Associated Papers
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease.
Májovská J et al.
Journal of Inherited Metabolic Disease, 2024
Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World.
Gómez-Manzo S et al.
International Journal of Molecular Sciences, 2016
Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations.
Yu T et al.
Pathology, 2012
Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations.
Yu T et al.
Pathology, 2012
Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions.
Jayandharan G et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2005
Genetic analysis of haemophilia A in Bulgaria.
Petkova R et al.
Bmc Blood Disorders, 2004
Advances in carrier detection in haemophilia.
Goodeve AC
Haemophilia : the Official Journal of the World Federation of Hemophilia, 1998
Laboratory methods for the genetic diagnosis of bleeding disorders.
Goodeve AC
Clinical and Laboratory Haematology, 1998
Clinical correlates among 49 families with hemophilia A and factor VIII gene inversions.
Weinmann AF et al.
American Journal of Hematology, 1996
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