1. An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination. (31st August 2020) Authors: Peterman, Leia A.; Vance, Gail H.; Conboy, Erin E.; Anderson, Katelynn; Weaver, David D. Other Names: Paracchini Silvia Academic Editor. Journal: Case reports in gastrointestinal medicine Issue: Volume 2020(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly. (8th December 2016) Authors: Kale, Trupti; Philip, Melissa Other Names: Paracchini Silvia Academic Editor. Journal: Case reports in genetics Issue: Volume 2016(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children. (9th September 2018) Authors: Shenoy, Rathika Damodara; Shenoy, Vijaya; Shetty, Vikram Other Names: Paracchini Silvia Academic Editor. Journal: Case reports in genetics Issue: Volume 2018(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cytogenomic Abnormalities in 19 Cases of Salivary Gland Tumors of Parotid Gland Origin. (2nd December 2020) Authors: Zerjav, Marie; DiAdamo, Autumn; Grommisch, Brittany; Katherine, Amato; Chai, Hongyan; Peng, Gang; Li, Peining Other Names: Paracchini Silvia Academic Editor. Journal: Case reports in genetics Issue: Volume 2020(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene. (12th December 2018) Authors: Wakil, Salma M.; Monies, Dorota; Hagos, Samya; Al-Ajlan, Fahad; Finsterer, Josef; Al Qahtani, Aisha; Ramzan, Khushnooda; Al Humaidy, Rawan; Al-Muhaizea, Mohamed A.; Meyer, Brian; Bohlega, Saeed A. Other Names: Paracchini Silvia Academic Editor. Journal: Case reports in genetics Issue: Volume 2018(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review. (20th August 2020) Authors: Choi, Jamie H.; Li, Rachel; Gannaway, Rachel; Causey, Tahnee N.; Harrison, Anna; Couser, Natario L. Other Names: Paracchini Silvia Academic Editor. Journal: Case reports in genetics Issue: Volume 2020(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Neoplasia in Cri du Chat Syndrome from Italian and German Databases. (24th April 2017) Authors: Guala, Andrea; Spunton, Marianna; Kalantari, Silvia; Kennerknecht, Ingo; Danesino, Cesare Other Names: Paracchini Silvia Academic Editor. Journal: Case reports in genetics Issue: Volume 2017(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Total Anomalous Pulmonary Venous Connection in Mother and Son with a Central 22q11.2 Microdeletion. (11th June 2021) Authors: Faurschou, Signe; Lildballe, Dorte L.; Maroun, Lisa L.; Helvind, Morten; Rasmussen, Maria Other Names: Paracchini Silvia Academic Editor. Journal: Case reports in genetics Issue: Volume 2021(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome. (28th December 2019) Authors: Petter, Cristian; Moreira, Lilia Maria Azevedo; Riegel, Mariluce Other Names: Paracchini Silvia Academic Editor. Journal: Case reports in genetics Issue: Volume 2019(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗