 Janell L Kierstein
| Title | Senior Instructor |
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| Institution | University of Colorado Denver - Anschutz Medical Campus |
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| Department | SOM-PEDS |
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 Bibliographic
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Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, Kerkhof J, McConkey H, Shvedunova M, Petersen AK, Magnussen K, Zweier C, Vasileiou G, Reis A, Savatt JM, Mulligan MR, Bicknell LS, Poke G, Abu-El-Haija A, Duis J, Hannig V, Srivastava S, Barkoudah E, Hauser NS, van den Born M, Hamiel U, Henig N, Baris Feldman H, McKee S, Krapels IPC, Lei Y, Todorova A, Yordanova R, Atemin S, Rogac M, McConnell V, Chassevent A, Bara?ano KW, Shashi V, Sullivan JA, Peron A, Iascone M, Canevini MP, Friedman J, Reyes IA, Kierstein J, Shen JJ, Ahmed FN, Mao X, Almoguera B, Blanco-Kelly F, Platzer K, Treu AB, Quilichini J, Bourgois A, Chatron N, Januel L, Rougeot C, Carere DA, Monaghan KG, Rousseau J, Myers KA, Sadikovic B, Akhtar A, Campeau PM. MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature. Am J Hum Genet. 2024 07 11; 111(7):1330-1351. PMID: 38815585.
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Chang C, Gupta AO, Orchard PJ, Nascene DR, Kierstein J, Tryon RK, Lund TC. A case series of adrenoleukodystrophy in children conceived through in?vitro fertilization with an egg donor. F S Rep. 2023 Mar; 4(1):24-28. PMID: 36959964.
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Kripps K, Kierstein J, Nicklas D, Nelson J, Yang M, Collins A, Troy E, Escolar M, Maloney J, Neuberger I, Stence N, Baker PR. Unusual Neuroimaging in a Case of Rapidly Progressive Juvenile-Onset Krabbe Disease. J Child Neurol. 2020 09; 35(10):649-653. PMID: 32484059.
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Thomas JA, Jacobs S, Kierstein J, Van Hove J. Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome. J Inherit Metab Dis. 2006 Dec; 29(6):762. PMID: 17089217.
This graph shows the total number of publications by year, by first, middle/unknown, or last author.
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| Year | Publications |
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| 2006 | 1 | | 2020 | 1 | | 2022 | 1 | | 2024 | 1 |
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