E-LIB Suche - Ergebnisse für: Leenders, Erika - Sprache DE

Personensuche X

Sortierung: Relevanz

Sortierung: Jahr

1

Diagnosing, discarding, or de-VUSsing: A practical guide to..:

Ferreira, Elise A. ; Veenvliet, Annemarijne R.J. ; Engelke, Udo F.H....
Genetics in Medicine. 25 (2023) 1 - p. 125-134 , 2023

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

2

The most important problems and needs of rasopathy patients..:

Tiemens, Dagmar K. ; Kleimeier, Lotte ; Leenders, Erika...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

3

Differentiating primary sarcomeric hypertrophic cardiomyopa..:

Hauptmeijer, Robert W. L. ; Lippert, Lea ; ten Cate, Floris E. A. Udink...
Cardiology in the Young. 34 (2023) 3 - p. 597-603 , 2023

Link: https://doi.org/10.1017/..

4

Cognitive Phenotype and Psychopathology in Noonan Syndrome ..:

Wingbermühle, Ellen ; Roelofs, Renée L. ; Oomens, Wouter...
Journal of Clinical Medicine. 11 (2022) 16 - p. 4735 , 2022

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

5

Feeding Problems in Patients with Noonan Syndrome: A Narrat..:

Tiemens, Dagmar K. ; van Haaften, Leenke ; Leenders, Erika...
Journal of Clinical Medicine. 11 (2022) 3 - p. 754 , 2022

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

6

Lymphatic Phenotype of Noonan Syndrome: Innovative Diagnosi..:

Kleimeier, Lotte E. R. ; van Schaik, Caroline ; Leenders, Erika...
Journal of Clinical Medicine. 11 (2022) 11 - p. 3128 , 2022

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

7

The added value of the electrocardiogram in Noonan syndrome:

Vos, Eefke ; Leenders, Erika ; Werkman, Sterre R...
Cardiology in the Young. 32 (2021) 6 - p. 936-943 , 2021

Link: https://doi.org/10.1017/..

8

Truncating SRCAP variants outside the Floating-Harbor syndr..:

Rots, Dmitrijs ; Chater-Diehl, Eric ; Dingemans, Alexander J.M....
The American Journal of Human Genetics. 108 (2021) 6 - p. 1053-1068 , 2021

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

9

Patient engagement in the design of clinical research in No..:

Tiemens, Dagmar K. ; Nugteren, Jacqueline ; Leenders, Erika...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

10

Comprehensive study of 28 individuals with SIN3A-related di..:

Balasubramanian, Meena ; Dingemans, Alexander J. M. ; Albaba, Shadi...
European Journal of Human Genetics. 29 (2021) 4 - p. 625-636 , 2021

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

11

Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorde..:

Sleutjes, Julia ; Kleimeier, Lotte ; Leenders, Erika..
Molecular Syndromology. 13 (2021) 1 - p. 1-11 , 2021

Link: https://doi.org/10.1159/..

12

Variants of SOS2 are a rare cause of Noonan syndrome with p..:

Lissewski, Christina ; Chune, Valérie ; Pantaleoni, Francesca...
European Journal of Human Genetics. 29 (2020) 1 - p. 51-60 , 2020

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

13

Young children with Noonan syndrome: evaluation of feeding ..:

Draaisma, Jos M. T. ; Drossaers, Joris ; van den Engel-Hoek, Lenie..
European Journal of Pediatrics. 179 (2020) 11 - p. 1683-1688 , 2020

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

14

Trio-based whole exome sequencing in patients with suspecte..:

Hebert, Anne ; Simons, Annet ; Schuurs-Hoeijmakers, Janneke HM...
eLife. 11 (2022) - p. , 2022

Link: https://doi.org/10.7554/..

15

Nerve enlargement in patients with Noonan syndrome: A retro..:

Draaisma, Fieke ; Leenders, Erika K. S. M. ; Erasmus, Corrie E....
American Journal of Medical Genetics Part A. , 2024

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

1-15