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1,571 results

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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.
McMillan HJ, Humphreys P, Smith A, Schwartzentruber J, Chakraborty P, Bulman DE, Beaulieu CL; FORGE Canada Consortium; Majewski J, Boycott KM, Geraghty MT. McMillan HJ, et al. Among authors: chakraborty p. J Child Neurol. 2015 Jul;30(8):1037-43. doi: 10.1177/0883073814553272. Epub 2014 Oct 20. J Child Neurol. 2015. PMID: 25330800
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
Daoud H, Luco SM, Li R, Bareke E, Beaulieu C, Jarinova O, Carson N, Nikkel SM, Graham GE, Richer J, Armour C, Bulman DE, Chakraborty P, Geraghty M, Lines MA, Lacaze-Masmonteil T, Majewski J, Boycott KM, Dyment DA. Daoud H, et al. Among authors: chakraborty p. CMAJ. 2016 Aug 9;188(11):E254-E260. doi: 10.1503/cmaj.150823. Epub 2016 May 30. CMAJ. 2016. PMID: 27241786 Free PMC article.
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.
Smith A, McBride S, Marcadier JL, Michaud J, Al-Dirbashi OY, Schwartzentruber J, Beaulieu CL, Katz SL; FORGE Canada Consortium; Majewski J, Bulman DE, Geraghty MT, Harper ME, Chakraborty P, Lines MA. Smith A, et al. Among authors: chakraborty p. JIMD Rep. 2016;30:73-79. doi: 10.1007/8904_2016_536. Epub 2016 Jun 16. JIMD Rep. 2016. PMID: 27306203 Free PMC article.
T-cell receptor excision circle levels and safety of paediatric immunization: A population-based self-controlled case series analysis.
Wilson K, Duque DR, Murphy MSQ, Hawken S, Pham-Huy A, Kwong J, Deeks SL, Potter BK, Crowcroft NS, Bulman DE, Chakraborty P, Little J. Wilson K, et al. Among authors: chakraborty p. Hum Vaccin Immunother. 2018 Jun 3;14(6):1378-1391. doi: 10.1080/21645515.2018.1433971. Epub 2018 Feb 26. Hum Vaccin Immunother. 2018. PMID: 29420131 Free PMC article.
Association between newborn screening analytes and hypoxic ischemic encephalopathy.
Wilson LA, Fell DB, Hawken S, Wong CA, Murphy MSQ, Little J, Potter BK, Walker M, Lacaze-Masmonteil T, Juul S, Chakraborty P, Wilson K. Wilson LA, et al. Among authors: chakraborty p. Sci Rep. 2019 Oct 31;9(1):15704. doi: 10.1038/s41598-019-51919-x. Sci Rep. 2019. PMID: 31673070 Free PMC article.
Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations.
McMillan HJ, Kernohan KD, Yeh E, Amburgey K, Boyd J, Campbell C, Dowling JJ, Gonorazky H, Marcadier J, Tarnopolsky MA, Vajsar J, MacKenzie A, Chakraborty P. McMillan HJ, et al. Among authors: chakraborty p. Can J Neurol Sci. 2021 Jul;48(4):504-511. doi: 10.1017/cjn.2020.229. Epub 2020 Oct 16. Can J Neurol Sci. 2021. PMID: 33059774 Clinical Trial.
1,571 results