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Abbott, Kristin M.
~ 3400  Ergebnisse:
Personensuche X
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1

The role of TBX18 in congenital heart defects in humans not..:

Engwerda, Aafke ; Abbott, Kristin M. ; Hitzert, Marrit M...
European Journal of Human Genetics.  31 (2022)  2 - p. 138-141 , 2022
Link: https://doi.org/10.1038/..
 
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2

Biallelic TMEM260 variants cause truncus arteriosus, with o..:

Pagnamenta, Alistair T. ; Jackson, Adam ; Perveen, Rahat...
Clinical Genetics.  101 (2021)  1 - p. 127-133 , 2021
Link: https://doi.org/10.1111/..
 
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3

Couple-based expanded carrier screening provided by general..:

Birnie, Erwin ; Schuurmans, Juliette ; Plantinga, Mirjam...
Genetics in Medicine.  23 (2021)  9 - p. 1761-1768 , 2021
Link: https://doi.org/10.1038/..
 
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4

Strategies in Rapid Genetic Diagnostics of Critically Ill C..:

Imafidon, Miriam E. ; Sikkema-Raddatz, Birgit ; Abbott, Kristin M....
Frontiers in Pediatrics.  9 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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5

Implementation of Early Next-Generation Sequencing for Inbo..:

Elsink, Kim ; Huibers, Manon M. H. ; Hollink, Iris H. I. M....
Frontiers in Immunology.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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6

National external quality assessment for next-generation se..:

Elsink, Kim ; Huibers, Manon M. H. ; Hollink, Iris H. I. M....
European Journal of Human Genetics.  29 (2020)  1 - p. 20-28 , 2020
Link: https://doi.org/10.1038/..
 
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7

A pipeline‐friendly software tool for genome diagnostics to..:

van der Velde, K. Joeri ; van den Hoek, Sander ; van Dijk, Freerk...
Advanced Genetics.  1 (2020)  1 - p. , 2020
Link: https://doi.org/10.1002/..
 
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8

GP-provided couple-based expanded preconception carrier scr..:

Schuurmans, Juliette ; Birnie, Erwin ; Ranchor, Adelita V....
European Journal of Human Genetics.  28 (2019)  2 - p. 182-192 , 2019
Link: https://doi.org/10.1038/..
 
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9

Dutch genome diagnostic laboratories accelerated and improv..:

Fokkema, Ivo F. A. C. ; Velde, Kasper J. ; Slofstra, Mariska K....
Human Mutation.  40 (2019)  12 - p. 2230-2238 , 2019
Link: https://doi.org/10.1002/..
 
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10

Feasibility of couple-based expanded carrier screening offe..:

Schuurmans, Juliette ; Birnie, Erwin ; van den Heuvel, Lieke M....
European Journal of Human Genetics.  27 (2019)  5 - p. 691-700 , 2019
Link: https://doi.org/10.1038/..
 
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11

Improving the diagnostic yield of exome- sequencing by pred..:

Deelen, Patrick ; van Dam, Sipko ; Herkert, Johanna C....
Nature Communications.  10 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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12

Fanconi anaemia presenting as acute myeloid leukaemia and m..:

Berger, Gerbrig ; van den Berg, Eva ; Smetsers, Stephanie...
British Journal of Haematology.  184 (2018)  6 - p. 1071-1073 , 2018
Link: https://doi.org/10.1111/..
 
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13

Toward an effective exome-based genetic testing strategy in..:

Herkert, Johanna C. ; Abbott, Kristin M. ; Birnie, Erwin...
Genetics in Medicine.  20 (2018)  11 - p. 1374-1386 , 2018
Link: https://doi.org/10.1038/..
 
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14

GAVIN: Gene-Aware Variant INterpretation for medical sequen..:

van der Velde, K. Joeri ; de Boer, Eddy N. ; van Diemen, Cleo C....
Genome Biology.  18 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
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15

Population-based preconception carrier screening: how poten..:

Plantinga, Mirjam ; Birnie, Erwin ; Abbott, Kristin M...
European Journal of Human Genetics.  24 (2016)  10 - p. 1417-1423 , 2016
Link: https://doi.org/10.1038/..
 
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