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Beaulieu, Chandree L.
54  Ergebnisse:
Personensuche X
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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/..
 
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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/..
 
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3

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/..
 
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4

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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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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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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10

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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11

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/..
 
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12

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/..
 
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13

FORGE Canada Consortium: Outcomes of a 2-Year National Rare..:

Beaulieu, Chandree L. ; Majewski, Jacek ; Schwartzentruber, Jeremy...
The American Journal of Human Genetics.  94 (2014)  6 - p. 809-817 , 2014
Link: https://doi.org/10.1016/..
 
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14

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/..
 
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15

Congenital Visual Impairment and Progressive Microcephaly D..:

McMillan, Hugh J. ; Humphreys, Peter ; Smith, Amanda...
Journal of Child Neurology.  30 (2014)  8 - p. 1037-1043 , 2014
Link: https://doi.org/10.1177/..
 
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