E-LIB Suche - Ergebnisse für: Duno, Morten

1

Variants in ZFX are associated with an X-linked neurodevelo..:

Shepherdson, James L. ; Hutchison, Katie ; Don, Dilan Wellalage...
The American Journal of Human Genetics. 111 (2024) 3 - p. 487-508 , 2024

Link: https://doi.org/10.1016/..

2

Acetaminophen treatment in children and adults with spinal ..:

Naume, Marie Mostue ; Zhao, Qiaolin ; Haslund-Krog, Sissel Sundell...
Neuromuscular Disorders. 34 (2024) - p. 9-18 , 2024

Link: https://doi.org/10.1016/..

3

THU187 Genotype-Phenotype Correlation, Clinical Presentatio..:

Lind-Holst, Marie ; Berglund, Agnethe ; Duno, Morten...
Journal of the Endocrine Society. 7 (2023) Supplement_1 - p. , 2023

Link: https://doi.org/10.1210/..

4

Expanding the Spectrum of Stress-Induced Childhood-Onset Ne..:

Lindskov, Filippa Orlien ; Karlsson, William Kristian ; Skovbølling, Sara Lyngby...
The Cerebellum. 23 (2023) 2 - p. 861-871 , 2023

Link: https://doi.org/10.1007/..

5

Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene ..:

Barington, Maria ; Dunø, Morten ; Birkedal, Ulf...
Neuromuscular Disorders. 33 (2023) 7 - p. 539-545 , 2023

Link: https://doi.org/10.1016/..

6

DNA methylation signature classification of rare disorders ..:

Hildonen, Mathis ; Ferilli, Marco ; Hjortshøj, Tina Duelund...
Clinical Genetics. 103 (2023) 6 - p. 688-692 , 2023

Link: https://doi.org/10.1111/..

7

Cerebral Palsy – Early Diagnosis and Intervention Trial: pr..:

Hoei-Hansen, Christina Engel ; Weber, Lene ; Johansen, Mette...
BMC Pediatrics. 23 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

8

Danish children with ZZ‐homozygous alpha‐1 antitrypsin defi..:

Winther, Christina Louise ; Nyrann, Sofie ; Gaardskaer Nielsen, Rasmus...
Acta Paediatrica. 113 (2023) 3 - p. 580-589 , 2023

Link: https://doi.org/10.1111/..

9

Muscle fat replacement and contractility in patients with s..:

Pedersen, Jonas Jalili ; Stemmerik, Mads Godtfeldt ; Jacobsen, Laura Nørager...
Scientific Reports. 13 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

10

Cell-free fetal DNA for genetic evaluation in Copenhagen Pr..:

Schlaikjær Hartwig, Tanja ; Ambye, Louise ; Gruhn, Jennifer R...
The Lancet. 401 (2023) 10378 - p. 762-771 , 2023

Link: https://doi.org/10.1016/..

11

Epidemiology and diagnostic trends of congenital adrenal hy..:

Berglund, Agnethe ; Ornstrup, Marie J. ; Lind-Holst, Marie...
The Lancet Regional Health - Europe. 28 (2023) - p. 100598 , 2023

Link: https://doi.org/10.1016/..

12

β‐Galactosidase deficiency in the GLB1 spectrum of lysosoma..:

Pedersen, Jonas Jalili ; Duno, Morten ; Wibrand, Flemming...
JIMD Reports. 63 (2022) 6 - p. 540-545 , 2022

Link: https://doi.org/10.1002/..

13

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/..

14

Three novelFHL1variants cause a mild phenotype of Emery‐Dre..:

Borch, Josefine d. S. ; Krag, Thomas ; Holm‐Yildiz, Sonja D....
Human Mutation. 43 (2022) 9 - p. 1234-1238 , 2022

Link: https://doi.org/10.1002/..

15

Six generations ofCHMP2B‐mediated Frontotemporal Dementia: ..:

Roos, Peter ; Johannsen, Peter ; Lindquist, Suzanne G....
Acta Neurologica Scandinavica. 145 (2022) 5 - p. 529-540 , 2022

Link: https://doi.org/10.1111/..