E-LIB Suche - Ergebnisse für: Gregersen, Pernille Axel

1

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/..

2

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/..

3

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/..

4

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/..

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

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/..

7

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/..

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/..

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

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/..

12

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/..

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

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/..

15

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/..