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Brigitte Benzacken

University of Paris

77

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1227

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Autosomal recessive primary microcephaly due to ASPM mutations: An update (vol 39, pg 319, 2018)

2019 Human Mutation
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Novel genes associated with isolated optic nerve hypoplasia in 6 family trios - a clinical and exome study

2017 Acta Ophthalmologica
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Intégration des données de RNAseq sur cellule unique du cerveau

2017 Morphologie
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Fetal-maternal chimerism in peritoneal tissue implants after tubal ectopic pregnancy

2016 Gynecologie Obstetrique & Fertilite
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High Frequency of X Chromosome Abnormalities in Women With Short Stature and Elevated Liver Enzymes

2014 The Journal of Clinical Endocrinology and Metabolism
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3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome

2014 Molecular Cytogenetics
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Syndromal Retinitis Pigmentosa Associated with a 12p13.33 Duplication Singles out a Ciliopathy Gene TULP3 as a Candidate for RP

2013 Investigative Ophthalmology & Visual Science
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Obesity leads to higher risk of sperm DNA damage in infertile patients

2013 Asian Journal of Andrology
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COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.

2013 American Journal of Medical Genetics Part A
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Pre‐ and postnatal phenotype of 6p25 deletions involving the FOXC1 gene

2012 American Journal of Medical Genetics Part A
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Citations (23)