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Julie Bouron

13

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215

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Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture

2019 European Journal of Human Genetics
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First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2

2017 Clinical Dysmorphology
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Deletion of the transcription factor SOX4 is implicated in syndromic nephroblastoma

2017 Clinical Genetics
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Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

2016 Journal of Human Genetics
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SCA27 is a cause of early-onset ataxia and developmental delay.

2015 European Journal of Paediatric Neurology
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New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix–Saguenay

2015 Annals of Neurology
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Prenatal diagnosis using array-CGH: a French experience.

2013 European Journal of Medical Genetics
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Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

2012 European Journal of Medical Genetics
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Citations (6)