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Gregersen, Pernille Axél
68
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Online (68)
Mediatypes
Articles (Online) (51)
OpenAccess-fulltext (16)
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1
Natural history of adults with KBG syndrome: A physician-re..:
Bayat, Allan
;
Grimes, Hannah
;
de Boer, Elke
...
Genetics in Medicine. 26 (2024) 8 - p. 101170 , 2024
Link:
https://doi.org/10.1016/..
?
2
Clinical presentation and genetics of tricho-rhino-phalange..:
Herlin, Laura Krogh
;
Herlin, Morten Krogh
;
Blechingberg, Jenny
...
European Journal of Medical Genetics. 69 (2024) - p. 104937 , 2024
Link:
https://doi.org/10.1016/..
?
3
Lifetime impact of achondroplasia study in Europe (LIAISE):..:
Maghnie, Mohamad
;
Semler, Oliver
;
Guillen-Navarro, Encarna
...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
4
Real-world evidence in achondroplasia: considerations for a..:
Alanay, Yasemin
;
Mohnike, Klaus
;
Nilsson, Ola
...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
5
Pycnodysostosis in children and adults:
Hald, Jannie Dahl
;
Beck-Nielsen, Signe
;
Gregersen, Pernille Axel
..
Bone. 169 (2023) - p. 116674 , 2023
Link:
https://doi.org/10.1016/..
?
6
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/..
?
7
Autosomal recessive Noonan-like syndrome caused by homozygo..:
Markholt, Sara
;
Andreasen, Lotte
;
Bjerre, Jesper
..
European Journal of Medical Genetics. 66 (2023) 2 - p. 104695 , 2023
Link:
https://doi.org/10.1016/..
?
8
Carriers of COL3A1 pathogenic variants in Denmark: Interfam..:
Sølyst, Sofus
;
Oksjoki, Riina
;
Farholt, Stense
...
Clinical Genetics. 102 (2022) 3 - p. 191-200 , 2022
Link:
https://doi.org/10.1111/..
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9
Autosomal dominant sleep-related hypermotor epilepsy caused..:
Nielsen, Trine Østergaard
;
Herlin, Morten Krogh
;
Linnet, Karen Markussen
...
European Journal of Medical Genetics. 65 (2022) 3 - p. 104444 , 2022
Link:
https://doi.org/10.1016/..
?
10
Health-related quality of life (HRQoL) in achondroplasia: f..:
Maghnie, Mohamad
;
Semler, Oliver
;
Guillen-Navarro, Encarna
...
Molecular Genetics and Metabolism. 132 (2021) - p. S127-S128 , 2021
Link:
https://doi.org/10.1016/..
?
11
Lifetime impact of achondroplasia in Europe (LIAISE): findi..:
Maghnie, Mohamad
;
Semler, Oliver
;
Guillen-Navarro, Encarna
...
Molecular Genetics and Metabolism. 132 (2021) - p. S65-S66 , 2021
Link:
https://doi.org/10.1016/..
?
12
Living with heritable retinoblastoma and the perceived role..:
Gregersen, Pernille Axel
;
Funding, Mikkel
;
Alsner, Jan
...
BMJ Open Ophthalmology. 6 (2021) 1 - p. e000760 , 2021
Link:
https://doi.org/10.1136/..
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13
Phenotypic presentations of Hajdu-Cheney syndrome according..:
Graversen, Lise
;
Handrup, Mette Møller
;
Irving, Melita
...
European Journal of Medical Genetics. 63 (2020) 2 - p. 103650 , 2020
Link:
https://doi.org/10.1016/..
?
14
Confirmation of CAGSSS syndrome as a distinct entity in a D..:
Moosa, Shahida
;
Haagerup, Annette
;
Gregersen, Pernille Axel
...
American Journal of Medical Genetics Part A. 173 (2017) 4 - p. 1102-1108 , 2017
Link:
https://doi.org/10.1002/..
?
15
Development of hypomelanotic macules is associated with con..:
Møller, Lisbeth Birk
;
Schönewolf-Greulich, Bitten
;
Rosengren, Thomas
...
Molecular Genetics and Metabolism. 120 (2017) 4 - p. 384-391 , 2017
Link:
https://doi.org/10.1016/..
1-15