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Beaulieu, Chandree L.
54
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Online (54)
Mediatypes
Articles (Online) (27)
OpenAccess-fulltext (27)
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1
A family segregating lethal neonatal coenzyme Q10 deficienc..:
Smith, Amanda C.
;
Ito, Yoko
;
Ahmed, Afsana
...
Journal of Inherited Metabolic Disease. 41 (2018) 4 - p. 719-729 , 2018
Link:
https://doi.org/10.1007/..
?
2
Clinical and functional characterization of recurrent misse..:
Mattioli, Francesca
;
Isidor, Bertrand
;
Abdul-Rahman, Omar
...
Human Molecular Genetics. 28 (2018) 6 - p. 952-960 , 2018
Link:
https://doi.org/10.1093/..
?
3
Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa W..:
Evans, Daniel R.
;
Green, Jane S.
;
Johnson, Gordon J.
...
Investigative Opthalmology & Visual Science. 58 (2017) 3 - p. 1736 , 2017
Link:
https://doi.org/10.1167/..
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4
Response to correspondence of NDUFS4‐related Leigh syndrome..:
Lamont, Ryan E.
;
Beaulieu, Chandree L.
;
Bernier, Francois P.
...
American Journal of Medical Genetics Part A. 173 (2017) 5 - p. 1452-1452 , 2017
Link:
https://doi.org/10.1002/..
?
5
A novel NDUFS4 frameshift mutation causes Leigh disease in ..:
Lamont, Ryan E.
;
Beaulieu, Chandree L.
;
Bernier, Francois P.
...
American Journal of Medical Genetics Part A. 173 (2016) 3 - p. 596-600 , 2016
Link:
https://doi.org/10.1002/..
?
6
Axons to Exons: the Molecular Diagnosis of Rare Neurologica..:
Warman Chardon, Jodi
;
Beaulieu, Chandree
;
Hartley, Taila
..
Current Neurology and Neuroscience Reports. 15 (2015) 9 - p. , 2015
Link:
https://doi.org/10.1007/..
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7
PhenomeCentral: A Portal for Phenotypic and Genotypic Match..:
Buske, Orion J.
;
Girdea, Marta
;
Dumitriu, Sergiu
...
Human Mutation. 36 (2015) 10 - p. 931-940 , 2015
Link:
https://doi.org/10.1002/..
?
8
Whole exome sequencing identifies the TNNI3K gene as a caus..:
Xi, Yanwei
;
Honeywell, Christina
;
Zhang, Dapeng
...
International Journal of Cardiology. 185 (2015) - p. 114-116 , 2015
Link:
https://doi.org/10.1016/..
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9
A novel mutation in two Hmong families broadens the range o..:
Marcadier, Julien L.
;
Mears, Alan J.
;
Woods, Elizabeth A.
...
American Journal of Medical Genetics Part A. 170 (2015) 1 - p. 11-18 , 2015
Link:
https://doi.org/10.1002/..
?
10
Homozygous nonsense mutation in SYNJ1 associated with intra..:
Dyment, David A.
;
Smith, Amanda C.
;
Humphreys, Peter
...
Neurobiology of Aging. 36 (2015) 2 - p. 1222.e1-1222.e5 , 2015
Link:
https://doi.org/10.1016/..
?
11
The utility of exome sequencing for genetic diagnosis in a ..:
McDonell, Laura M
;
Warman Chardon, Jodi
;
Schwartzentruber, Jeremy
...
BMC Neurology. 14 (2014) 1 - p. , 2014
Link:
https://doi.org/10.1186/..
?
12
Identification of Genes for Childhood Heritable Diseases:
Boycott, Kym M.
;
Dyment, David A.
;
Sawyer, Sarah L.
..
Annual Review of Medicine. 65 (2014) 1 - p. 19-31 , 2014
Link:
https://doi.org/10.1146/..
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13
Exome Sequencing Identifies PINCH2 Mutations in Early Onset..:
Warman Chardon, Jodi
;
Smith, Amanda
;
Woulfe, John
...
Neurology. 82 (2014) 10_supplement - p. , 2014
Link:
https://doi.org/10.1212/..
?
14
Whole‐exome sequencing in an individual with severe global ..:
Venkateswaran, Sunita
;
Myers, Ken A.
;
Smith, Amanda C.
...
Epilepsia. 55 (2014) 7 - p. , 2014
Link:
https://doi.org/10.1111/..
?
15
Compound heterozygous mutations in glycyl-tRNA synthetase a..:
McMillan, Hugh J
;
Schwartzentruber, Jeremy
;
Smith, Amanda
...
BMC Medical Genetics. 15 (2014) 1 - p. , 2014
Link:
https://doi.org/10.1186/..
1-15