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Frykholm, Carina
28  results:
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1

Gustavson syndrome is caused by an in-frame deletion in RBM..:

Johansson, Josefin ; Lidéus, Sarah ; Frykholm, Carina...
European Journal of Human Genetics.  , 2023
Link: https://doi.org/10.1038/..
 
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2

Case report: a novel deep intronic splice-altering variant ..:

Berntsson, Shala Ghaderi ; Matsson, Hans ; Kristoffersson, Anna...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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3

Novel pathogenic ALG2 mutation causing congenital myastheni..:

Ehrstedt, Christoffer ; Liu, Wei-Wei ; Frykholm, Carina..
Neuromuscular Disorders.  32 (2022)  1 - p. 80-83 , 2022
Link: https://doi.org/10.1016/..
 
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4

Loss of Nexilin function leads to a recessive lethal fetal ..:

Johansson, Josefin ; Frykholm, Carina ; Ericson, Katharina...
American Journal of Medical Genetics Part A.  188 (2022)  6 - p. 1676-1687 , 2022
Link: https://doi.org/10.1002/..
 
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5

Stereocilin gene variants associated with episodic vertigo:..:

Frykholm, Carina ; Klar, Joakim ; Tomanovic, Tatjana..
European Journal of Human Genetics.  26 (2018)  12 - p. 1871-1874 , 2018
Link: https://doi.org/10.1038/..
 
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6

Exome sequencing reveals NAA15 and PUF60 as candidate genes..:

Zhao, Jin J. ; Halvardson, Jonatan ; Zander, Cecilia S....
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.  177 (2017)  1 - p. 10-20 , 2017
Link: https://doi.org/10.1002/..
 
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7

A novel approach using long‐read sequencing and ddPCR to in..:

Wilbe, Maria ; Gudmundsson, Sanna ; Johansson, Josefin...
Prenatal Diagnosis.  37 (2017)  11 - p. 1146-1154 , 2017
Link: https://doi.org/10.1002/..
 
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8

Phenotypic variability in a seven-generation Swedish family..:

Frykholm, Carina ; Klar, Joakim ; Arnesson, Hanna...
Gene.  563 (2015)  1 - p. 10-16 , 2015
Link: https://doi.org/10.1016/..
 
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9

Renal phenotypic investigations of megalin-deficient patien..:

Storm, Tina ; Tranebjærg, Lisbeth ; Frykholm, Carina...
Nephrology Dialysis Transplantation.  28 (2012)  3 - p. 585-591 , 2012
Link: https://doi.org/10.1093/..
 
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10

Familiar Meniere's disease restricted to 1.48 Mb on chromos..:

Gabriková, Dana ; Frykholm, Carina ; Friberg, Ulla...
Journal of Human Genetics.  55 (2010)  12 - p. 834-837 , 2010
Link: https://doi.org/10.1038/..
 
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11

A Meniere's disease gene linked to chromosome 12p12.3:

Klar, Joakim ; Frykholm, Carina ; Friberg, Ulla.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.  141B (2006)  5 - p. 463-467 , 2006
Link: https://doi.org/10.1002/..
 
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12

Case report : a novel deep intronic splice-altering variant..:

Ghaderi Berntsson, Shala ; Matsson, Hans ; Kristoffersson, Anna...
Frontiers in Genetics, 2023, 14,.  , 2023
Link: http://urn.kb.se/resolve..
 
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13

Gustavson syndrome is caused by an in-frame deletion in RBM..:

Johansson, Josefin ; Lideus, Sarah ; Frykholm, Carina...
European Journal of Human Genetics, 1018-4813, 2023.  , 2023
Link: http://urn.kb.se/resolve..
 
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14

Case report: a novel deep intronic splice-altering variant ..:

Berntsson, Shala Ghaderi ; Matsson, Hans ; Kristoffersson, Anna...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10546389/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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15

Novel pathogenic ALG2 mutation causing congenital myastheni..:

Ehrstedt, Christoffer ; Liu, Wei-Wei ; Frykholm, Carina..
Neuromuscular Disorders, 0960-8966, 2022, 32:1, s. 80-83.  , 2022
Link: http://urn.kb.se/resolve..
 
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