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Maria Luisa Giovannucci Uzielli

University of Florence

26

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1450

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Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome

2020 American Journal of Medical Genetics Part A
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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

2017 PLOS Genetics
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De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

2015 bioRxiv
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De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

2015 American Journal of Human Genetics
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Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

2014 American Journal of Human Genetics
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Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5

2014
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Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome

2013 American Journal of Human Genetics
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Two novel patients with Bohring–Opitz syndrome caused by de novo ASXL1 mutations

2012 American Journal of Medical Genetics Part A
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Clinical and molecular cytogenetic studies in ring chromosome 5: Report of a child with congenital abnormalities

2012 European Journal of Medical Genetics
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Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

2010 Journal of Medical Genetics
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Citations (53)