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van der Zwaag, Bert
131  results:
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1

Medullary Sponge Kidney and Its Relationship with Primary D..:

van den Berg, Gerrit ; Claus, Laura R. ; van der Zwaag, Bert...
Nephron.  , 2024
Link: https://doi.org/10.1159/..
 
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2

GeNepher data- and biobank for patients with (suspected) ge..:

Claus, Laura R. ; Lekkerkerker, Iris ; van der Zwaag, Bert...
Rare.  2 (2024)  - p. 100030 , 2024
Link: https://doi.org/10.1016/..
 
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3

The Importance of Copy Number Variant Analysis in Patients ..:

Claus, Laura R. ; Ernst, Robert F. ; Elferink, Martin G....
Kidney International Reports.  , 2024
Link: https://doi.org/10.1016/..
 
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4

Identification of candidate genes for developmental colour ..:

Nijboer, Tanja C. W. ; Hessel, Ellen V. S. ; van Haaften, Gijs W....
PLOS ONE.  18 (2023)  9 - p. e0290013 , 2023
Link: https://doi.org/10.1371/..
 
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5

Novel MUC1 variant identified by massively parallel sequenc..:

de Haan, Amber ; van Eerde, Albertien M. ; Eijgelsheim, Mark...
Kidney International.  103 (2023)  5 - p. 986-989 , 2023
Link: https://doi.org/10.1016/..
 
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6

KidneyNetwork: using kidney-derived gene expression data to..:

Boulogne, Floranne ; Claus, Laura R. ; Wiersma, Henry...
European Journal of Human Genetics.  31 (2023)  11 - p. 1300-1308 , 2023
Link: https://doi.org/10.1038/..
 
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7

The Use of Next-generation Sequencing in the Diagnosis of R..:

Roy, Noémi B. A. ; Da Costa, Lydie ; Russo, Roberta...
HemaSphere.  6 (2022)  6 - p. e739 , 2022
Link: https://doi.org/10.1097/..
 
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8

The use of next‐generation sequencing in the diagnosis of r..:

Roy, Noémi B. A. ; Da Costa, Lydie ; Russo, Roberta...
British Journal of Haematology.  198 (2022)  3 - p. 459-477 , 2022
Link: https://doi.org/10.1111/..
 
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9

ATP6V0C variants impair V-ATPase function causing a neurode..:

Mattison, Kari A ; Tossing, Gilles ; Mulroe, Fred...
Brain.  146 (2022)  4 - p. 1357-1372 , 2022
Link: https://doi.org/10.1093/..
 
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10

MO034: Novel MUC1 variant identified by massively parallel ..:

de Haan, Amber ; Eijgelsheim, Mark ; Rump, Patrick...
Nephrology Dialysis Transplantation.  37 (2022)  Supplement_3 - p. , 2022
Link: https://doi.org/10.1093/..
 
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11

Diagnostic yield of massively parallel sequencing in patien..:

de Haan, Amber ; Eijgelsheim, Mark ; Vogt, Liffert...
BMJ Open.  12 (2022)  4 - p. e057829 , 2022
Link: https://doi.org/10.1136/..
 
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12

Heterozygosity for bisphosphoglycerate mutase deficiency ex..:

van Dijk, Myrthe J. ; van Oirschot, Brigitte A. ; Stam‐Slob, Manon C....
British Journal of Haematology.  200 (2022)  2 - p. 249-255 , 2022
Link: https://doi.org/10.1111/..
 
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13

FC 011KIDNEYNETWORK: USING KIDNEY DERIVED GENE EXPRESSION D..:

Boulogne, Floranne ; Claus, Laura ; Wiersma, Henry...
Nephrology Dialysis Transplantation.  36 (2021)  Supplement_1 - p. , 2021
Link: https://doi.org/10.1093/..
 
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14

Identifying underlying medical causes of pediatric obesity:..:

Kleinendorst, Lotte ; Abawi, Ozair ; van der Voorn, Bibian...
PLOS ONE.  15 (2020)  12 - p. e0244508 , 2020
Link: https://doi.org/10.1371/..
 
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15

Genetics-first approach improves diagnostics of ESKD patien..:

Snoek, Rozemarijn ; van Jaarsveld, Richard H ; Nguyen, Tri Q...
Nephrology Dialysis Transplantation.  37 (2020)  2 - p. 349-357 , 2020
Link: https://doi.org/10.1093/..
 
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