E-LIB Suche - Ergebnisse für: Gjørup, Vibike

1

Combined achondroplasia and short stature homeobox-containi..:

Seiersen, Kasper V. ; Henriksen, Tine B. ; Andelius, Ted C.K....
European Journal of Medical Genetics. 67 (2024) - p. 104894 , 2024

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

2

Novel TRPV4 variant causes a severe form of metatropic dysp..:

Graversen, Lise ; Haagerup, Annette ; Andersen, Brian N....
Clinical Case Reports. 6 (2018) 9 - p. 1774-1778 , 2018

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

3

First reported case of Simpson–Golabi–Behmel syndrome in a ..:

Støve, Heidi Kristine ; Becher, Naja ; Gjørup, Vibike...
Clinical Case Reports. 5 (2017) 5 - p. 608-612 , 2017

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

4

Combined achondroplasia and short stature homeobox-containi..:

Seiersen, Kasper V ; Henriksen, Tine B ; Andelius, Ted C K...
https://pure.au.dk/portal/en/publications/72ad996c-dec7-4880-9a2d-b6e30e24f2c7. , 2024

Link: https://pure.au.dk/porta..

5

Combined achondroplasia and short stature homeobox-containi..:

Seiersen, Kasper V ; Henriksen, Tine B ; Andelius, Ted C.K...
https://pure.au.dk/portal/en/publications/cea42a67-b1d4-46b4-82eb-01b0fa021dd9. , 2024

Link: https://pure.au.dk/porta..

6

Combined achondroplasia and short stature homeobox-containi..:

Seiersen, Kasper V ; Henriksen, Tine B ; Andelius, Ted C. K...
https://vbn.aau.dk/da/publications/55c5e5c7-7a51-49c7-b28f-6f1dccf0d8d5. , 2024

Link: https://vbn.aau.dk/da/pu..

7

Fetal costello syndrome:description of phenotype of HRAS ex..:

Schøler Nørgaard, Maria ; Mogra, Ritu ; Pinner, Jason...
Schøler Nørgaard , M , Mogra , R , Pinner , J , Kagan , K O , Warming Jørgensen , M , Gjørup , V , Petersen , O B , Sandager , P & Vogel , I 2020 , ' Fetal costello syndrome : description of phenotype of HRAS exon 1 mutations ' , Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology , vol. 55 , no. 2 , pp. 274-275 . https://doi.org/10.1002/uog.20281. , 2020

Link: https://portal.findresea..

8

Novel TRPV4 variant causes a severe form of metatropic dysp..:

Graversen, Lise ; Haagerup, Annette ; Andersen, Brian N...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132144/. , 2018

Link: http://www.ncbi.nlm.nih...

9

First reported case of Simpson–Golabi–Behmel syndrome in a ..:

Støve, Heidi Kristine ; Becher, Naja ; Gjørup, Vibike...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412752/. , 2017

Link: http://www.ncbi.nlm.nih...