نتائج البحث - Thiffault, Isabelle

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing حسب 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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

POLR3A variants in hereditary spastic paraplegia and ataxia حسب 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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل