E-LIB Suche - Ergebnisse für: Meerschaut, Ilse

1

Myhre syndrome in adulthood: clinical variability and emerg..:

Vanbelleghem, Eva ; Van Damme, Tim ; Beyens, Aude...
European Journal of Human Genetics. 32 (2024) 9 - p. 1086-1094 , 2024

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

2

Correction: Myhre syndrome in adulthood: clinical variabili..:

Vanbelleghem, Eva ; Van Damme, Tim ; Beyens, Aude...
European Journal of Human Genetics. , 2024

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

3

Exploring the Mutational Landscape of Isolated Congenital H..:

Meerschaut, Ilse ; Steyaert, Wouter ; Bové, Thierry...
Genes. 13 (2022) 7 - p. 1214 , 2022

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

4

Expanded cardiovascular phenotype of Myhre syndrome include..:

Cappuccio, Gerarda ; Brunetti‐Pierri, Nicola ; Clift, Paul...
American Journal of Medical Genetics Part A. 188 (2022) 5 - p. 1384-1395 , 2022

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

5

A Reassessment of Copy Number Variations in Congenital Hear..:

Meerschaut, Ilse ; Vergult, Sarah ; Dheedene, Annelies...
Genes. 12 (2021) 7 - p. 1048 , 2021

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

6

A clinical scoring system for congenital contractural arach..:

Meerschaut, Ilse ; De Coninck, Shana ; Steyaert, Wouter...
Genetics in Medicine. 22 (2020) 1 - p. 124-131 , 2020

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

7

Myhre syndrome: A first familial recurrence and broadening ..:

Meerschaut, Ilse ; Beyens, Aude ; Steyaert, Wouter...
American Journal of Medical Genetics Part A. 179 (2019) 12 - p. 2494-2499 , 2019

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

8

Severe congenital neutropenia with neurological impairment ..:

Meerschaut, Ilse ; Bordon, Victoria ; Dhooge, Catharina...
American Journal of Medical Genetics Part A. 167 (2015) 12 - p. 3214-3218 , 2015

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

9

Mechanism of KMT5B haploinsufficiency in neurodevelopment i..:

Sheppard, Sarah ; Bryant, Laura ; Wickramasekara, Rochelle...
info:eu-repo/semantics/altIdentifier/doi/10.1126/sciadv.ade1463. , 2023

Link: https://hal.science/hal-..

10

Mechanism of KMT5B haploinsufficiency in neurodevelopment i..:

Sheppard, Sarah ; Bryant, Laura ; Wickramasekara, Rochelle...
info:eu-repo/semantics/altIdentifier/doi/10.1126/sciadv.ade1463. , 2023

Link: https://hal.science/hal-..

11

Mechanism of KMT5B haploinsufficiency in neurodevelopment i..:

Sheppard, Sarah E ; Bryant, Laura ; Wickramasekara, Rochelle N...
https://pure.eur.nl/en/publications/6d222e2f-b72e-4d41-98ba-7a6d43099fa4. , 2023

Link: https://pure.eur.nl/en/p..

12

Mechanism of KMT5B haploinsufficiency in neurodevelopment i..:

Sheppard, Sarah E ; Bryant, Laura ; Wickramasekara, Rochelle N...
https://boris.unibe.ch/179893/. , 2023

Link: https://boris.unibe.ch/1..

13

Mechanism of KMT5B haploinsufficiency in neurodevelopment i..:

Sheppard, Sarah ; Bryant, Laura ; Wickramasekara, Rochelle...
info:eu-repo/semantics/altIdentifier/doi/10.1126/sciadv.ade1463. , 2023

Link: https://hal.science/hal-..

14

Mechanism of KMT5B haploinsufficiency in neurodevelopment i..:

Sheppard, Sarah E ; Bryant, Laura ; Wickramasekara, Rochelle N...
https://research.manchester.ac.uk/en/publications/064bf450-6a7b-4d0d-8439-cb8af9828bf7. , 2023

Link: https://research.manches..

15

Mechanism of KMT5B haploinsufficiency in neurodevelopment i..:

Sheppard, Sarah ; Bryant, Laura ; Wickramasekara, Rochelle...
info:eu-repo/semantics/altIdentifier/doi/10.1126/sciadv.ade1463. , 2023

Link: https://hal.science/hal-..