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Emilia K Bijlsma

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Archives of Gynecology and Obstetrics|June 27, 2007
A rare occurrence of trisomy 18 and trisomy 21 in a dizygotic twin pregnancyHarold M P Pelikan, Emilia K Bijlsma, Willem J van Wijngaarden
Journal of Medical Genetics|April 9, 2026
Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntington's diseaseEmilia K Bijlsma, Tamara T Koopmann, Susanne T de Bot, et al.
Journal of Huntington'S Disease|September 24, 2015
Is There Convincing Evidence that Intermediate Repeats in the HTT Gene Cause Huntington's Disease?Mayke Oosterloo, Martine J Van Belzen, Emilia K Bijlsma, et al.
Brain Sciences|March 12, 2020
Diagnosing Juvenile Huntington's Disease: An Explorative Study among Caregivers of Affected ChildrenMayke Oosterloo, Emilia K Bijlsma, Christine de Die-Smulders, et al.
Parkinsonism & Related Disorders|December 12, 2018
Clinical and genetic characteristics of late-onset Huntington's diseaseMayke Oosterloo, Emilia K Bijlsma, Sander Mj van Kuijk, et al.
Orphanet Journal of Rare Diseases|April 14, 2016
Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire systemChanna F de Winter, Melanie Baas, Emilia K Bijlsma, et al.
Clinical Dysmorphology|March 6, 2023
The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patientsRebecca L Poole, Emilia K Bijlsma, Gunnar Houge, et al.
Journal of Huntington'S Disease|January 29, 2019
Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both PartnersAad Tibben, Wybo J Dondorp, Guido M de Wert, et al.
European Journal of Human Genetics : EJHG|May 15, 2020
Predictive genetic testing in Huntington's disease: should a neurologist be involved?Mayke Oosterloo, Emilia K Bijlsma, Corien C Verschuuren-Bemelmans, et al.
Journal of Medical Genetics|July 31, 2013
CAG size-specific risk estimates for intermediate allele repeat instability in Huntington diseaseAlicia Semaka, Chris Kay, Crystal Doty, et al.
Pageof 9

Showing results (1-10 of 83) with videos related to

Sort By:
Pageof 9
Archives of Gynecology and Obstetrics|June 27, 2007
A rare occurrence of trisomy 18 and trisomy 21 in a dizygotic twin pregnancyHarold M P Pelikan, Emilia K Bijlsma, Willem J van Wijngaarden
Journal of Medical Genetics|April 9, 2026
Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntington's diseaseEmilia K Bijlsma, Tamara T Koopmann, Susanne T de Bot, et al.
Journal of Huntington'S Disease|September 24, 2015
Is There Convincing Evidence that Intermediate Repeats in the HTT Gene Cause Huntington's Disease?Mayke Oosterloo, Martine J Van Belzen, Emilia K Bijlsma, et al.
Brain Sciences|March 12, 2020
Diagnosing Juvenile Huntington's Disease: An Explorative Study among Caregivers of Affected ChildrenMayke Oosterloo, Emilia K Bijlsma, Christine de Die-Smulders, et al.
Parkinsonism & Related Disorders|December 12, 2018
Clinical and genetic characteristics of late-onset Huntington's diseaseMayke Oosterloo, Emilia K Bijlsma, Sander Mj van Kuijk, et al.
Orphanet Journal of Rare Diseases|April 14, 2016
Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire systemChanna F de Winter, Melanie Baas, Emilia K Bijlsma, et al.
Clinical Dysmorphology|March 6, 2023
The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patientsRebecca L Poole, Emilia K Bijlsma, Gunnar Houge, et al.
Journal of Huntington'S Disease|January 29, 2019
Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both PartnersAad Tibben, Wybo J Dondorp, Guido M de Wert, et al.
European Journal of Human Genetics : EJHG|May 15, 2020
Predictive genetic testing in Huntington's disease: should a neurologist be involved?Mayke Oosterloo, Emilia K Bijlsma, Corien C Verschuuren-Bemelmans, et al.
Journal of Medical Genetics|July 31, 2013
CAG size-specific risk estimates for intermediate allele repeat instability in Huntington diseaseAlicia Semaka, Chris Kay, Crystal Doty, et al.
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