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van Bever, Yolande
138
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Online (138)
Mediatypes
Articles (Online) (44)
OpenAccess-fulltext (94)
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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/..
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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/..
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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/..
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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/..
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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/..
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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/..
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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