檢索結果 - Thiffault, Isabelle

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria 由 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

獲取全文 獲取全文 獲取全文

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy 由 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

獲取全文 獲取全文 獲取全文

Carriers of Recessive WNK1/HSN2 Mutations for Hereditary Sensory and Autonomic Neuropathy Type 2 (HSAN2) Are More Sensitive to Thermal Stimuli 由 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

獲取全文 獲取全文 獲取全文

Tremor–ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3–10q23.31 由 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

獲取全文 獲取全文 獲取全文

The 3′ addition of CCA to mitochondrial tRNA(Ser(AGY)) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1 由 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.

獲取全文 獲取全文 獲取全文

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing 由 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

獲取全文 獲取全文 獲取全文

Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype 由 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

獲取全文 獲取全文 獲取全文

Retrospective analysis of NGS data in pediatric genetic cohort: detection of rare variants that may impact influenza and COVID-19 infection 由 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

獲取全文 獲取全文

Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A(2)γ recapitulate the mitochondriopathy of the homologous null mouse 由 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.

獲取全文 獲取全文 獲取全文

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome 由 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

獲取全文 獲取全文 獲取全文

POLR3A variants in hereditary spastic paraplegia and ataxia 由 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

獲取全文 獲取全文 獲取全文

Clinical detection of deletion structural variants in whole-genome sequences 由 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

獲取全文 獲取全文 獲取全文

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy 由 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

獲取全文 獲取全文 獲取全文