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Author/Creator Chowdhury, Shimul

2. Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome. Issue 7 (2nd June 2021)

Authors:
Friedman, Jennifer; Bird, Lynne M.; Haas, Richard; Robbins, Shira L.; Nahas, Shareef A.; Dimmock, David P.; Yousefzadeh, Matthew J.; Witt, Mariah A.; Niedernhofer, Laura J.; Chowdhury, Shimul
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 9:Issue 7(2021)
Page Start:
n/a
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Moving Genomics to Routine Care: An Initial Pilot in Acute Cardiovascular Disease. (October 2020)

Authors:
Aryan, Zahra; Szanto, Attila; Pantazi, Angeliki; Reddi, Tejaswini; Rheinstein, Carolyn; Powers, Winslow; Wilson, Evan; Deo, Rahul C.; Chowdhury, Shimul; Salz, Lisa; Dimmock, David; Nahas, Shareef; Benson, Wendy; Kingsmore, Stephen F.; MacRae, Calum A.; Vuzman, Dana
Journal:
Circulation
Issue:
Volume 13:Number 5(2020)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients. Issue 1 (15th November 2013)

Authors:
Chowdhury, Shimul; Bandholz, Anne M.; Parkash, Sandhya; Dyack, Sarah; Rideout, Andrea L.; Leppig, Kathleen A.; Thiese, Heidi; Wheeler, Patricia G.; Tsang, Marilyn; Ballif, Blake C.; Shaffer, Lisa G.; Torchia, Beth S.; Ellison, Jay W.; Rosenfeld, Jill A.
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 1(2014.)
Page Start:
62
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

6. Whole exome sequencing in patients with white matter abnormalities. Issue 6 (9th May 2016)

Authors:
Vanderver, Adeline; Simons, Cas; Helman, Guy; Crawford, Joanna; Wolf, Nicole I.; Bernard, Geneviève; Pizzino, Amy; Schmidt, Johanna L.; Takanohashi, Asako; Miller, David; Khouzam, Amirah; Rajan, Vani; Ramos, Erica; Chowdhury, Shimul; Hambuch, Tina; Ru, Kelin; Baillie, Gregory J.; Grimmond, Sean M...
Journal:
Annals of neurology
Issue:
Volume 79:Issue 6(2016:Jun.)
Page Start:
1031
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

7. Whole exome sequencing in patients with white matter abnormalities. Issue 6 (9th May 2016)

Authors:
Vanderver, Adeline; Simons, Cas; Helman, Guy; Crawford, Joanna; Wolf, Nicole I.; Bernard, Geneviève; Pizzino, Amy; Schmidt, Johanna L.; Takanohashi, Asako; Miller, David; Khouzam, Amirah; Rajan, Vani; Ramos, Erica; Chowdhury, Shimul; Hambuch, Tina; Ru, Kelin; Baillie, Gregory J.; Grimmond, Sean M...
Other Names:
Gropman Andrea L. investigator.; Rosser Tena investigator.; Pearl Phillip L. investigator.; Fung Eva investigator.; Parikh Sumit investigator.; Cohen Bruce H. investigator.; Reggin James D. investigator.; Yalcinkaya Cengiz investigator.; Shafrir Yuval investigator.; MarcDiFazio investigator.; Fre...
Journal:
Annals of neurology
Issue:
Volume 79:Issue 6(2016:Jun.)
Page Start:
1031
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗