Emilia K Bijlsma
3PUBLICATIONS
14CO-AUTHORS
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Publications (3)
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|Apr 09, 2026
Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntington's disease.Emilia K Bijlsma, Tamara T Koopmann, Susanne T de Bot
|Jan 30, 2026
Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension.Carrie L Welch, Meriel McEntagart, Shahin Moledina
|Oct 27, 2023
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.Michelle van Slobbe, Arie van Haeringen, Lisenka E L M Vissers
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Frequent Collaborators
1 joint publications
Arie van Haeringen
1 joint publications
Lisenka E L M Vissers
1 joint publications
Julie W Rutten
1 joint publications
Manon Suerink
1 joint publications
Esther A R Nibbeling
1 joint publications
Claudia A L Ruivenkamp
1 joint publications
Saskia Koene
1 joint publications
Carrie L Welch
1 joint publications
Meriel McEntagart
1 joint publications
Cara Morgan
