Kết quả tìm kiếm - Thiffault, Isabelle

Immunodeficiency-Associated Lymphoid Hyperplasia As a Cause of Intussusception in a Case of Activated PI3K-δ Syndrome Bằng Mettman, Daniel, Thiffault, Isabelle, Dinakar, Chitra, Saunders, Carol

lấy văn bản lấy văn bản lấy văn bản

Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in Adults Bằng Michell-Robinson, Mackenzie A., Perrier, Stefanie, Lucia, Cassandra, Tran, Luan T., Thiffault, Isabelle, Köhler, Wolfgang, Bernard, Geneviève

lấy văn bản lấy văn bản lấy văn bản

Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications and neurodegeneration Bằng Macintosh, Julia, Derksen, Alexa, Poulin, Chantal, Braverman, Nancy, Vanderver, Adeline, Thiffault, Isabelle, Albrecht, Steffen, Bernard, Geneviève

lấy văn bản lấy văn bản lấy văn bản

Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing Bằng Thiffault, Isabelle, Atherton, Andrea, Heese, Bryce A., T. Abdelmoity, Ahmed, Pawar, Kailash, Farrow, Emily, Zellmer, Lee, Miller, Neil, Soden, Sarah, Saunders, Carol

lấy văn bản lấy văn bản lấy văn bản

Clinical genome sequencing in an unbiased pediatric cohort Bằng Thiffault, Isabelle, Farrow, Emily, Zellmer, Lee, Berrios, Courtney, Miller, Neil, Gibson, Margaret, Caylor, Raymond, Jenkins, Janda, Faller, Deb, Soden, Sarah, Saunders, Carol

lấy văn bản lấy văn bản lấy văn bản

Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease Bằng Thiffault, Isabelle, Zuccarelli, Britton, Welsh, Holly, Yuan, Xuan, Farrow, Emily, Zellmer, Lee, Miller, Neil, Soden, Sarah, Abdelmoity, Ahmed, Brodsky, Robert A., Saunders, Carol

lấy văn bản lấy văn bản lấy văn bản

Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report Bằng Cadieux-Dion, Maxime, Safina, Nicole P., Engleman, Kendra, Saunders, Carol, Repnikova, Elena, Raje, Nikita, Canty, Kristi, Farrow, Emily, Miller, Neil, Zellmer, Lee, Thiffault, Isabelle

lấy văn bản lấy văn bản lấy văn bản

CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria Bằng Saunders, Carol, Smith, Laurie, Wibrand, Flemming, Ravn, Kirstine, Bross, Peter, Thiffault, Isabelle, Christensen, Mette, Atherton, Andrea, Farrow, Emily, Miller, Neil, Kingsmore, Stephen F., Ostergaard, Elsebet

lấy văn bản lấy văn bản lấy văn bản

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy Bằng Gutierrez, Mariana, Thiffault, Isabelle, Guerrero, Kether, Martos-Moreno, Gabriel Á., Tran, Luan T., Benko, William, van der Knaap, Marjo S., van Spaendonk, Rosalina M. L., Wolf, Nicole I., Bernard, Geneviève

lấy văn bản lấy văn bản lấy văn bản

Carriers of Recessive WNK1/HSN2 Mutations for Hereditary Sensory and Autonomic Neuropathy Type 2 (HSAN2) Are More Sensitive to Thermal Stimuli Bằng Loggia, Marco L., Bushnell, M. Catherine, Tétreault, Martine, Thiffault, Isabelle, Bhérer, Claude, Mohammed, Nazma K., Kuchinad, Anil A., Laferrière, Audrey, Dicaire, Marie-Josée, Loisel, Lina, Mogil, Jeffrey S., Brais, Bernard

lấy văn bản lấy văn bản lấy văn bản

Tremor–ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3–10q23.31 Bằng Bernard, Geneviève, Thiffault, Isabelle, Tetreault, Martine, Putorti, Maria Lisa, Bouchard, Isabelle, Sylvain, Michel, Melançon, Serge, Laframboise, Rachel, Langevin, Pierre, Bouchard, Jean-Pierre, Vanasse, Michel, Vanderver, Adeline, Sébire, Guillaume, Brais, Bernard

lấy văn bản lấy văn bản lấy văn bản

The 3′ addition of CCA to mitochondrial tRNA(Ser(AGY)) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1 Bằng Sasarman, Florin, Thiffault, Isabelle, Weraarpachai, Woranontee, Salomon, Steven, Maftei, Catalina, Gauthier, Julie, Ellazam, Benjamin, Webb, Neil, Antonicka, Hana, Janer, Alexandre, Brunel-Guitton, Catherine, Elpeleg, Orly, Mitchell, Grant, Shoubridge, Eric A.

lấy văn bản lấy văn bản lấy văn bản

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing Bằng Gallo, Vera, Dotta, Laura, Giardino, Giuliana, Cirillo, Emilia, Lougaris, Vassilios, D’Assante, Roberta, Prandini, Alberto, Consolini, Rita, Farrow, Emily G., Thiffault, Isabelle, Saunders, Carol J., Leonardi, Antonio, Plebani, Alessandro, Badolato, Raffaele, Pignata, Claudio

lấy văn bản lấy văn bản lấy văn bản

Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype Bằng Job, Florian, Mizumoto, Shuji, Smith, Laurie, Couser, Natario, Brazil, Ashley, Saal, Howard, Patterson, Melanie, Gibson, Margaret I., Soden, Sarah, Miller, Neil, Thiffault, Isabelle, Saunders, Carol, Yamada, Shuhei, Hoffmann, Katrin, Sugahara, Kazuyuki, Farrow, Emily

lấy văn bản lấy văn bản lấy văn bản

Retrospective analysis of NGS data in pediatric genetic cohort: detection of rare variants that may impact influenza and COVID-19 infection Bằng Thiffault, Isabelle, Farrow, Emily, Cohen, Ana, Zion, Tricia, Neal, Shelby, Cheung, Warren, Johnston, Jeffrey, Miller, Neil, Gibson, Margaret, Walter, Adam, Puckett, Laura, Posey, Nyshele, Nair, Annapoorna, McDonald, Brittany, Elfrink, Mary, Herd, Suzanne, Pastinen, Tomi

lấy văn bản lấy văn bản

Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A(2)γ recapitulate the mitochondriopathy of the homologous null mouse Bằng Saunders, Carol J., Moon, Sung Ho, Liu, Xinping, Thiffault, Isabelle, Coffman, Keith, LePichon, Jean-Baptiste, Taboada, Eugenio, Smith, Laurie D., Farrow, Emily G., Miller, Neil, Gibson, Margaret, Patterson, Melanie, Kingsmore, Stephen F., Gross, Richard W.

lấy văn bản lấy văn bản lấy văn bản

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome Bằng Gauthier, Julie, Ouled Amar Bencheikh, Bouchra, Hamdan, Fadi F, Harrison, Steven M, Baker, Linda A, Couture, Françoise, Thiffault, Isabelle, Ouazzani, Reda, Samuels, Mark E, Mitchell, Grant A, Rouleau, Guy A, Michaud, Jacques L, Soucy, Jean- François

lấy văn bản lấy văn bản lấy văn bản

POLR3A variants in hereditary spastic paraplegia and ataxia Bằng Gauquelin, Laurence, Tétreault, Martine, Thiffault, Isabelle, Farrow, Emily, Miller, Neil, Yoo, Byunggil, Bareke, Eric, Yoon, Grace, Suchowersky, Oksana, Dupré, Nicolas, Tarnopolsky, Mark, Brais, Bernard, Wolf, Nicole I, Majewski, Jacek, Rouleau, Guy A, Gan-Or, Ziv, Bernard, Geneviève

lấy văn bản lấy văn bản lấy văn bản

Clinical detection of deletion structural variants in whole-genome sequences Bằng Noll, Aaron C, Miller, Neil A, Smith, Laurie D, Yoo, Byunggil, Fiedler, Stephanie, Cooley, Linda D, Willig, Laurel K, Petrikin, Josh E, Cakici, Julie, Lesko, John, Newton, Angela, Detherage, Kali, Thiffault, Isabelle, Saunders, Carol J, Farrow, Emily G, Kingsmore, Stephen F

lấy văn bản lấy văn bản lấy văn bản

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy Bằng Sommerville, Ewen W, Zhou, Xiao-Long, Oláhová, Monika, Jenkins, Janda, Euro, Liliya, Konovalova, Svetlana, Hilander, Taru, Pyle, Angela, He, Langping, Habeebu, Sultan, Saunders, Carol, Kelsey, Anna, Morris, Andrew A M, McFarland, Robert, Suomalainen, Anu, Gorman, Gráinne S, Wang, En-Duo, Thiffault, Isabelle, Tyynismaa, Henna, Taylor, Robert W

lấy văn bản lấy văn bản lấy văn bản