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Reinson, Karit
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1

A clustering of heterozygous missense variants in the cruci..:

Snijders Blok, Lot ; Verseput, Jolijn ; Rots, Dmitrijs...
Human Genetics and Genomics Advances.  4 (2023)  1 - p. 100157 , 2023
Link: https://doi.org/10.1016/..
 
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2

The prevalence of inherited metabolic disorders in Estonian..:

Tiivoja, Elis ; Reinson, Karit ; Muru, Kai...
JIMD Reports.  63 (2022)  6 - p. 604-613 , 2022
Link: https://doi.org/10.1002/..
 
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3

Rare pathogenic variants in WNK3 cause X-linked intellectua..:

Küry, Sébastien ; Zhang, Jinwei ; Besnard, Thomas...
Genetics in Medicine.  24 (2022)  9 - p. 1941-1951 , 2022
Link: https://doi.org/10.1016/..
 
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4

Complex I deficiency and Leigh syndrome through the eyes of..:

Reinson, Karit ; Õunap, Katrin
EMBO Molecular Medicine.  12 (2020)  11 - p. , 2020
Link: https://doi.org/10.15252..
 
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5

Distinct effects on mRNA export factor GANP underlie neurol..:

Tyynismaa, Henna ; Ylikallio, Emil ; Stewart, Murray...
Human Molecular Genetics.  29 (2020)  9 - p. 1426-1439 , 2020
Link: https://doi.org/10.1093/..
 
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6

Atypical presentation of Arts syndrome due to a novel hemiz..:

Puusepp, Sanna ; Reinson, Karit ; Pajusalu, Sander...
Molecular Genetics and Metabolism Reports.  25 (2020)  - p. 100677 , 2020
Link: https://doi.org/10.1016/..
 
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7

Regulatory landscape of providing information on newborn sc..:

Franková, Věra ; Driscoll, Riona O. ; Jansen, Marleen E....
European Journal of Human Genetics.  29 (2020)  1 - p. 67-78 , 2020
Link: https://doi.org/10.1038/..
 
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8

FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency..:

Muru, Kai ; Reinson, Karit ; Künnapas, Kadi...
Molecular Genetics & Genomic Medicine.  7 (2019)  9 - p. , 2019
Link: https://doi.org/10.1002/..
 
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9

Diverse phenotype in patients with complex I deficiency due..:

Reinson, Karit ; Kovacs-Nagy, Reka ; Õiglane-Shlik, Eve...
European Journal of Medical Genetics.  62 (2019)  11 - p. 103572 , 2019
Link: https://doi.org/10.1016/..
 
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10

A retrospective analysis of the prevalence of imprinting di..:

Yakoreva, Maria ; Kahre, Tiina ; Žordania, Riina...
European Journal of Human Genetics.  27 (2019)  11 - p. 1649-1658 , 2019
Link: https://doi.org/10.1038/..
 
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11

The evaluation of phenylalanine levels in Estonian phenylke..:

Lilleväli, Hardo ; Reinson, Karit ; Muru, Kai...
Molecular Genetics and Metabolism Reports.  19 (2019)  - p. 100467 , 2019
Link: https://doi.org/10.1016/..
 
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12

Effectiveness of whole exome sequencing in unsolved patient..:

Puusepp, Sanna ; Reinson, Karit ; Pajusalu, Sander...
Molecular Genetics and Metabolism Reports.  15 (2018)  - p. 80-89 , 2018
Link: https://doi.org/10.1016/..
 
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13

High incidence of low vitamin B12 levels in Estonian newbor..:

Reinson, Karit ; Künnapas, Kadi ; Kriisa, Annika...
Molecular Genetics and Metabolism Reports.  15 (2018)  - p. 1-5 , 2018
Link: https://doi.org/10.1016/..
 
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14

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Sever..:

Thompson, Kyle ; Majd, Homa ; Dallabona, Cristina...
The American Journal of Human Genetics.  99 (2016)  6 - p. 1405 , 2016
Link: https://doi.org/10.1016/..
 
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15

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Sever..:

Thompson, Kyle ; Majd, Homa ; Dallabona, Cristina...
The American Journal of Human Genetics.  99 (2016)  4 - p. 860-876 , 2016
Link: https://doi.org/10.1016/..
 
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