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Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly. [electronic resource] by
- Kernohan, K D
- McBride, A
- Xi, Y
- Martin, N
- Schwartzentruber, J
- Dyment, D A
- Majewski, J
- Blaser, S
- Boycott, K M
- Chitayat, D
Producer: 20170602
In:
Clinical genetics vol. 91
Availability: No items available.
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Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar. [electronic resource] by
- Fahiminiya, S
- Almuriekhi, M
- Nawaz, Z
- Staffa, A
- Lepage, P
- Ali, R
- Hashim, L
- Schwartzentruber, J
- Abu Khadija, K
- Zaineddin, S
- Gamal, H
- Majewski, J
- Ben-Omran, T
Producer: 20150312
In:
Clinical genetics vol. 86
Availability: No items available.
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WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. [electronic resource] by
- Coussa, R G
- Otto, E A
- Gee, H-Y
- Arthurs, P
- Ren, H
- Lopez, I
- Keser, V
- Fu, Q
- Faingold, R
- Khan, A
- Schwartzentruber, J
- Majewski, J
- Hildebrandt, F
- Koenekoop, R K
Producer: 20140221
In:
Clinical genetics vol. 84
Availability: No items available.
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LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. [electronic resource] by
- Chardon, Jodi Warman
- Smith, A C
- Woulfe, J
- Pena, E
- Rakhra, K
- Dennie, C
- Beaulieu, C
- Huang, Lijia
- Schwartzentruber, J
- Hawkins, C
- Harms, M B
- Dojeiji, S
- Zhang, M
- Majewski, J
- Bulman, D E
- Boycott, K M
- Dyment, D A
Producer: 20160831
In:
Clinical genetics vol. 88
Availability: No items available.
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Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. [electronic resource] by
- Dyment, D A
- Tétreault, M
- Beaulieu, C L
- Hartley, T
- Ferreira, P
- Chardon, J W
- Marcadier, J
- Sawyer, S L
- Mosca, S J
- Innes, A M
- Parboosingh, J S
- Bulman, D E
- Schwartzentruber, J
- Majewski, J
- Tarnopolsky, M
- Boycott, K M
Producer: 20160302
In:
Clinical genetics vol. 88
Availability: No items available.
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Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. [electronic resource] by
- Dyment, D A
- Sell, E
- Vanstone, M R
- Smith, A C
- Garandeau, D
- Garcia, V
- Carpentier, S
- Le Trionnaire, E
- Sabourdy, F
- Beaulieu, C L
- Schwartzentruber, J A
- McMillan, H J
- Majewski, J
- Bulman, D E
- Levade, T
- Boycott, K M
Producer: 20150724
In:
Clinical genetics vol. 86
Availability: No items available.
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Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing. [electronic resource] by
- Balci, T B
- Hartley, T
- Xi, Y
- Dyment, D A
- Beaulieu, C L
- Bernier, F P
- Dupuis, L
- Horvath, G A
- Mendoza-Londono, R
- Prasad, C
- Richer, J
- Yang, X-R
- Armour, C M
- Bareke, E
- Fernandez, B A
- McMillan, H J
- Lamont, R E
- Majewski, J
- Parboosingh, J S
- Prasad, A N
- Rupar, C A
- Schwartzentruber, J
- Smith, A C
- Tétreault, M
- Innes, A M
- Boycott, K M
Producer: 20180430
In:
Clinical genetics vol. 92
Availability: No items available.
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Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. [electronic resource] by
- Sawyer, S L
- Hartley, T
- Dyment, D A
- Beaulieu, C L
- Schwartzentruber, J
- Smith, A
- Bedford, H M
- Bernard, G
- Bernier, F P
- Brais, B
- Bulman, D E
- Warman Chardon, J
- Chitayat, D
- Deladoëy, J
- Fernandez, B A
- Frosk, P
- Geraghty, M T
- Gerull, B
- Gibson, W
- Gow, R M
- Graham, G E
- Green, J S
- Heon, E
- Horvath, G
- Innes, A M
- Jabado, N
- Kim, R H
- Koenekoop, R K
- Khan, A
- Lehmann, O J
- Mendoza-Londono, R
- Michaud, J L
- Nikkel, S M
- Penney, L S
- Polychronakos, C
- Richer, J
- Rouleau, G A
- Samuels, M E
- Siu, V M
- Suchowersky, O
- Tarnopolsky, M A
- Yoon, G
- Zahir, F R
- Majewski, J
- Boycott, K M
Producer: 20161213
In:
Clinical genetics vol. 89
Availability: No items available.
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