Frederiksen, Anja L.
137  Ergebnisse:
Personensuche X
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1

PHKA2 variants expand the phenotype of phosphorylase B kina..:

Benner, Anne ; Alhaidan, Yazeid ; Lines, Matthew A...
https://vbn.aau.dk/da/publications/e0297a7d-77fd-49c8-9dd0-149f467461e4.  , 2021
 
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PHKA2 variants expand the phenotype of phosphorylase B kina..:

Benner, Anne ; Alhaidan, Yazeid ; Lines, Matthew A...
Benner , A , Alhaidan , Y , Lines , M A , Brusgaard , K , De Leon , D D , Sparkes , R , Frederiksen , A L & Christesen , H T 2021 , ' PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only ' , American Journal of Medical Genetics. Part A , vol. 185 , no. 10 , pp. 2959-2975 . https://doi.org/10.1002/ajmg.a.62383.  , 2021
 
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Clinical Features of Multiple Endocrine Neoplasia Type 4:No..:

Frederiksen, Anja ; Rossing, Maria ; Hermann, Pernille...
Frederiksen , A , Rossing , M , Hermann , P , Ejersted , C , Thakker , R V & Frost , M 2019 , ' Clinical Features of Multiple Endocrine Neoplasia Type 4 : Novel Pathogenic Variant and Review of Published Cases ' , The Journal of clinical endocrinology and metabolism , vol. 104 , no. 9 , pp. 3637-3646 . https://doi.org/10.1210/jc.2019-00082.  , 2019
 
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Neonatal High Bone Mass with First Mutation of the NF-κB Co..:

Frederiksen, Anja L ; Larsen, Martin J ; Brusgaard, Klaus...
https://vbn.aau.dk/da/publications/f25df7da-3875-4f2a-b78f-cacbcabe627e.  , 2016
 
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9

Bone-microarchitecture and bone-strength in a sample of adu..:

Hepp, Nicola ; Folkestad, Lars ; Møllebæk, Simone...
Hepp , N , Folkestad , L , Møllebæk , S , Frederiksen , A L , Duno , M , Jørgensen , N R , Hermann , A P & Jensen , J E B 2022 , ' Bone-microarchitecture and bone-strength in a sample of adults with hypophosphatasia and a matched reference population assessed by HR-pQCT and impact microindentation ' , Bone , vol. 160 , 116420 . https://doi.org/10.1016/j.bone.2022.116420.  , 2022
 
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10

Prevalence of Chronic Obstructive Pulmonary Disease and Chr..:

Frederiksen, Anja Lærke ; Laustsen, Birgitte Hamann ; Bælum, Jesper..
Frederiksen , A L , Laustsen , B H , Bælum , J , Pedersen , M L & Bønløkke , J H 2022 , ' Prevalence of Chronic Obstructive Pulmonary Disease and Chronic Bronchitis Among Predominantly Smoking Workers in the Seafood Industry in Greenland ' , International Journal of Chronic Obstructive Pulmonary Disease , vol. 17 , pp. 1167-1177 . https://doi.org/10.2147/COPD.S349106.  , 2022
 
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Telomersygdomme ; Telomere biology disorders:

Byrjalsen, Anna ; Bygum, Anette ; Lautrup, Charlotte Kvist...
Byrjalsen , A , Bygum , A , Lautrup , C K , Frederiksen , A L , Fialla , A D , Raaschou-Jensen , K , Bendstrup , E , Madsen , T N , Klarskov , M & Jelsig , A M 2022 , ' Telomersygdomme ' , Ugeskrift for Læger , bind 184 , nr. 28 , V03220220 ..  , 2022
 
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Telomersygdomme ; Telomere biology disorders:

Byrjalsen, Anna ; Bygum, Anette ; Lautrup, Charlotte Kvist...
https://vbn.aau.dk/da/publications/4390eb0c-84cc-4f70-a4b5-00670e370a0e.  , 2022
 
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14

Bone-microarchitecture and bone-strength in a sample of adu..:

Hepp, Nicola ; Folkestad, Lars ; Møllebæk, Simone...
https://vbn.aau.dk/da/publications/3cf846c9-f491-43d9-9fd6-759473e73127.  , 2022
 
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15

Bone Deformities and Kidney Failure:Coincidence of PHEX-Rel..:

Nielsen, Simone Rask ; Hansen, Stinus Gadegaard ; Bistrup, Claus..
https://vbn.aau.dk/da/publications/f6ae026f-c944-4847-b74e-3b7335467dff.  , 2022
 
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