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Amale Ichkou

Necker-Enfants Malades Hospital

11

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251

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Whole exome sequencing diagnoses the first fetal case of Bainbridge‐Ropers syndrome presenting as pontocerebellar hypoplasia type 1

2018 Birth defects research
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Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies

2018 American Journal of Medical Genetics Part A
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Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.

2016 Birth Defects Research Part A-clinical and Molecular Teratology
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A novel KIF7 mutation in two affected siblings with acrocallosal syndrome

2015 Clinical Dysmorphology
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Du séquençage haut débit au phénotype : intérêt majeur de l’examen fœtopathologique dans l’exploration des anomalies du corps calleux

2015 Morphologie
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Erratum: Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome (American Journal of Human Genetics (2015) 97 (311-318))

2015 American Journal of Human Genetics
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Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

2012 Journal of Medical Genetics
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Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations

2012 Journal of Medical Genetics
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High‐throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

2010 Human Mutation
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