檢索結果 - Dionne‐Laporte, Alexandre

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

Kaufman Oculo-cerebro-facial Syndrome in a child with small and absent terminal phalanges and absent nails 由 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

獲取全文 獲取全文 獲取全文

Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia 由 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.

獲取全文 獲取全文 獲取全文

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report 由 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

獲取全文 獲取全文 獲取全文

Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report 由 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

獲取全文 獲取全文 獲取全文

Triple A syndrome presenting as complicated hereditary spastic paraplegia 由 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

獲取全文 獲取全文 獲取全文

Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression 由 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.

獲取全文 獲取全文 獲取全文

Increased Missense Mutation Burden of Fatty Acid Metabolism Related Genes in Nunavik Inuit Population 由 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.

獲取全文 獲取全文 獲取全文

Whole exome sequencing identifies novel predisposing genes in neural tube defects 由 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

獲取全文 獲取全文 獲取全文

Identification of a rare BMP pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing 由 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

獲取全文 獲取全文 獲取全文

De novo variants in sporadic cases of childhood onset schizophrenia 由 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

獲取全文 獲取全文 獲取全文

Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum 由 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

獲取全文 獲取全文 獲取全文

Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population 由 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.

獲取全文 獲取全文 獲取全文

De Novo Mutations in Moderate or Severe Intellectual Disability 由 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.

獲取全文 獲取全文 獲取全文

Global characterization of copy number variants in epilepsy patients from whole genome sequencing 由 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

獲取全文 獲取全文 獲取全文

RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population 由 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.

獲取全文 獲取全文 獲取全文

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy 由 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

獲取全文 獲取全文 獲取全文