Хайлтын үр дүнгүүд - Bulman, Dennis E

The Human Skeletal Muscle Na Channel Mutation R669H Associated with Hypokalemic Periodic Paralysis Enhances Slow Inactivation -н Struyk, Arie F., Scoggan, Kylie A., Bulman, Dennis E., Cannon, Stephen C.

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A Case Report of Myoclonus-Dystonia with Isolated Myoclonus Phenotype and Novel Mutation Successfully Treated with Deep Brain Stimulation -н Besa Lehmann, Valentina, Rosenbaum, Marc, Bulman, Dennis E., Read, Tara, Verhagen Metman, Leo

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Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene -н Smith, Amanda, Bulman, Dennis E, Goldsmith, Claire, Bareke, Eric, Majewski, Jacek, Boycott, Kym M, Nikkel, Sarah M

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Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening -н Blagojevic, Christina, Heung, Tracy, Theriault, Mylene, Tomita-Mitchell, Aoy, Chakraborty, Pranesh, Kernohan, Kristin, Bulman, Dennis E., Bassett, Anne S.

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Ataxia Telangiectasia Diagnosed on Newborn Screening–Case Cohort of 5 Years' Experience -н Mandola, Amarilla B., Reid, Brenda, Sirror, Raga, Brager, Rae, Dent, Peter, Chakroborty, Pranesh, Bulman, Dennis E., Roifman, Chaim M.

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An evaluation of genetic causes and environmental risks for bilateral optic atrophy -н Chen, Andrew T., Brady, Lauren, Bulman, Dennis E., Sundaram, Arun N. E., Rodriguez, Amadeo R., Margolin, Edward, Waye, John S., Tarnopolsky, Mark A.

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The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome -н McDonell, Laura M, Warman Chardon, Jodi, Schwartzentruber, Jeremy, Foster, Denise, Beaulieu, Chandree L, Majewski, Jacek, Bulman, Dennis E, Boycott, Kym M

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The defining DNA methylation signature of Floating-Harbor Syndrome -н Hood, Rebecca L., Schenkel, Laila C., Nikkel, Sarah M., Ainsworth, Peter J., Pare, Guillaume, Boycott, Kym M., Bulman, Dennis E., Sadikovic, Bekim

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Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1 -н Racacho, Lemuel, Byrnes, Ashley M, MacDonald, Heather, Dranse, Helen J, Nikkel, Sarah M, Allanson, Judith, Rosser, Elisabeth, Underhill, T Michael, Bulman, Dennis E

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A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder -н Lahiry, Piya, Racacho, Lemuel, Wang, Jian, Robinson, John F, Gloor, Gregory B, Rupar, C Anthony, Siu, Victoria M, Bulman, Dennis E, Hegele, Robert A

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Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease -н McMillan, Hugh J, Schwartzentruber, Jeremy, Smith, Amanda, Lee, Suzie, Chakraborty, Pranesh, Bulman, Dennis E, Beaulieu, Chandree L, Majewski, Jacek, Boycott, Kym M, Geraghty, Michael T

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Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes -н Diamandis, Maria, Paterson, Andrew D., Rommens, Johanna M., Veljkovic, D. Kika, Blavignac, Jessica, Bulman, Dennis E., Waye, John S., Derome, Francine, Rivard, Georges E., Hayward, Catherine P. M.

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Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog -н Byrnes, Ashley M, Racacho, Lemuel, Grimsey, Allison, Hudgins, Louanne, Kwan, Andrea C, Sangalli, Michel, Kidd, Alexa, Yaron, Yuval, Lau, Yu-Lung, Nikkel, Sarah M, Bulman, Dennis E

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Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia -н Huang, Lijia, Chardon, Jodi Warman, Carter, Melissa T, Friend, Kathie L, Dudding, Tracy E, Schwartzentruber, Jeremy, Zou, Ruobing, Schofield, Peter W, Douglas, Stuart, Bulman, Dennis E, Boycott, Kym M

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Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia -н Huang, Lijia, Warman-Chardon, Jodi, Carter, Melissa T., Friend, Kathie L., Dudding, Tracy E., Schwartzentruber, Jeremy, Zou, Ruobing, Schofield, Peter W., Douglas, Stuart, Bulman, Dennis E., Boycott, Kym M.

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Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria -н Marcadier, Julien L, Smith, Amanda M, Pohl, Daniela, Schwartzentruber, Jeremy, Al-Dirbashi, Osama Y, Majewski, Jacek, Ferdinandusse, Sacha, Wanders, Ronald JA, Bulman, Dennis E, Boycott, Kym M, Chakraborty, Pranesh, Geraghty, Michael T

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T-cell receptor excision circle levels and safety of paediatric immunization: A population-based self-controlled case series analysis -н Wilson, Kumanan, Duque, Daniel Rodriguez, Murphy, Malia S.Q, Hawken, Steven, Pham-Huy, Anne, Kwong, Jeffrey, Deeks, Shelley L., Potter, Beth K., Crowcroft, Natasha S., Bulman, Dennis E., Chakraborty, Pranesh, Little, Julian

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Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes -н Aref-Eshghi, Erfan, Rodenhiser, David I., Schenkel, Laila C., Lin, Hanxin, Skinner, Cindy, Ainsworth, Peter, Paré, Guillaume, Hood, Rebecca L., Bulman, Dennis E., Kernohan, Kristin D., Boycott, Kym M., Campeau, Philippe M., Schwartz, Charles, Sadikovic, Bekim

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Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency -н Smith, Amanda, McBride, Skye, Marcadier, Julien L., Michaud, Jean, Al-Dirbashi, Osama Y., Schwartzentruber, Jeremy, Beaulieu, Chandree L., Katz, Sherri L., Majewski, Jacek, Bulman, Dennis E., Geraghty, Michael T., Harper, Mary-Ellen, Chakraborty, Pranesh, Lines, Matthew A.

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17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD) -н Armour, Christine M, Bulman, Dennis E, Jarinova, Olga, Rogers, Richard Curtis, Clarkson, Kate B, DuPont, Barbara R, Dwivedi, Alka, Bartel, Frank O, McDonell, Laura, Schwartz, Charles E, Boycott, Kym M, Everman, David B, Graham, Gail E

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