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A mutation in the RNF170 gene causes autosomal dominant sensory ataxia. [electronic resource] by
- Valdmanis, Paul N
- Dupré, Nicolas
- Lachance, Mathieu
- Stochmanski, Shawn J
- Belzil, Veronique V
- Dion, Patrick A
- Thiffault, Isabelle
- Brais, Bernard
- Weston, Lyle
- Saint-Amant, Louis
- Samuels, Mark E
- Rouleau, Guy A
Producer: 20110411
In:
Brain : a journal of neurology vol. 134
Availability: No items available.
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7.
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The genetic landscape of infantile spasms. [electronic resource] by
- Michaud, Jacques L
- Lachance, Mathieu
- Hamdan, Fadi F
- Carmant, Lionel
- Lortie, Anne
- Diadori, Paola
- Major, Philippe
- Meijer, Inge A
- Lemyre, Emmanuelle
- Cossette, Patrick
- Mefford, Heather C
- Rouleau, Guy A
- Rossignol, Elsa
Producer: 20150423
In:
Human molecular genetics vol. 23
Availability: No items available.
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8.
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Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. [electronic resource] by
- Jiang, Xiao
- Raju, Praveen K
- D'Avanzo, Nazzareno
- Lachance, Mathieu
- Pepin, Julie
- Dubeau, François
- Mitchell, Wendy G
- Bello-Espinosa, Luis E
- Pierson, Tyler M
- Minassian, Berge A
- Lacaille, Jean-Claude
- Rossignol, Elsa
Producer: 20200414
In:
Epilepsia vol. 60
Availability: No items available.
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9.
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Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. [electronic resource] by
- Guernsey, Duane L
- Jiang, Haiyan
- Campagna, Dean R
- Evans, Susan C
- Ferguson, Meghan
- Kellogg, Mark D
- Lachance, Mathieu
- Matsuoka, Makoto
- Nightingale, Mathew
- Rideout, Andrea
- Saint-Amant, Louis
- Schmidt, Paul J
- Orr, Andrew
- Bottomley, Sylvia S
- Fleming, Mark D
- Ludman, Mark
- Dyack, Sarah
- Fernandez, Conrad V
- Samuels, Mark E
Producer: 20101104
In:
Nature genetics vol. 41
Availability: No items available.
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