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NIHR BioResource—Rare Disease
8  results:
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1

Whole genome sequencing reveals that genetic conditions are..:

NIHR BioResource—Rare Disease ; French, Courtney E. ; Delon, Isabelle...
Intensive Care Medicine.  45 (2019)  5 - p. 627-636 , 2019
Link: https://doi.org/10.1007/..
 
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2

Whole genome sequencing reveals that genetic conditions are..:

French, CE ; Delon, I ; Dolling, H...
https://discovery.ucl.ac.uk/id/eprint/10070649/1/French2019_Article_WholeGenomeSequencingRevealsTh.pdf.  , 2019
Link: https://discovery.ucl.ac..
 
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3

Whole genome sequencing reveals that genetic conditions are..:

French, Courtney E ; Delon, Isabelle ; Dolling, Helen...
doi:10.17863/CAM.39644.  , 2019
Link: https://doi.org/10.17863..
 
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4

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to..:

Khan, Kamron N. ; El-Asrag, Mohammed E. ; Ku, Cristy A....
Investigative Opthalmology & Visual Science.  58 (2017)  7 - p. 2906 , 2017
Link: https://doi.org/10.1167/..
 
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5

Practical challenges for functional validation of STAT1 gai..:

Albuquerque, Adriana S ; Maimaris, Jesmeen ; McKenna, Alexander J...
https://discovery.ucl.ac.uk/id/eprint/10164685/1/uxad008.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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6

Phenotype description and response to thrombopoietin recept..:

Westbury, Sarah K. ; Downes, Kate ; Burney, Claire...
Blood Advances.  2 (2018)  18 - p. 2341-2346 , 2018
Link: https://doi.org/10.1182/..
 
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7

Predicting the Occurrence of Variants in RAG1 and RAG2:

NIHR BioResource–Rare Diseases Consortium ; Lawless, Dylan ; Lango Allen, Hana...
Journal of Clinical Immunology.  39 (2019)  7 - p. 688-701 , 2019
Link: https://doi.org/10.1007/..
 
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8

Expression Quantitative Trait Locus Mapping in Pulmonary Ar..:

Ulrich, Anna ; Otero-Núñez, Pablo ; Wharton, John...
Genes.  11 (2020)  11 - p. 1247 , 2020
Link: https://doi.org/10.3390/..
 
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