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Jespersgaard, Cathrine
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1

A Missense Mutation in RAB28 in a Family with Cone-Rod Dyst..:

Jespersgaard, Cathrine ; Hey, Amalie Brunbjerg ; Ilginis, Tomas...
Investigative Opthalmology & Visual Science.  61 (2020)  2 - p. 29 , 2020
Link: https://doi.org/10.1167/..
 
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2

Bi-Allelic Pathogenic Variations in MERTK Including Deletio..:

Jespersgaard, Cathrine ; Bertelsen, Mette ; Arif, Farah...
Genes.  11 (2020)  12 - p. 1517 , 2020
Link: https://doi.org/10.3390/..
 
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3

A pathogenic haplotype, common in Europeans, causes autosom..:

Grønskov, Karen ; Jespersgaard, Cathrine ; Bruun, Gitte Hoffmann...
Scientific Reports.  9 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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4

Molecular genetic analysis using targeted NGS analysis of 6..:

Jespersgaard, Cathrine ; Fang, Mingyan ; Bertelsen, Mette...
Scientific Reports.  9 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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5

Mosaic MECP2 variants in males with classical Rett syndrome..:

Schönewolf‐Greulich, Bitten ; Bisgaard, Anne‐Marie ; Dunø, Morten...
Clinical Genetics.  95 (2018)  3 - p. 403-408 , 2018
Link: https://doi.org/10.1111/..
 
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6

Replicative and non-replicative mechanisms in the formation..:

Nazaryan-Petersen, Lusine ; Eisfeldt, Jesper ; Pettersson, Maria...
PLOS Genetics.  14 (2018)  11 - p. e1007780 , 2018
Link: https://doi.org/10.1371/..
 
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7

Phenotypes and genotypes in individuals with SMC1A variants:

Huisman, Sylvia ; Mulder, Paul A. ; Redeker, Egbert...
American Journal of Medical Genetics Part A.  173 (2017)  8 - p. 2108-2125 , 2017
Link: https://doi.org/10.1002/..
 
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8

TS-EUROTRAIN: A European-Wide Investigation and Training Ne..:

Forde, Natalie J. ; Kanaan, Ahmad S. ; Widomska, Joanna...
Frontiers in Neuroscience.  10 (2016)  - p. , 2016
Link: https://doi.org/10.3389/..
 
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9

Proximal 21q deletion as a result of a de novo unbalanced t..:

Jespersgaard, Cathrine ; Damgaard, Ida N. ; Cornelius, Nanna...
Molecular Cytogenetics.  9 (2016)  1 - p. , 2016
Link: https://doi.org/10.1186/..
 
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10

Deletion of 11q12.3–11q13.1 in a patient with intellectual ..:

Boyle, Martine Isabel ; Jespersgaard, Cathrine ; Nazaryan, Lusine...
Gene.  572 (2015)  1 - p. 130-134 , 2015
Link: https://doi.org/10.1016/..
 
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11

MT‐CYB mutations in hypertrophic cardiomyopathy:

Hagen, Christian M. ; Aidt, Frederik H. ; Havndrup, Ole...
Molecular Genetics & Genomic Medicine.  1 (2013)  3 - p. 187-187 , 2013
Link: https://doi.org/10.1002/..
 
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12

MT‐CYB mutations in hypertrophic cardiomyopathy:

Hagen, Christian M. ; Aidt, Frederik H. ; Havndrup, Ole...
Molecular Genetics & Genomic Medicine.  1 (2013)  1 - p. 54-65 , 2013
Link: https://doi.org/10.1002/..
 
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13

Ring chromosome 9 in a girl with developmental delay and dy..:

Sibbesen, Else la Cour ; Jespersgaard, Cathrine ; Alosi, Daniela..
American Journal of Medical Genetics Part A.  161 (2013)  6 - p. 1447-1452 , 2013
Link: https://doi.org/10.1002/..
 
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14

Genetic Variability in Beta-Defensins Is Not Associated wit..:

Fode, Peder ; Larsen, Anders Rhod ; Feenstra, Bjarke...
PLoS ONE.  7 (2012)  2 - p. e32315 , 2012
Link: https://doi.org/10.1371/..
 
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15

Real-time TaqMan polymerase chain reaction–based genus-iden..:

Persson, Søren ; Petersen, Henrik M. ; Jespersgaard, Cathrine.
Diagnostic Microbiology and Infectious Disease.  74 (2012)  1 - p. 6-10 , 2012
Link: https://doi.org/10.1016/..
 
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