Search

Author/Creator Campeau, Philippe M.

2. Adult presentation of X‐linked Conradi‐Hünermann‐Happle syndrome. (2nd April 2015)

Authors:
Posey, Jennifer E.; Burrage, Lindsay C.; Campeau, Philippe M.; Lu, James T.; Eble, Tanya N.; Kratz, Lisa; Schlesinger, Alan E.; Gibbs, Richard A.; Lee, Brendan H.; Nagamani, Sandesh C.S.
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 6(2015:Jun.)
Page Start:
1309
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Issue 3 (26th November 2016)

Authors:
Machol, Keren; Jain, Mahim; Almannai, Mohammed; Orand, Thibault; Lu, James T.; Tran, Alyssa; Chen, Yuqing; Schlesinger, Alan; Gibbs, Richard; Bonafe, Luisa; Campos‐Xavier, Ana Belinda; Unger, Sheila; Superti‐Furga, Andrea; Lee, Brendan H.; Campeau, Philippe M.; Burrage, Lindsay C.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 3(2017)
Page Start:
733
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. 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) ↗

10. 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) ↗