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Mathijssen, Inge B.
215  results:
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1

Counseling couples at risk of having a child with homozygou..:

Tromp, Tycho R. ; Reijman, M. Doortje ; Wiegman, Albert...
Journal of Clinical Lipidology.  17 (2023)  2 - p. 291-296 , 2023
Link: https://doi.org/10.1016/..
 
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2

Patient-Specific TBX5-G125R Variant Induces Profound Transc..:

van Ouwerkerk, Antoinette F. ; Bosada, Fernanda M. ; van Duijvenboden, Karel...
Circulation.  145 (2022)  8 - p. 606-619 , 2022
Link: https://doi.org/10.1161/..
 
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3

Germline variants in HEY2 functional domains lead to congen..:

van Walree, Eva S. ; Dombrowsky, Gregor ; Jansen, Iris E....
Genetics in Medicine.  24 (2022)  4 - p. 965 , 2022
Link: https://doi.org/10.1016/..
 
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4

De novo variants in the PABP domain of PABPC1 lead to devel..:

Wegler, Meret ; Jia, Xiangbin ; Alders, Marielle...
Genetics in Medicine.  24 (2022)  8 - p. 1761-1773 , 2022
Link: https://doi.org/10.1016/..
 
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5

Couples' experiences with expanded carrier screening: evalu..:

van Dijke, Ivy ; Lakeman, Phillis ; Sabiri, Naoual...
European Journal of Human Genetics.  29 (2021)  8 - p. 1252-1258 , 2021
Link: https://doi.org/10.1038/..
 
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6

Germline variants in HEY2 functional domains lead to congen..:

van Walree, Eva S. ; Dombrowsky, Gregor ; Jansen, Iris E....
Genetics in Medicine.  23 (2021)  1 - p. 103-110 , 2021
Link: https://doi.org/10.1038/..
 
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7

TMEM218 dysfunction causes ciliopathies, including Joubert ..:

Van De Weghe, Julie C. ; Giordano, Jessica L. ; Mathijssen, Inge B....
Human Genetics and Genomics Advances.  2 (2021)  1 - p. 100016 , 2021
Link: https://doi.org/10.1016/..
 
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8

How will new genetic technologies, such as gene editing, ch..:

van Dijke, Ivy ; Lakeman, Phillis ; Mathijssen, Inge B....
European Journal of Human Genetics.  29 (2020)  1 - p. 39-50 , 2020
Link: https://doi.org/10.1038/..
 
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9

Preconception carrier screening for multiple disorders: eva..:

Mathijssen, Inge B. ; Holtkamp, Kim C. A. ; Ottenheim, Cecile P. E....
European Journal of Human Genetics.  26 (2018)  2 - p. 166-175 , 2018
Link: https://doi.org/10.1038/..
 
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10

Further delineation of Malan syndrome:

Priolo, Manuela ; Schanze, Denny ; Tatton-Brown, Katrin...
Human Mutation.  39 (2018)  9 - p. 1226-1237 , 2018
Link: https://doi.org/10.1002/..
 
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11

Homozygous DMRT2 variant associates with severe rib malform..:

Bouman, Arjan ; Waisfisz, Quinten ; Admiraal, Jop...
American Journal of Medical Genetics Part A.  176 (2018)  5 - p. 1216-1221 , 2018
Link: https://doi.org/10.1002/..
 
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12

Biallelic loss of function variants in COASY cause prenatal..:

van Dijk, Tessa ; Ferdinandusse, Sacha ; Ruiter, Jos P. N....
European Journal of Human Genetics.  26 (2018)  12 - p. 1752-1758 , 2018
Link: https://doi.org/10.1038/..
 
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13

With expanded carrier screening, founder populations run th..:

Mathijssen, Inge B. ; van Maarle, Merel C. ; Kleiss, Iris I.M....
Journal of Community Genetics.  8 (2017)  4 - p. 327-333 , 2017
Link: https://doi.org/10.1007/..
 
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14

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new aff..:

Fountain, Michael D. ; Aten, Emmelien ; Cho, Megan T....
Genetics in Medicine.  19 (2017)  1 - p. 45-52 , 2017
Link: https://doi.org/10.1038/..
 
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15

Factors for successful implementation of population-based e..:

Holtkamp, Kim C.A. ; Mathijssen, Inge B. ; Lakeman, Phillis...
The European Journal of Public Health.  , 2016
Link: https://doi.org/10.1093/..
 
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