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Author/Creator Bedeschi, Maria F.

1. (Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith–Wiedemann syndrome. Issue 9 (6th July 2020)

Authors:
Fontana, Laura; Bedeschi, Maria F.; Cagnoli, Giulia A.; Costanza, Jole; Persico, Nicola; Gangi, Silvana; Porro, Matteo; Ajmone, Paola F.; Colapietro, Patrizia; Santaniello, Carlo; Crippa, Milena; Sirchia, Silvia M.; Miozzo, Monica; Tabano, Silvia
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 9(2020)
Page Start:
n/a
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum. (January 2017)

Authors:
Romaniello, Romina; Marelli, Susan; Giorda, Roberto; Bedeschi, Maria F.; Bonaglia, Maria C.; Arrigoni, Filippo; Triulzi, Fabio; Bassi, Maria T.; Borgatti, Renato
Journal:
Journal of child neurology
Issue:
Volume 32:Number 1(2017:Jan.)
Page Start:
60
Record Type:
Journal Article
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3. Phenotype delineation of ZNF462 related syndrome. Issue 10 (30th July 2019)

Authors:
Kruszka, Paul; Hu, Tommy; Hong, Sungkook; Signer, Rebecca; Cogné, Benjamin; Isidor, Betrand; Mazzola, Sarah E.; Giltay, Jacques C.; van Gassen, Koen L. I.; England, Eleina M.; Pais, Lynn; Ockeloen, Charlotte W.; Sanchez‐Lara, Pedro A.; Kinning, Esther; Adams, Darius J.; Treat, Kayla; Torres‐Marti...
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 10(2019)
Page Start:
2075
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. STAR syndrome plus: The first description of a female patient with the lethal form. Issue 12 (31st October 2017)

Authors:
Bedeschi, Maria F.; Giangiobbe, Sara; Paganini, Leda; Tabano, Silvia; Silipigni, Rosamaria; Colombo, Lorenzo; Crippa, Beatrice L.; Lalatta, Faustina; Guerneri, Silvana; Miozzo, Monica
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 12(2017)
Page Start:
3226
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗