Kuijpers, MM
17  Ergebnisse:
Personensuche X
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1

A nationwide retrospective observational study of populatio..:

Jager, EA ; Kuijpers, MM ; Bosch, AM...
Jager , EA , Kuijpers , MM , Bosch , AM , Mulder , MF , Gozalbo , ER , Visser , G , Boersma - de Vries , M , Williams , M , Waterham , HR , van Spronsen , FJ , Schielen , P & Derks , TGJ 2019 , ' A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands ' , Journal of Inherited Metabolic Disease , vol. 42 , no. 5 , pp. 890-897 . https://doi.org/10.1002/jimd.12102.  , 2019
 
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6

Characterization of the clinical and immunologic phenotype ..:

Lorenzini, T ; Fliegauf, M ; Klammer, N...
https://discovery.ucl.ac.uk/id/eprint/10105992/1/Characterization%20of%20the%20clinical%20and%20immunological%20phenotype%20and%20management%20of%20157%20individuals%20with%2056%20distinct%20heterozygous%20NFKB1%20mutations.pdf.  , 2020
 
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8

Prevalence and clinical challenges among adults with primar..:

Lawless, D ; Geier, CB ; Farmer, JR...
https://discovery.ucl.ac.uk/id/eprint/10044704/7/Lawless_1-s2.0-S0091674918302926-main.pdf.  , 2018
 
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9

Prevalence and clinical challenges among adults with primar..:

Lawless, D ; Geier, CB ; Farmer, JR...
https://eprints.whiterose.ac.uk/128041/15/Prevalence%20and%20clinical%20challenges%20among%20adult%20primary%20immunodeficiency%20patients%20with%20RAG%20deficiency.pdf.  , 2018
 
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10

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Sy..:

Oud, MM ; Tuijnenburg, P ; Hempel, M...
https://discovery.ucl.ac.uk/id/eprint/1541039/1/Williams_EXTL3_Manuscript.pdf.  , 2017
 
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11

Genetic Drivers of Epigenetic and Transcriptional Variation..:

Chen, L ; Ge, B ; Casale, FP...
https://discovery.ucl.ac.uk/id/eprint/1530105/1/Ecker_Chen%20et%20al.%20-%202016%20-%20Genetic%20Drivers%20of%20Epigenetic%20and%20Transcriptional%20Variation%20in%20Human%20Immune%20Cells.pdf.  , 2016
 
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12

Genetic Drivers of Epigenetic and Transcriptional Variation..:

Chen, L ; Ge, B ; Casale, FP...
http://blueprint-dev.bioinfo.cnio.es/WP10/qtls.  , 2016
 
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