Ghent University Academic Bibliography

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Your filters: cql: author="Perazzolo, Camille*" or (type exact bookEditor and editor="Perazzolo, Camille*")

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Congenital hydrocephalus : new Mendelian mutations and evidence for oligogenic inheritance

Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Camille Perazzolo, Nicolas Deconinck (UGent) , Elise Brischoux-Boucher, Anne De Leener, Nicole Revencu, et al.

(2023) HUMAN GENOMICS. 17(1).
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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, et al.

(2021) MOLECULAR GENETICS & GENOMIC MEDICINE. 9(9).
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Severe congenital microcephaly with AP4M1 mutation, a case report

Sarah Duerinckx, Helene Verhelst (UGent) , Camille Perazzolo, Philippe David, Laurence Desmyter, Isabelle Pirson and Marc Abramowicz

(2017) BMC MEDICAL GENETICS. 18.
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A familial heterozygous null mutation of MET in autism spectrum disorder

Nelle Lambert, Vanessa Wermenbol, Bruno Pichon, Sandra Acosta, Jelle van den Ameele (UGent) , Camille Perazzolo, Diana Messina, Maria-Franca Musumeci, Barbara Dessars, Anne De Leener, et al.

(2014) AUTISM RESEARCH. 7(5). p.617-622
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FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

Nicolas Simonis, Isabelle Migeotte, Nelle Lambert, Camille Perazzolo, Deepthi C de Silva, Boyan Dimitrov, Claudine Heinrichs, Sandra Janssens (UGent) , Bronwyn Kerr, Geert Mortier, et al.

(2013) JOURNAL OF MEDICAL GENETICS. 50(9). p.585-592

Academic Bibliography

Congenital hydrocephalus : new Mendelian mutations and evidence for oligogenic inheritance

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

Severe congenital microcephaly with AP4M1 mutation, a case report

A familial heterozygous null mutation of MET in autism spectrum disorder

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

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