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Møller, Lisbeth Birk
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1

Genetic Modifiers of Non-Penetrance and RNA Expression Leve..:

Lisbjerg, Kristian ; Grønskov, Karen ; Bertelsen, Mette..
Genes.  14 (2023)  2 - p. 435 , 2023
Link: https://doi.org/10.3390/..
 
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2

Copper:

, In: Handbook on the Toxicology of Metals,
Møller, Lisbeth Birk ; Aaseth, Jan - p. 243-266 , 2022
Link: https://doi.org/10.1016/..
 
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3

Contributors:

, In: Handbook on the Toxicology of Metals,
Aaseth, Jan ; Aggett, Peter ; Aitio, Antero... - p. xxv-xxviii , 2022
Link: https://doi.org/10.1016/..
 
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4

Novel Homozygous Truncating Variant Widens the Spectrum of ..:

Karlsson, William Kristian ; Højgaard, Joan Lilja Sunnleyg ; Vilhelmsen, Anna...
The Cerebellum.  21 (2021)  3 - p. 514-519 , 2021
Link: https://doi.org/10.1007/..
 
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5

Contributors:

, In: Handbook on the Toxicology of Metals,
Aaseth, Jan ; Aggett, Peter ; Aitio, Antero... - p. xxvii-xxx , 2021
Link: https://doi.org/10.1016/..
 
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6

Occipital Horn Syndrome as a Result of Splice Site Mutation..:

Møller, Lisbeth Birk ; Mogensen, Mie ; Weaver, David D..
Frontiers in Molecular Neuroscience.  14 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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7

Crosstalk between BH4, pain, and dystonia:

Møller, Lisbeth Birk
European Journal of Human Genetics.  29 (2021)  12 - p. 1727-1728 , 2021
Link: https://doi.org/10.1038/..
 
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8

BBS Proteins Affect Ciliogenesis and Are Essential for Hedg..:

Hey, Caroline Amalie Brunbjerg ; Larsen, Lasse Jonsgaard ; Tümer, Zeynep...
International Journal of Molecular Sciences.  22 (2021)  3 - p. 1345 , 2021
Link: https://doi.org/10.3390/..
 
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9

Mutational analysis of TSC1 and TSC2 in Danish patients wit..:

Rosengren, Thomas ; Nanhoe, Santoesha ; de Almeida, Luis Gustavo Dufner...
Scientific Reports.  10 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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10

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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11

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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12

Crosstalk of Hedgehog and mTORC1 Pathways:

Larsen, Lasse Jonsgaard ; Møller, Lisbeth Birk
Cells.  9 (2020)  10 - p. 2316 , 2020
Link: https://doi.org/10.3390/..
 
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13

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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14

Chelating principles in Menkes and Wilson diseases:

Horn, Nina ; Møller, Lisbeth Birk ; Nurchi, Valeria Marina.
Journal of Inorganic Biochemistry.  190 (2019)  - p. 98-112 , 2019
Link: https://doi.org/10.1016/..
 
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15

Generation and characterization of three isogenic induced p..:

Hey, Caroline Amalie Brunbjerg ; Larsen, Lasse Jonsgaard ; Tümer, Zeynep...
Stem Cell Research.  41 (2019)  - p. 101594 , 2019
Link: https://doi.org/10.1016/..
 
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