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Author/Creator Limongelli, Ivan

1. A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events. (23rd February 2015)

Authors:
Decio, Alice; Tonduti, Davide; Pichiecchio, Anna; Vetro, Annalisa; Ciccone, Roberto; Limongelli, Ivan; Giorda, Roberto; Caffi, Lorella; Balottin, Umberto; Zuffardi, Orsetta; Orcesi, Simona
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 4(2015:Apr.)
Page Start:
810
Record Type:
Journal Article
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2. Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI‐5 intellectual disability challenge. Issue 9 (3rd July 2019)

Authors:
Carraro, Marco; Monzon, Alexander Miguel; Chiricosta, Luigi; Reggiani, Francesco; Aspromonte, Maria Cristina; Bellini, Mariagrazia; Pagel, Kymberleigh; Jiang, Yuxiang; Radivojac, Predrag; Kundu, Kunal; Pal, Lipika R.; Yin, Yizhou; Limongelli, Ivan; Andreoletti, Gaia; Moult, John; Wilson, Stephen ...
Editors:
Moult, John; Brenner, Steven E.
Other Names:
Karchin Rachel guestEditor.; Pal Lipika R. specialEditor.
Journal:
Human mutation
Issue:
Volume 40:Issue 9(2019)
Page Start:
1330
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. CardioVAI: An automatic implementation of ACMG‐AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases. Issue 12 (19th October 2018)

Authors:
Nicora, Giovanna; Limongelli, Ivan; Gambelli, Patrick; Memmi, Mirella; Malovini, Alberto; Mazzanti, Andrea; Napolitano, Carlo; Priori, Silvia; Bellazzi, Riccardo
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
1835
Record Type:
Journal Article
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5. Loss‐of‐Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. Issue 5 (7th April 2015)

Authors:
Vetro, Annalisa; Iascone, Maria; Limongelli, Ivan; Ameziane, Najim; Gana, Simone; Mina, Erika Della; Giussani, Ursula; Ciccone, Roberto; Forlino, Antonella; Pezzoli, Laura; Rooimans, Martin A.; van Essen, Antoni J.; Messa, Jole; Rizzuti, Tommaso; Bianchi, Paolo; Dorsman, Josephine; de Winter, Joh...
Journal:
Human mutation
Issue:
Volume 36:Issue 5(2015:May)
Page Start:
562
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗