E-LIB Suche - Ergebnisse für: van den Boogaard, Marie‐Jose H.

1

De novo putative loss‐of‐function variants inTAF4are associ..:

Janssen, Beau D. E. ; van den Boogaard, Marie‐Jose H. ; Lichtenbelt, Klaske...
Human Mutation. 43 (2022) 12 - p. 1844-1851 , 2022

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

2

Gastrointestinal symptoms in patients with isolated oligodo..:

Ross, Jamila N. ; Ruigrok, Lisanne C. ; Fennis, Willem M.M....
Oral Diseases. 29 (2021) 1 - p. 300-307 , 2021

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

3

HNRNPH1‐related syndromic intellectual disability: Seven ad..:

Reichert, Sara C. ; Li, Rachel ; A. Turner, Scott...
Clinical Genetics. 98 (2020) 1 - p. 91-98 , 2020

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

4

The ontogeny of Robin sequence:

Logjes, Robrecht J. H. ; Breugem, Corstiaan C. ; Van Haaften, Gijs...
American Journal of Medical Genetics Part A. 176 (2018) 6 - p. 1349-1368 , 2018

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

5

Birth prevalence of Robin sequence in the Netherlands from ..:

Paes, Emma C. ; van Nunen, Daan P. F. ; Basart, Hanneke...
American Journal of Medical Genetics Part A. 167 (2015) 9 - p. 1972-1982 , 2015

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

6

Etiology and pathogenesis of robin sequence in a large Dutc..:

Basart, Hanneke ; Paes, Emma C. ; Maas, Saskia M....
American Journal of Medical Genetics Part A. 167 (2015) 9 - p. 1983-1992 , 2015

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

7

Genotype‐phenotype correlation in adult‐onset acid maltase ..:

Wokke, John H. J. ; Ausems, Margreet G. E. M. ; van den Boogaard, Marie‐José H....
Annals of Neurology. 38 (1995) 3 - p. 450-454 , 1995

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

8

Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutc..:

Vansenne, Fleur ; Fock, Johanna M. ; Stolte-Dijkstra, Irene...
European Journal of Paediatric Neurology. 41 (2022) - p. 91-98 , 2022

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

9

Clinical Practice Guidelines on the Treatment of Patients w..:

Mink van der Molen, Aebele B. ; van Breugel, Johanna M. M. ; Janssen, Nard G....
Journal of Clinical Medicine. 10 (2021) 21 - p. 4813 , 2021

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

10

Clinical Characteristics and Genetic Etiology of Children W..:

Plug, Marielle B. ; van Wijngaarden, Vivian ; de Wilde, Hester...
Frontiers in Pediatrics. 9 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

11

Distinct effects on mRNA export factor GANP underlie neurol..:

Tyynismaa, Henna ; Ylikallio, Emil ; Stewart, Murray...
Human Molecular Genetics. 29 (2020) 9 - p. 1426-1439 , 2020

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

12

Deletions and loss-of-function variants in TP63 associated ..:

Khandelwal, Kriti D. ; van den Boogaard, Marie-José H. ; Mehrem, Sarah L....
European Journal of Human Genetics. 27 (2019) 7 - p. 1101-1112 , 2019

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

13

Mortality in Robin sequence: identification of risk factors:

Logjes, Robrecht J. H. ; Haasnoot, Maartje ; Lemmers, Petra M. A....
European Journal of Pediatrics. 177 (2018) 5 - p. 781-789 , 2018

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

14

Polyhydramnios in isolated oral cleft pregnancies: incidenc..:

Depla, Anne L. ; Breugem, Corstiaan C. ; van der Horst, Chantal M. A. M....
Prenatal Diagnosis. 37 (2017) 2 - p. 162-167 , 2017

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

15

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild..:

Ylikallio, Emil ; Woldegebriel, Rosa ; Tumiati, Manuela...
Brain. 140 (2017) 8 - p. 2093-2103 , 2017

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