E-LIB Suche - Ergebnisse für: Menke, Leonie A.

1

Diagnosis and management in Rubinstein-Taybi syndrome: firs..:

Lacombe, Didier ; Bloch-Zupan, Agnès ; Bredrup, Cecilie...
Journal of Medical Genetics. 61 (2024) 6 - p. 503-519 , 2024

2

Physical fitness in children with Marfan and Loeys-Dietz sy..:

Warnink-Kavelaars, Jessica ; de Koning, Lisanne E. ; van der Hulst, Annelies E....
European Journal of Pediatrics. 183 (2024) 5 - p. 2421-2429 , 2024

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

3

Somatic symptoms, pain, catastrophizing and the association..:

de Koning, Lisanne E. ; Warnink‐Kavelaars, Jessica ; van Rossum, Marion A....
American Journal of Medical Genetics Part A. 191 (2023) 7 - p. 1792-1803 , 2023

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

4

Severe early‐onset overgrowth in a case of pseudohypoparath..:

Vos, Niels ; Menke, Leonie A. ; Mooij, Christiaan F....
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1476-1478 , 2023

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

5

Natural history of KBG syndrome in a large European cohort:

Loberti, Lorenzo ; Bruno, Lucia Pia ; Granata, Stefania...
Human Molecular Genetics. 31 (2022) 24 - p. 4131-4142 , 2022

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

6

CDK13-related disorder: Report of a series of 18 previously..:

Rouxel, Flavien ; Relator, Raissa ; Kerkhof, Jennifer...
Genetics in Medicine. 24 (2022) 5 - p. 1096-1107 , 2022

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

7

Fatal gastrointestinal complications in Pitt‐Hopkins syndro..:

Koppen, Ilan J. N. ; Menke, Leonie A. ; Westra, Wytske M....
American Journal of Medical Genetics Part A. 191 (2022) 3 - p. 855-858 , 2022

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

8

Growth charts for Marfan syndrome in the Netherlands and an..:

Lauffer, Peter ; Pals, Gerard ; Zwinderman, Aeilko H....
American Journal of Medical Genetics Part A. 191 (2022) 2 - p. 479-489 , 2022

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

9

Growth of the aortic root in children and young adults with..:

van Elsäcker, Elroy ; Vink, Arja S ; Menke, Leonie A...
Open Heart. 9 (2022) 2 - p. e002097 , 2022

Link: https://doi.org/10.1136/..

10

Elements of morphology: Standard terminology for the trunk ..:

Biesecker, Leslie G. ; Adam, Margaret P. ; Chung, Brian Hon‐Yin...
American Journal of Medical Genetics Part A. 188 (2022) 11 - p. 3191-3228 , 2022

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

11

Heritable connective tissue disorders in childhood: Decreas..:

Warnink‐Kavelaars, Jessica ; de Koning, Lisanne E. ; Rombaut, Lies...
American Journal of Medical Genetics Part A. 188 (2022) 7 - p. 2096-2109 , 2022

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

12

Heritable Connective Tissue Disorders in Childhood: Increas..:

Warnink-Kavelaars, Jessica ; de Koning, Lisanne ; Rombaut, Lies...
Genes. 12 (2021) 6 - p. 831 , 2021

Link: https://doi.org/10.3390/..

13

Primrose syndrome: Characterization of the phenotype in 42 ..:

Melis, Daniela ; Carvalho, Daniel ; Barbaro‐Dieber, Tina...
Clinical Genetics. 97 (2020) 6 - p. 890-901 , 2020

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

14

Delineation of phenotypes and genotypes related to cohesin ..:

Krab, Lianne C. ; Marcos-Alcalde, Iñigo ; Assaf, Melissa...
Human Genetics. 139 (2020) 5 - p. 575-592 , 2020

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

15

Parenting a child with Marfan syndrome: Distress and everyd..:

Warnink‐Kavelaars, Jessica ; van Oers, Hedy A. ; Haverman, Lotte...
American Journal of Medical Genetics Part A. 185 (2020) 1 - p. 50-59 , 2020

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