Search Result "compound heterozygosis"


Case Report

Factor X Deficiency Due to a Compound Heterozygosis Between a New Mutation (Gla72Asp) in Exon 2 and an Already Known one (Gly154Arg) in Exon 5: Factor X Mar Del Plata1)

Journal: Cardiovascular & Hematological Disorders-Drug Targets
Volume: 19 Issue: 2 Year: 2019 Page: 169-173
Author(s): Antonio Girolami,Diana Noemi Garcia de Paoletti,Marcelo Leonardo Nenkies,Silvia Ferrari,Hugo Guglielmone

Research Article

Thrombotic Events in Homozygotes with a Proven or Highly Probable Arg304Gln Factor VII Mutation (FVII Padua)1): Only Limited Replacement Therapy is Needed in Case of Surgery

Journal: Cardiovascular & Hematological Disorders-Drug Targets
Volume: 19 Issue: 3 Year: 2019 Page: 233-238
Author(s): Antonio Girolami,Elisabetta Cosi,Silvia Ferrari,Bruno Girolami,Maria L. Randi

Metronidazole Induced DNA Damage in Somatic Cells of Drosophila melanogaster

Journal: Current Drug Safety
Volume: 8 Issue: 3 Year: 2013 Page: 195-198
Author(s): Ana Maria Palermo,Marta Dolores Mudry

Alkaptonuria, Ochronosis and Ochronotic Arthropathy in Mainland France and the Reunion Island. A Report of Clinical and Molecular Findings in 29 Patients

Journal: Current Rheumatology Reviews
Volume: 5 Issue: 2 Year: 2009 Page: 111-125
Author(s): Robert Aquaron, Santiago Rodriguez de Cordoba, Miguel Penalva, Catherine Badens, Hubert Roux

Targeting Potassium Channels: New Advances in Cardiovascular Therapy

Journal: Recent Patents on Cardiovascular Drug Discovery (Discontinued)
Volume: 3 Issue: 2 Year: 2008 Page: 105-118
Author(s): Ramon Martinez-Marmol, Meritxell Roura-Ferrer, Antonio Felipe

Review Article

PARP Inhibitors in Ovarian Cancer

Journal: Recent Patents on Anti-Cancer Drug Discovery
Volume: 13 Issue: 4 Year: 2018 Page: 392-410
Author(s): Gloria Mittica,Eleonora Ghisoni,Gaia Giannone,Sofia Genta,Massimo Aglietta,Anna Sapino,Giorgio Valabrega

Megsin Gene: Its Genomic Analysis, Pathobiological Functions, and Therapeutic Perspectives

Journal: Current Genomics
Volume: 8 Issue: 3 Year: 2007 Page: 203-208
Author(s): Toshio Miyata, Ming Li, Xueqing Yu, Noriaki Hirayama

Review Article

Sitosterolemia: Diagnosis, Metabolic and Hematological Abnormalities, Cardiovascular Disease and Management

Journal: Current Medicinal Chemistry
Volume: 26 Issue: 3 Year: 2019 Page: 6766-6775
Author(s): Jose María Bastida,María Luisa Girós,Rocío Benito,Kamila Janusz,Jesús María Hernández-Rivas,José Ramón González-Porras

Inflammation and Thrombophilia in Pregnancy Complications: Implications for Risk Assessment and Clinical Management

Journal: Cardiovascular & Hematological Disorders-Drug Targets
Volume: 15 Issue: 3 Year: 2015 Page: 187-203
Author(s): Francesca La Farina,Valeria Raparelli,Laura Napoleone,Fiorella Guadagni,Stefania Basili,Patrizia Ferroni

Chemotherapy and Target Therapy in the Management of Adult High- Grade Gliomas

Journal: Current Cancer Drug Targets
Volume: 12 Issue: 8 Year: 2012 Page: 1016-1031
Author(s): Gian Paolo Spinelli,Evelina Miele,Giuseppe Lo Russo,Massimo Miscusi,Giovanni Codacci-Pisanelli,Vincenzo Petrozza,Anselmo Papa,Luigi Frati,Carlo Della Rocca,Alberto Gulino,Silverio Tomao

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