I agree that this site is using cookies. You can find further informations here.
X
van Bever, Yolande
138  results:
Search for persons X
?
1

Response to letter to the editor: 'Gonadal tumour screening..:

Hannema, Sabine E. ; Wolffenbuttel, Katja P. ; van Bever, Yolande...
Clinical Endocrinology.  100 (2024)  5 - p. 466-467 , 2024
Link: https://doi.org/10.1111/..
 
?
2

Spleen function is reduced in individuals with NR5A1 varian..:

Cools, Martine ; Grijp, Celien ; Neirinck, Jana...
European Journal of Endocrinology.  190 (2023)  1 - p. 34-43 , 2023
Link: https://doi.org/10.1093/..
 
?
3

Undetectable anti‐Mullerian hormone and inhibin B do not pr..:

Hannema, Sabine E. ; Wolffenbuttel, Katja P. ; van Bever, Yolande...
Clinical Endocrinology.  99 (2023)  1 - p. 58-63 , 2023
Link: https://doi.org/10.1111/..
 
?
4

Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Pa..:

Edel, Gabriëla G. ; Hol, Janna A. ; Slot, Evelien...
Laboratory Investigation.  103 (2023)  11 - p. 100233 , 2023
Link: https://doi.org/10.1016/..
 
?
5

Functional Assays Combined with Pre-mRNA-Splicing Analysis ..:

Douben, Hannie ; Hoogeveen-Westerveld, Marianne ; Nellist, Mark...
Human Mutation.  2023 (2023)  - p. 1-14 , 2023
Link: https://doi.org/10.1155/..
 
?
6

High‐yield identification of pathogenicNF1variants by skin ..:

Douben, Hannie C. W. ; Nellist, Mark ; van Unen, Leontine...
Human Mutation.  43 (2022)  12 - p. 2130-2140 , 2022
Link: https://doi.org/10.1002/..
 
?
7

TheMAP3K7gene: Further delineation of clinical characterist..:

van Woerden, Geeske M. ; Senden, Richelle ; de Konink, Charlotte...
Human Mutation.  43 (2022)  10 - p. 1377-1395 , 2022
Link: https://doi.org/10.1002/..
 
?
8

Prenatal ultrasound finding of atypical genitalia: Counseli..:

van Bever, Yolande ; Groenenberg, Irene A. L. ; Knapen, Maarten F. C. M....
Prenatal Diagnosis.  43 (2022)  2 - p. 162-182 , 2022
Link: https://doi.org/10.1002/..
 
?
9

Stankiewicz-Isidor syndrome: expanding the clinical and mol..:

Isidor, Bertrand ; Ebstein, Frédéric ; Hurst, Anna...
Genetics in Medicine.  24 (2022)  1 - p. 179-191 , 2022
Link: https://doi.org/10.1016/..
 
?
10

Intrinsic Cellular Susceptibility to Barrett's Esophagus in..:

ten Kate, Chantal A. ; de Klein, Annelies ; de Graaf, Bianca M....
Cancers.  14 (2022)  3 - p. 513 , 2022
Link: https://doi.org/10.3390/..
 
?
11

Heritability and De Novo Mutations in Oesophageal Atresia a..:

Brosens, Erwin ; Brouwer, Rutger W. W. ; Douben, Hannie...
Genes.  12 (2021)  10 - p. 1595 , 2021
Link: https://doi.org/10.3390/..
 
?
12

Isobutyryl‐CoA dehydrogenase deficiency associated with aut..:

Eleftheriadou, Maria ; Medici‐ van den Herik, Evita ; Stuurman, Kyra...
Molecular Genetics & Genomic Medicine.  9 (2021)  2 - p. , 2021
Link: https://doi.org/10.1002/..
 
?
13

Correction: DOORS syndrome and a recurrent truncating ATP6V..:

Beauregard-Lacroix, Eliane ; Pacheco-Cuellar, Guillermo ; Ajeawung, Norbert F....
Genetics in Medicine.  23 (2021)  1 - p. 237 , 2021
Link: https://doi.org/10.1038/..
 
?
14

DOORS syndrome and a recurrent truncating ATP6V1B2 variant:

Beauregard-Lacroix, Eliane ; Pacheco-Cuellar, Guillermo ; Ajeawung, Norbert F....
Genetics in Medicine.  23 (2021)  1 - p. 149-154 , 2021
Link: https://doi.org/10.1038/..
 
?
15

Size matters: Large copy number losses in Hirschsprung dise..:

Kuil, Laura E. ; MacKenzie, Katherine C. ; Tang, Clara S....
PLOS Genetics.  17 (2021)  8 - p. e1009698 , 2021
Link: https://doi.org/10.1371/..
 
1-15