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Page 1
Five-month-old male with chronic diarrhea.
Paediatr Child Health. 2019 Nov 30;25(8):483-484. doi: 10.1093/pch/pxz155. eCollection 2020 Dec.
Paediatr Child Health. 2019.
PMID: 33354255
Free PMC article.
No abstract available.
A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis.
Roussel L, Pham-Huy A, Yu AC, Venkateswaran S, Perez A, Bourdel G, Sun Y, Villavicencio ST, Bernier S, Li Y, Kazimerczak-Brunet M, Alattar R, Déry MA, Shapiro AJ, Penner J, Vinh DC.
Roussel L, et al. Among authors: yu ac.
J Clin Immunol. 2023 Nov;43(8):2011-2021. doi: 10.1007/s10875-023-01580-x. Epub 2023 Sep 11.
J Clin Immunol. 2023.
PMID: 37695435
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Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.
Yang JH, Friederich MW, Ellsworth KA, Frederick A, Foreman E, Malicki D, Dimmock D, Lenberg J, Prasad C, Yu AC, Anthony Rupar C, Hegele RA, Manickam K, Koboldt DC, Crist E, Choi SS, Farhan SMK, Harvey H, Sattar S, Karp N, Wong T, Haas R, Van Hove JLK, Wigby K.
Yang JH, et al. Among authors: yu ac.
Hum Mutat. 2022 Mar;43(3):305-315. doi: 10.1002/humu.24330. Epub 2022 Jan 19.
Hum Mutat. 2022.
PMID: 35026043
Free PMC article.
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Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?
Yu AC, Zambrano RM, Cristian I, Price S, Bernhard B, Zucker M, Venkateswaran S, McGowan-Jordan J, Armour CM.
Yu AC, et al.
Am J Med Genet A. 2017 Jun;173(6):1593-1600. doi: 10.1002/ajmg.a.38241. Epub 2017 Apr 25.
Am J Med Genet A. 2017.
PMID: 28440577
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Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.
Tingley K, Lamoureux M, Pugliese M, Geraghty MT, Kronick JB, Potter BK, Coyle D, Wilson K, Kowalski M, Austin V, Brunel-Guitton C, Buhas D, Chan AKJ, Dyack S, Feigenbaum A, Giezen A, Goobie S, Greenberg CR, Ghai SJ, Inbar-Feigenberg M, Karp N, Kozenko M, Langley E, Lines M, Little J, MacKenzie J, Maranda B, Mercimek-Andrews S, Mohan C, Mhanni A, Mitchell G, Mitchell JJ, Nagy L, Napier M, Pender A, Potter M, Prasad C, Ratko S, Salvarinova R, Schulze A, Siriwardena K, Sondheimer N, Sparkes R, Stockler-Ipsiroglu S, Trakadis Y, Turner L, Van Karnebeek C, Vallance H, Vandersteen A, Walia J, Wilson A, Wilson BJ, Yu AC, Yuskiv N, Chakraborty P; Canadian Inherited Metabolic Diseases Research Network.
Tingley K, et al. Among authors: yu ac.
Orphanet J Rare Dis. 2020 Apr 10;15(1):89. doi: 10.1186/s13023-020-01358-z.
Orphanet J Rare Dis. 2020.
PMID: 32276663
Free PMC article.
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Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
Iverson R, Taljaard M, Geraghty MT, Pugliese M, Tingley K, Coyle D, Kronick JB, Wilson K, Austin V, Brunel-Guitton C, Buhas D, Butcher NJ, Chan AKJ, Dyack S, Goobie S, Greenberg CR, Jain-Ghai S, Inbar-Feigenberg M, Karp N, Kozenko M, Langley E, Lines M, Little J, MacKenzie J, Maranda B, Mercimek-Andrews S, Mhanni A, Mitchell JJ, Nagy L, Offringa M, Pender A, Potter M, Prasad C, Ratko S, Salvarinova R, Schulze A, Siriwardena K, Sondheimer N, Sparkes R, Stockler-Ipsiroglu S, Tapscott K, Trakadis Y, Turner L, Van Karnebeek C, Vandersteen A, Walia JS, Wilson BJ, Yu AC, Potter BK, Chakraborty P.
Iverson R, et al. Among authors: yu ac.
BMC Pediatr. 2024 Jan 13;24(1):37. doi: 10.1186/s12887-023-04393-4.
BMC Pediatr. 2024.
PMID: 38216926
Free PMC article.
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Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series.
Almudhry M, Saini AG, Al-Omari MA, Sharma Y, Nouri MN, Rupar CA, Prasad C, Yu AC, Attri SV, Prasad AN.
Almudhry M, et al. Among authors: yu ac.
Front Neurol. 2023 Nov 24;14:1265115. doi: 10.3389/fneur.2023.1265115. eCollection 2023.
Front Neurol. 2023.
PMID: 38073635
Free PMC article.
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