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Frederiksen, Anja L.
209  Ergebnisse:
Personensuche X
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1

The osteogenic capacity of bone marrow mesenchymal stem cel..:

Guerra, Paula Fernandez ; Sayed, Ahmed ; Nielsen, Tina K....
Bone Reports.  16 (2022)  - p. 101392 , 2022
Link: https://doi.org/10.1016/..
 
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2

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

Benner, Anne ; Alhaidan, Yazeid ; Lines, Matthew A....
American Journal of Medical Genetics Part A.  185 (2021)  10 - p. 2959-2975 , 2021
Link: https://doi.org/10.1002/..
 
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3

Clinical Features of Multiple Endocrine Neoplasia Type 4: N..:

Frederiksen, Anja ; Rossing, Maria ; Hermann, Pernille...
The Journal of Clinical Endocrinology & Metabolism.  104 (2019)  9 - p. 3637-3646 , 2019
Link: https://doi.org/10.1210/..
 
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4

Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutat..:

Frost, Morten ; Tencerova, Michaela ; Andreasen, Christina M....
Bone.  121 (2019)  - p. 243-254 , 2019
Link: https://doi.org/10.1016/..
 
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5

Boucher Neuhäuser Syndrome – A rare cause of inherited hypo..:

Langdahl, Jakob H. ; Frederiksen, Anja L. ; Nguyen, Nina..
European Journal of Medical Genetics.  60 (2017)  2 - p. 105-109 , 2017
Link: https://doi.org/10.1016/..
 
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6

Case report: vitamin D‐dependent rickets type 1 caused by a..:

Füchtbauer, Laila ; Brusgaard, Klaus ; Ledaal, Pål..
Clinical Case Reports.  3 (2015)  12 - p. 1012-1016 , 2015
Link: https://doi.org/10.1002/..
 
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7

Neonatal High Bone Mass With First Mutation of the NF-κB Co..:

Frederiksen, Anja L ; Larsen, Martin J ; Brusgaard, Klaus...
Journal of Bone and Mineral Research.  31 (2015)  1 - p. 163-172 , 2015
Link: https://doi.org/10.1002/..
 
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8

A novel mitochondrial mutation m.8989G>C associated with ne..:

Duno, Morten ; Wibrand, Flemming ; Baggesen, Kirsten...
Gene.  515 (2013)  2 - p. 372-375 , 2013
Link: https://doi.org/10.1016/..
 
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9

Clinical Manifest X-Linked Recessive Adrenoleukodystrophy i..:

Jack, Gyda Hlin Skuladottir ; Malm-Willadsen, Karolina ; Frederiksen, Anja..
Case Reports in Neurological Medicine.  2013 (2013)  - p. 1-3 , 2013
Link: https://doi.org/10.1155/..
 
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10

Limited diagnostic value of enzyme analysis in patients wit..:

Wibrand, Flemming ; Jeppesen, Tina D. ; Frederiksen, Anja L....
Muscle & Nerve.  41 (2009)  5 - p. 607-613 , 2009
Link: https://doi.org/10.1002/..
 
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11

PDP type brain tumor in association with multiple endocrine..:

Einarsson, Halldór Bjarki ; Frederiksen, Anja Lisbeth ; Pedersen, Inge Soekilde...
Heliyon.  10 (2024)  6 - p. e27418 , 2024
Link: https://doi.org/10.1016/..
 
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12

Clinical performance of AI-integrated risk assessment pooli..:

Kamari, Farzin ; Eller, Esben ; Bøgebjerg, Mathias Emil...
Scientific Reports.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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13

National clinical Genetic Networks - GENets - Establishment..:

Lildballe, Dorte L. ; Frederiksen, Anja Lisbeth ; Schönewolf-Greulich, Bitten...
European Journal of Medical Genetics.  66 (2023)  12 - p. 104872 , 2023
Link: https://doi.org/10.1016/..
 
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14

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

Nielsen, Simone Rask ; Hansen, Stinus Gadegaard ; Bistrup, Claus..
Calcified Tissue International.  111 (2022)  6 - p. 641-645 , 2022
Link: https://doi.org/10.1007/..
 
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15

Biochemical and clinical manifestations in adults with hypo..:

Hepp, Nicola ; Frederiksen, Anja Lisbeth ; Duno, Morten..
Osteoporosis International.  33 (2022)  12 - p. 2595-2605 , 2022
Link: https://doi.org/10.1007/..
 
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