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Josiane Martin

French Institute of Health and Medical Research

15

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627

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A comprehensive genotype–phenotype description of 695 cases with fetal bowel anomalies

2010 Journal of Cystic Fibrosis
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Identification and characterization of three CFTR gene partial duplications

2008 Journal of Cystic Fibrosis
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A new large CFTR rearrangement illustrates the importance of searching for complex alleles

2006 Human Mutation
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Binding of 21 Thiol Reagents to Human Hemoglobin in Solution and in Intact Cells

2005 FEBS Journal
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NF1 gene analysis focused on CpG‐rich exons in a cohort of 93 patients with neurofibromatosis type 1

2000 Human Mutation
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Identification of Eight Mutations and Three Sequence Variations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene

1994 Genomics
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Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions

1992 Genomics
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Rapid molecular characterization of mutations leading to unstable hemoglobin β-chain variants

1992 Annals of Hematology
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Exhaustive screening of exon 10 CFTR gene mutations and polymorphisms by denaturing gradient gel electrophoresis : applications to genetic counselling in cystic fibrosis

1992 Molecular and Cellular Probes
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A comprehensive scanning method for rapid detection of β‐globin gene mutations and polymorphisms

1992 Human Mutation
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Citations (98)