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June 12, 2020
Harmonizing light transmission aggregometry in the Netherlands by implementation of the SSC-ISTH guideline
I C A Munnix, R Van Oerle, P Verhezen, et al.
The Lancet. Child & Adolescent Health
|
August 19, 2024
Comparison of clinical selection-based genetic testing with phenotype-agnostic extensive germline sequencing to diagnose genetic predisposition in children with cancer: a prospective diagnostic study
Jette J Bakhuizen, Freerk van Dijk, Marco J Koudijs, et al.
Journal of Medical Genetics
|
October 18, 2015
High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome
Leanne de Kock, Yu Chang Wang, Timothée Revil, et al.
JAMA Network Open
|
February 3, 2023
Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm
Jette J Bakhuizen, Saskia M J Hopman, Machteld I Bosscha, et al.
Familial Cancer
|
March 9, 2021
Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study
Floor A M Postema, Saskia M J Hopman, Corianne A J M de Borgie, et al.
Neuro-Oncology Advances
|
July 4, 2024
Medulloblastomas with <i>ELP1</i> pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window
Léa Guerrini-Rousseau, Julien Masliah-Planchon, Mathilde Filser, et al.
BMJ Open
|
January 23, 2017
Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre study
Floor A M Postema, Saskia M J Hopman, Corianne A J M de Borgie, et al.
Genetics in Medicine Open
|
December 13, 2024
<i>ARID1B</i>-related disorder in 87 adults: Natural history and self-sustainability
P J van der Sluijs, M Gösgens, A J M Dingemans, et al.
American Journal of Human Genetics
|
October 19, 2025
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.
American Journal of Human Genetics
|
May 17, 2023
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.
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Search research articles
Search
Showing results (61-70 of 71) with videos related to
Sort By:
Page
of 8
Platelets
|
June 12, 2020
Harmonizing light transmission aggregometry in the Netherlands by implementation of the SSC-ISTH guideline
I C A Munnix, R Van Oerle, P Verhezen, et al.
The Lancet. Child & Adolescent Health
|
August 19, 2024
Comparison of clinical selection-based genetic testing with phenotype-agnostic extensive germline sequencing to diagnose genetic predisposition in children with cancer: a prospective diagnostic study
Jette J Bakhuizen, Freerk van Dijk, Marco J Koudijs, et al.
Journal of Medical Genetics
|
October 18, 2015
High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome
Leanne de Kock, Yu Chang Wang, Timothée Revil, et al.
JAMA Network Open
|
February 3, 2023
Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm
Jette J Bakhuizen, Saskia M J Hopman, Machteld I Bosscha, et al.
Familial Cancer
|
March 9, 2021
Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study
Floor A M Postema, Saskia M J Hopman, Corianne A J M de Borgie, et al.
Neuro-Oncology Advances
|
July 4, 2024
Medulloblastomas with <i>ELP1</i> pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window
Léa Guerrini-Rousseau, Julien Masliah-Planchon, Mathilde Filser, et al.
BMJ Open
|
January 23, 2017
Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre study
Floor A M Postema, Saskia M J Hopman, Corianne A J M de Borgie, et al.
Genetics in Medicine Open
|
December 13, 2024
<i>ARID1B</i>-related disorder in 87 adults: Natural history and self-sustainability
P J van der Sluijs, M Gösgens, A J M Dingemans, et al.
American Journal of Human Genetics
|
October 19, 2025
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.
American Journal of Human Genetics
|
May 17, 2023
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.
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