E-LIB Suche - Ergebnisse für: Sousa, Sérgio B

1

European Achondroplasia Forum Practical Considerations for ..:

Fredwall, Svein ; AlSayed, Moeenaldeen ; Ben-Omran, Tawfeg...
Advances in Therapy. , 2024

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

2

Pachydysostosis of the fibula in a case of familial adenoma..:

Oliveira, Daniela ; Maia, Sofia ; Balacó, Inês...
European Journal of Medical Genetics. 68 (2024) - p. 104913 , 2024

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

3

European Achondroplasia Forum guiding principles for the de..:

Irving, Melita ; AlSayed, Moeenaldeen ; Arundel, Paul...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

4

Once-weekly TransCon CNP (navepegritide) in children with a..:

Savarirayan, Ravi ; Hoernschemeyer, Daniel G. ; Ljungberg, Merete...
eClinicalMedicine. 65 (2023) - p. 102258 , 2023

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

5

THU156 Significantly Improved Annual Height Velocity With O..:

Savarirayan, Ravi ; McDonnell, Ciara ; Hoernschemeyer, Daniel G...
Journal of the Endocrine Society. 7 (2023) Supplement_1 - p. , 2023

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

6

Evolution of clinical and radiological presentations of spo..:

Díaz‐González, Francisca ; Parrón‐Pajares, Manuel ; Lucas‐Castro, Elsa...
Clinical Genetics. 104 (2023) 1 - p. 100-106 , 2023

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

7

Characterization of three adults and an adolescent with Ost..:

Travessa, André M. ; Dias, Patrícia ; Rosmaninho-Salgado, Joana...
European Journal of Medical Genetics. 66 (2023) 11 - p. 104867 , 2023

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

8

Vosoritide Therapy in Children with Achondroplasia: Early E..:

Semler, Oliver ; Cormier-Daire, Valérie ; Lausch, Ekkehart...
Advances in Therapy. 41 (2023) 1 - p. 198-214 , 2023

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

9

Pycnodysostosis: A rare cause of pathological fractures and..:

Sousa, Marlene ; Prata, Ana Rita ; Maduro, Ana Isabel..
Joint Bone Spine. 90 (2023) 4 - p. 105547 , 2023

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

10

ANKRD11 pathogenic variants and 16q24.3 microdeletions shar..:

Awamleh, Zain ; Choufani, Sanaa ; Cytrynbaum, Cheryl...
Human Molecular Genetics. 32 (2022) 9 - p. 1429-1438 , 2022

Link: https://doi.org/10.1093/..

11

Optimising the diagnosis and referral of achondroplasia in ..:

Cormier-Daire, Valerie ; AlSayed, Moeenaldeen ; Alves, Inês...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

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

12

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a C..:

Calame, Daniel G. ; Herman, Isabella ; Maroofian, Reza...
Annals of Neurology. 92 (2022) 2 - p. 304-321 , 2022

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

13

Optimising care and follow-up of adults with achondroplasia:

Fredwall, Svein ; Allum, Yana ; AlSayed, Moeenaldeen...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

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

14

Congenital cutaneous ossification:

Gomes, Tiago Fernandes ; Kieselová, Katarina ; Santiago, Felicidade...
Journal of Paediatrics and Child Health. 58 (2021) 7 - p. 1262-1264 , 2021

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

15

Complex movement disorder in a patient with heterozygousYY1..:

Carminho‐Rodrigues, Maria Teresa ; Steel, Dora ; Sousa, Sergio B....
American Journal of Medical Genetics Part A. 182 (2020) 9 - p. 2129-2132 , 2020

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