Kết quả tìm kiếm - Dionne‐Laporte, Alexandre

Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum Bằng Noreau, Anne, Beauchemin, Philippe, Dionne-Laporte, Alexandre, Dion, Patrick A, Rouleau, Guy A, Dupré, Nicolas

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Screening of novel restless legs syndrome–associated genes in French-Canadian families Bằng Akçimen, Fulya, Spiegelman, Dan, Dionne-Laporte, Alexandre, Gan-Or, Ziv, Dion, Patrick A., Rouleau, Guy A.

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Machine learning analysis of exome trios to contrast the genomic architecture of autism and schizophrenia Bằng Sardaar, Sameer, Qi, Bill, Dionne-Laporte, Alexandre, Rouleau, Guy. A., Rabbany, Reihaneh, Trakadis, Yannis J.

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Genetic architecture and adaptations of Nunavik Inuit Bằng Zhou, Sirui, Xie, Pingxing, Quoibion, Amélie, Ambalavanan, Amirthagowri, Dionne-Laporte, Alexandre, Spiegelman, Dan, Bourassa, Cynthia V., Xiong, Lan, Dion, Patrick A., Rouleau, Guy A.

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Kaufman Oculo-cerebro-facial Syndrome in a child with small and absent terminal phalanges and absent nails Bằng Kariminejad, Ariana, Ajeawung, Norbert Fonya, Bozorgmehr, Bita, Dionne-Laporte, Alexandre, Molidperee, Sirinart, Najafi, Kimia, Gibbs, Richard A, Lee, Brendan H, Hennekam, Raoul C, Campeau, Philippe M

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Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia Bằng Chaumette, Boris, Ferrafiat, Vladimir, Ambalavanan, Amirthagowri, Goldenberg, Alice, Dionne-Laporte, Alexandre, Spiegelman, Dan, Dion, Patrick A., Gerardin, Priscille, Laurent, Claudine, Cohen, David, Rapoport, Judith, Rouleau, Guy A.

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Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report Bằng Lyahyai, Jaber, Oulad Amar Bencheikh, Bouchra, Elalaoui, Siham C., Mansouri, Maria, Boualla, Lamia, DIonne-Laporte, Alexandre, Spiegelman, Dan, Dion, Patrick A., Cossette, Patrick, Rouleau, Guy A., Sefiani, Abdelaziz

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Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report Bằng Lyahyai, Jaber, Bencheikh, Bouchra Ouled Amar, Elalaoui, Siham C., Mansouri, Maria, Boualla, Lamia, DIonne-Laporte, Alexandre, Spiegelman, Dan, Dion, Patrick A., Cossette, Patrick, Rouleau, Guy A., Sefiani, Abdelaziz

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Triple A syndrome presenting as complicated hereditary spastic paraplegia Bằng Leveille, Etienne, Gonorazky, Hernan D., Rioux, Marie‐France, Hazrati, Lili‐Naz, Ruskey, Jennifer A., Carnevale, Amanda, Spiegelman, Dan, Dionne‐Laporte, Alexandre, Rouleau, Guy A., Yoon, Grace, Gan‐Or, Ziv

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Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression Bằng Sarayloo, Faezeh, Dionne-Laporte, Alexandre, Catoire, Helene, Rochefort, Daniel, Houle, Gabrielle, Ross, Jay P., Akçimen, Fulya, Barros Oliveira, Rachel De, Turecki, Gustavo, Dion, Patrick A., Rouleau, Guy A.

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Increased Missense Mutation Burden of Fatty Acid Metabolism Related Genes in Nunavik Inuit Population Bằng Zhou, Sirui, Xiong, Lan, Xie, Pingxing, Ambalavanan, Amirthagowri, Bourassa, Cynthia V., Dionne-Laporte, Alexandre, Spiegelman, Dan, Turcotte Gauthier, Maude, Henrion, Edouard, Diallo, Ousmane, Dion, Patrick A., Rouleau, Guy A.

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Whole exome sequencing identifies novel predisposing genes in neural tube defects Bằng Lemay, Philippe, De Marco, Patrizia, Traverso, Monica, Merello, Elisa, Dionne‐Laporte, Alexandre, Spiegelman, Dan, Henrion, Édouard, Diallo, Ousmane, Audibert, François, Michaud, Jacques L., Cama, Armando, Rouleau, Guy A., Kibar, Zoha, Capra, Valeria

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Identification of a rare BMP pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing Bằng Walcott, Brian P, Winkler, Ethan A, Zhou, Sirui, Birk, Harjus, Guo, Diana, Koch, Matthew J, Stapleton, Christopher J, Spiegelman, Dan, Dionne-Laporte, Alexandre, Dion, Patrick A, Kahle, Kristopher T, Rouleau, Guy A, Lawton, Michael T

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De novo variants in sporadic cases of childhood onset schizophrenia Bằng Ambalavanan, Amirthagowri, Girard, Simon L, Ahn, Kwangmi, Zhou, Sirui, Dionne-Laporte, Alexandre, Spiegelman, Dan, Bourassa, Cynthia V, Gauthier, Julie, Hamdan, Fadi F, Xiong, Lan, Dion, Patrick A, Joober, Ridha, Rapoport, Judith, Rouleau, Guy A

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Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum Bằng Jouan, Loubna, Ouled Amar Bencheikh, Bouchra, Daoud, Hussein, Dionne-Laporte, Alexandre, Dobrzeniecka, Sylvia, Spiegelman, Dan, Rochefort, Daniel, Hince, Pascale, Szuto, Anna, Lassonde, Maryse, Barbelanne, Marine, Tsang, William Y, Dion, Patrick A, Théoret, Hugo, Rouleau, Guy A

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Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population Bằng Zhou, Sirui, Gan-Or, Ziv, Ambalavanan, Amirthagowri, Lai, Dongbing, Xie, Pingxing, Bourassa, Cynthia V., Strong, Stephanie, Ross, Jay P., Dionne-Laporte, Alexandre, Spiegelman, Dan, Dupré, Nicolas, Foroud, Tatiana M, Xiong, Lan, Dion, Patrick A., Rouleau, Guy A.

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De Novo Mutations in Moderate or Severe Intellectual Disability Bằng Hamdan, Fadi F., Srour, Myriam, Capo-Chichi, Jose-Mario, Daoud, Hussein, Nassif, Christina, Patry, Lysanne, Massicotte, Christine, Ambalavanan, Amirthagowri, Spiegelman, Dan, Diallo, Ousmane, Henrion, Edouard, Dionne-Laporte, Alexandre, Fougerat, Anne, Pshezhetsky, Alexey V., Venkateswaran, Sunita, Rouleau, Guy A., Michaud, Jacques L.

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Global characterization of copy number variants in epilepsy patients from whole genome sequencing Bằng Monlong, Jean, Girard, Simon L., Meloche, Caroline, Cadieux-Dion, Maxime, Andrade, Danielle M., Lafreniere, Ron G., Gravel, Micheline, Spiegelman, Dan, Dionne-Laporte, Alexandre, Boelman, Cyrus, Hamdan, Fadi F., Michaud, Jacques L., Rouleau, Guy, Minassian, Berge A., Bourque, Guillaume, Cossette, Patrick

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RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population Bằng Zhou, Sirui, Ambalavanan, Amirthagowri, Rochefort, Daniel, Xie, Pingxing, Bourassa, Cynthia V., Hince, Pascale, Dionne-Laporte, Alexandre, Spiegelman, Dan, Gan-Or, Ziv, Mirarchi, Cathy, Zaharieva, Vessela, Dupré, Nicolas, Kobayashi, Hatasu, Hitomi, Toshiaki, Harada, Kouji, Koizumi, Akio, Xiong, Lan, Dion, Patrick A., Rouleau, Guy A.

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Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy Bằng Kahle, Kristopher T, Merner, Nancy D, Friedel, Perrine, Silayeva, Liliya, Liang, Bo, Khanna, Arjun, Shang, Yuze, Lachance-Touchette, Pamela, Bourassa, Cynthia, Levert, Annie, Dion, Patrick A, Walcott, Brian, Spiegelman, Dan, Dionne-Laporte, Alexandre, Hodgkinson, Alan, Awadalla, Philip, Nikbakht, Hamid, Majewski, Jacek, Cossette, Patrick, Deeb, Tarek Z, Moss, Stephen J, Medina, Igor, Rouleau, Guy A

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