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Boycott, K.M.
~ 300  results:
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1

EE171 Time to Diagnosis and Cost Effectiveness of Whole Exo..:

Degeling, K. ; Hayeems, R.Z. ; Tagimacruz, T....
Value in Health.  26 (2023)  6 - p. S90 , 2023
Link: https://doi.org/10.1016/..
 
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2

The genetic landscape of hereditary spastic paraplegia in C..:

Estiar, M.A. ; Yu, E. ; Ruskey, J.A....
Parkinsonism & Related Disorders.  79 (2020)  - p. e110 , 2020
Link: https://doi.org/10.1016/..
 
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3

A ZPR1 mutation is associated with a novel syndrome of grow..:

Ito, Y.A. ; Smith, A.C. ; Kernohan, K.D....
Clinical Genetics.  94 (2018)  3-4 - p. 303-312 , 2018
Link: https://doi.org/10.1111/..
 
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4

Expansion of the GLE1‐associated arthrogryposis multiplex c..:

Smith, C. ; Parboosingh, J.S. ; Boycott, K.M....
Clinical Genetics.  91 (2017)  3 - p. 426-430 , 2017
Link: https://doi.org/10.1111/..
 
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5

Two females with mutations in USP9X highlight the variable ..:

Au, P.Y.B. ; Huang, L. ; Broley, S....
European Journal of Medical Genetics.  60 (2017)  7 - p. 359-364 , 2017
Link: https://doi.org/10.1016/..
 
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6

A novel mutation in LAMC3 associated with generalized polym..:

Care4Rare Canada Consortium ; Zambonin, J. L. ; Dyment, D. A....
neurogenetics.  19 (2017)  1 - p. 61-65 , 2017
Link: https://doi.org/10.1007/..
 
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7

Debunking Occam's razor: Diagnosing multiple genetic diseas..:

Balci, T.B. ; Hartley, T. ; Xi, Y....
Clinical Genetics.  92 (2017)  3 - p. 281-289 , 2017
Link: https://doi.org/10.1111/..
 
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8

Whole‐exome sequencing is a valuable diagnostic tool for in..:

Hartley, T. ; Wagner, J.D. ; Warman‐Chardon, J....
Clinical Genetics.  93 (2017)  2 - p. 301-309 , 2017
Link: https://doi.org/10.1111/..
 
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9

Autosomal dominant cutis laxa with progeroid features due t..:

Bhola, Priya T ; Hartley, Taila ; Bareke, Eric...
Journal of Human Genetics.  62 (2017)  6 - p. 661-663 , 2017
Link: https://doi.org/10.1038/..
 
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10

Mining the transcriptome for rare disease therapies: a comp..:

Mears, A. J. ; Schock, S. C. ; Hadwen, J....
npj Genomic Medicine.  2 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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11

Autosomal recessive mutations in THOC6 cause intellectual d..:

Amos, J.S. ; Huang, L. ; Thevenon, J....
Clinical Genetics.  91 (2016)  1 - p. 92-99 , 2016
Link: https://doi.org/10.1111/..
 
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12

Loss of the arginine methyltranserase PRMT7 causes syndromi..:

Kernohan, K.D. ; McBride, A. ; Xi, Y....
Clinical Genetics.  91 (2016)  5 - p. 708-716 , 2016
Link: https://doi.org/10.1111/..
 
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13

LIMS2 mutations are associated with a novel muscular dystro..:

Chardon, Jodi Warman ; Smith, A.C. ; Woulfe, J....
Clinical Genetics.  88 (2015)  6 - p. 558-564 , 2015
Link: https://doi.org/10.1111/..
 
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14

Whole‐exome sequencing broadens the phenotypic spectrum of ..:

Dyment, D.A. ; Tétreault, M. ; Beaulieu, C.L....
Clinical Genetics.  88 (2014)  1 - p. 34-40 , 2014
Link: https://doi.org/10.1111/..
 
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15

Evidence for clinical, genetic and biochemical variability ..:

Dyment, D.A. ; Sell, E. ; Vanstone, M.R....
Clinical Genetics.  86 (2013)  6 - p. 558-563 , 2013
Link: https://doi.org/10.1111/..
 
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