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	1.	Histone H3 mutations in pediatric brain tumors. [electronic resource] by Liu, Xiaoyang McEachron, Troy A Schwartzentruber, Jeremy Wu, Gang Producer: 20141126 In: Cold Spring Harbor perspectives in biology vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Toward a computational tool predicting the stereochemical outcome of asymmetric reactions: development and application of a rapid and accurate program based on organic principles. [electronic resource] by Corbeil, Christopher R Thielges, Sabine Schwartzentruber, Jeremy A Moitessier, Nicolas Producer: 20080411 In: Angewandte Chemie (International ed. in English) vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	What can exome sequencing do for you? [electronic resource] by Majewski, Jacek Schwartzentruber, Jeremy Lalonde, Emilie Montpetit, Alexandre Jabado, Nada Producer: 20120313 In: Journal of medical genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Two cases of congenital myasthenic syndrome with vocal cord paralysis. [electronic resource] by Al-Shahoumi, Rashid Brady, Lauren I Schwartzentruber, Jeremy Tarnopolsky, Mark A Producer: 20150522 In: Neurology vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Bridging the gap between single molecule and ensemble methods for measuring lateral dynamics in the plasma membrane. [electronic resource] by Arnspang, Eva C Schwartzentruber, Jeremy Clausen, Mathias P Wiseman, Paul W Lagerholm, B Christoffer Producer: 20140908 In: PloS one vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America. [electronic resource] by Doucette, Lance Green, Jane Black, Coleman Schwartzentruber, Jeremy Johnson, Gordon J Galutira, Dante Young, Terry-Lynn Producer: 20140314 In: Ophthalmic genetics vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations. [electronic resource] by Nazli, Aisha Safdar, Adeel Saleem, Ayesha Akhtar, Mahmood Brady, Lauren I Schwartzentruber, Jeremy Tarnopolsky, Mark A Producer: 20170912 In: European journal of human genetics : EJHG vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy. [electronic resource] by Khuong-Quang, Dong-Anh Schwartzentruber, Jeremy Westerman, Mark Lepage, Pierre Finberg, Karin E Majewski, Jacek Jabado, Nada Producer: 20130411 In: Pediatrics vol. 131 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature. [electronic resource] by Frosk, Patrick Chodirker, Bernard Simard, Louise El-Matary, Wael Hanlon-Dearman, Ana Schwartzentruber, Jeremy Majewski, Jacek Rockman-Greenberg, Cheryl Producer: 20150909 In: BMC medical genetics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Differential stability of 2'F-ANARNA and ANARNA hybrid duplexes: roles of structure, pseudohydrogen bonding, hydration, ion uptake and flexibility. [electronic resource] by Watts, Jonathan K Martín-Pintado, Nerea Gómez-Pinto, Irene Schwartzentruber, Jeremy Portella, Guillem Orozco, Modesto González, Carlos Damha, Masad J Producer: 20100510 In: Nucleic acids research vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene. [electronic resource] by Nowaczyk, Małgorzata J M Huang, Lijia Tarnopolsky, Mark Schwartzentruber, Jeremy Majewski, Jacek Bulman, Dennis E Hartley, Taila Boycott, Kym M Producer: 20171019 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet. [electronic resource] by Lacaria, Melanie Srour, Myriam Michaud, Jacques L Doja, Asif Miller, Elka Schwartzentruber, Jeremy Goldsmith, Claire Majewski, Jacek Boycott, Kym M Producer: 20171201 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome. [electronic resource] by McDonell, Laura M Warman Chardon, Jodi Schwartzentruber, Jeremy Foster, Denise Beaulieu, Chandree L Majewski, Jacek Bulman, Dennis E Boycott, Kym M Producer: 20140923 In: BMC neurology vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. [electronic resource] by Watkins, David Schwartzentruber, Jeremy A Ganesh, Jaya Orange, Jordan S Kaplan, Bernard S Nunez, Laura Dempsey Majewski, Jacek Rosenblatt, David S Producer: 20120313 In: Journal of medical genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood. [electronic resource] by Srour, Myriam Putorti, Maria Lisa Schwartzentruber, Jeremy Bolduc, Véronique Shevell, Michael Israel Poulin, Chantal O'ferrall, Erin Buhas, Daniela Majewski, Jacek Brais, Bernard Producer: 20141217 In: Muscle & nerve vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease. [electronic resource] by Accogli, Andrea Guerrero, Kether D'Agostino, Maria Daniela Tran, Luan Cieuta-Walti, Cécile Thiffault, Isabelle Chénier, Sébastien Schwartzentruber, Jeremy Majewski, Jacek Bernard, Geneviève Producer: 20200324 In: Journal of child neurology vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation. [electronic resource] by Venkateswaran, Sunita Myers, Ken A Smith, Amanda C Beaulieu, Chandree L Schwartzentruber, Jeremy A Majewski, Jacek Bulman, Dennis Boycott, Kym M Dyment, David A Producer: 20140922 In: Epilepsia vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Altered IFN-γ-mediated immunity and transcriptional expression patterns in N-Ethyl-N-nitrosourea-induced STAT4 mutants confer susceptibility to acute typhoid-like disease. [electronic resource] by Eva, Megan M Yuki, Kyoko E Dauphinee, Shauna M Schwartzentruber, Jeremy A Pyzik, Michal Paquet, Marilène Lathrop, Mark Majewski, Jacek Vidal, Silvia M Malo, Danielle Producer: 20140227 In: Journal of immunology (Baltimore, Md. : 1950) vol. 192 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology. [electronic resource] by Dyment, David A Smith, Amanda C Humphreys, Peter Schwartzentruber, Jeremy Beaulieu, Chandree L Bulman, Dennis E Majewski, Jacek Woulfe, John Michaud, Jean Boycott, Kym M Producer: 20150921 In: Neurobiology of aging vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease. [electronic resource] by McMillan, Hugh J Humphreys, Peter Smith, Amanda Schwartzentruber, Jeremy Chakraborty, Pranesh Bulman, Dennis E Beaulieu, Chandree L Majewski, Jacek Boycott, Kym M Geraghty, Michael T Producer: 20160315 In: Journal of child neurology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 85 results.