Search

Author/Creator Bareke, Eric

3. Does the adenosine deaminase (ADA) gene confer risk of sleepwalking?. (15th December 2021)

Authors:
Fournier, Simon; Dauvilliers, Yves; Warby, Simon C.; Labrecque, Marjorie; Zadra, Antonio; Boucetta, Soufiane; El Gewely, Maryam; Kaddioui, Houda; Lopez, Régis; Montplaisir, Jacques Y.; Bareke, Eric; Tétreault, Martine; Desautels, Alex
Journal:
Journal of sleep research
Issue:
Volume 31:Number 4(2022)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature. Issue 6 (3rd August 2020)

Authors:
Johnstone, Devon L.; Nguyen, Thi Tuyet Mai; Zambonin, Jessica; Kernohan, Kristin D.; St‐Denis, Anik; Baratang, Nissan V.; Hartley, Taila; Geraghty, Michael T.; Richer, Julie; Majewski, Jacek; Bareke, Eric; Guerin, Andrea; Pendziwiat, Manuela; Pena, Loren D. M.; Braakman, Hilde M. H.; Gripp, Karen...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 6(2020)
Page Start:
1321
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature. Issue 6 (3rd August 2020)

Authors:
Johnstone, Devon L.; Nguyen, Thi Tuyet Mai; Zambonin, Jessica; Kernohan, Kristin D.; St‐Denis, Anik; Baratang, Nissan V.; Hartley, Taila; Geraghty, Michael T.; Richer, Julie; Majewski, Jacek; Bareke, Eric; Guerin, Andrea; Pendziwiat, Manuela; Pena, Loren D. M.; Braakman, Hilde M. H.; Gripp, Karen...
Other Names:
Acosta Maria T. investigator.; Adam Margaret investigator.; Adams David R. investigator.; Agrawal Pankaj B. investigator.; Alejandro Mercedes E. investigator.; Alvey Justin investigator.; Amendola Laura investigator.; Andrews Ashley investigator.; Ashley Euan A. investigator.; Azamian Mahshid S. ...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 6(2020)
Page Start:
1321
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53. Issue 9 (18th February 2021)

Authors:
Beauchamp, Marie-Claude; Djedid, Anissa; Bareke, Eric; Merkuri, Fjodor; Aber, Rachel; Tam, Annie S; Lines, Matthew A; Boycott, Kym M; Stirling, Peter C; Fish, Jennifer L; Majewski, Jacek; Jerome-Majewska, Loydie A
Journal:
Human molecular genetics
Issue:
Volume 30:Issue 9(2021)
Page Start:
739
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. Neu–Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis. Issue 5 (5th March 2019)

Authors:
Bourque, Danielle K.; Cloutier, Mireille; Kernohan, Kristin D.; Bareke, Eric; Grynspan, David; Michaud, Jean; Boycott, Kym M.
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 5(2019)
Page Start:
813
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. Resolution of refractory hypotension and anuria in a premature newborn with loss‐of‐function of ACE. (21st April 2015)

Authors:
Richer, Julie; Daoud, Hussein; Geier, Pavel; Jarinova, Olga; Carson, Nancy; Feberova, Jana; Fadfel, Nadya Ben; Unrau, Jennifer; Bareke, Eric; Khatchadourian, Karine; Bulman, Dennis E; Majewski, Jacek; Boycott, Kym M; Dyment, David A
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 7(2015:Jul.)
Page Start:
1654
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗