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Connection

Janell Kierstein to Humans

This is a "connection" page, showing publications Janell Kierstein has written about Humans.

 
Connection Strength
 
 
 
0.022
 
  1. Starosta RT, He M, Gracie S, Kierstein J, Thiel C, Himmelreich N, Liu Y, Zhang W, Edmondson AC, Meeks N, Larson A, Van Hove JLK, Kochhar A. L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers. Mol Genet Metab. 2026 Mar; 147(3):109727.
    View in: PubMed
    Score: 0.006
  2. Slater BA, Seymour S, Burt E, Kierstein J, Larson AA, Taylor MRG. Phenotypic Expansion of Autosomal Dominant SREBF1-Related Ichthyosis Follicularis, Atrichia, Photophobia: It Is in Fact the Same Condition as Hereditary Mucoepithelial Dysplasia. Clin Genet. 2026 06; 109(6):1049-1054.
    View in: PubMed
    Score: 0.006
  3. 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, BaraƱano 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.
    View in: PubMed
    Score: 0.005
  4. 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.
    View in: PubMed
    Score: 0.004
  5. 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.
    View in: PubMed
    Score: 0.002
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.

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