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Mathilde Giraud

An update on mutations of theSLC39A4gene in acrodermatitis enteropathica
2009 · Sébastien Schmitt, Sébastien Küry, et al. · Human Mutation · 134
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A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease
2016 · Agnès Veyradier, Pierre Boisseau, et al. · Medicine · 81
Familial Frameshift SRY Mutation Inherited from a Mosaic Father with Testicular Dysgenesis Syndrome
2009 · Bertrand Isidor, Carmen Capito, et al. · The Journal of Clinical Endocrinology & Metabolism · 38
A new mutation of ANO 6 in two familial cases of Scott syndrome
2016 · Pierre Boisseau, Marie C. Bene, et al. · British Journal of Haematology · 27
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Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next‐generation sequencing
2016 · Amandine Baurand, Sylvie Falcon‐Eicher, et al. · American Journal of Medical Genetics Part A · 9
A new case of heterozygous variant of the GP 1 BB gene responsible for macrothrombocytopenia
2019 · Antoine Babuty, Pierre Boisseau, et al. · British Journal of Haematology · 4
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Diagnostic Accuracy of the Autism Diagnostic Interview–Revised and the Autism Diagnostic Observation Schedule, Second Edition, in a Naturalistic High-Risk Autism Spectrum Disorder Sample Aged 6-25 Years
2026 · Ariane Cartigny, Corentin J. Gosling, et al. · Journal of the American Academy of Child & Adolescent Psychiatry
Works count: 7
Citation count: 293
H-index: 5
I10-index: 4
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