, Alameda, California.
McCarthy M; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
Lapierre JL; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
Dubois F; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
Medeiros KA; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
Batish SD; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
Jones J; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
Liaquat K; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
Hoffman CA; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
Jaremko M; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
Wang Z; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
Sun W; Quest Diagnostics, Nichols Institute, San Juan Capistrano, California.
Buller-Burckle A; Quest Diagnostics, Nichols Institute, San Juan Capistrano, California.
Strom CM; Quest Diagnostics, Nichols Institute, San Juan Capistrano, California.
Keiles SB; Quest Diagnostics, Nichols Institute, San Juan Capistrano, California.
Higgins JJ; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
Pokaż więcej
Źródło :
Human mutation [Hum Mutat] 2016 Jan; Vol. 37 (1), pp. 127-34. Date of Electronic Publication: 2015 Oct 29.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Predisposition to Disease*
Genetic Variation*
Software*
Computational Biology/*methods
Genomics/*methods
Humans ; Observer Variation ; Reproducibility of Results ; Web Browser
Czasopismo naukowe
Tytuł :
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
Autorzy :
DiVincenzo C; Quest Diagnostics, Athena Diagnostics Marlborough, Massachusetts.
Elzinga CD; Quest Diagnostics, Athena Diagnostics Marlborough, Massachusetts.
Medeiros AC; Quest Diagnostics, Athena Diagnostics Marlborough, Massachusetts.
Karbassi I; Quest Diagnostics, Athena Diagnostics Marlborough, Massachusetts.
Jones JR; Quest Diagnostics, Athena Diagnostics Marlborough, Massachusetts.
Evans MC; Quest Diagnostics, Athena Diagnostics Marlborough, Massachusetts.
Braastad CD; Quest Diagnostics, Athena Diagnostics Marlborough, Massachusetts.
Bishop CM; Quest Diagnostics, Athena Diagnostics Marlborough, Massachusetts.
Jaremko M; Quest Diagnostics, Athena Diagnostics Marlborough, Massachusetts.
Wang Z; Quest Diagnostics, Athena Diagnostics Marlborough, Massachusetts.
Liaquat K; Quest Diagnostics, Athena Diagnostics Marlborough, Massachusetts.
Hoffman CA; Quest Diagnostics, Athena Diagnostics Marlborough, Massachusetts.
York MD; Quest Diagnostics, Athena Diagnostics Marlborough, Massachusetts.
Batish SD; Quest Diagnostics, Athena Diagnostics Marlborough, Massachusetts.
Lupski JR; Departments of Molecular and Human Genetics and Pediatrics, Baylor College of Medicine Houston, Texas.
Higgins JJ; Quest Diagnostics, Athena Diagnostics Marlborough, Massachusetts.
Pokaż więcej
Źródło :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2014 Nov; Vol. 2 (6), pp. 522-9. Date of Electronic Publication: 2014 Aug 21.
Typ publikacji :
Journal Article
Czasopismo naukowe
    Wyświetlanie 1-3 z 3

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