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Birgit Sikkema-Raddatz

Showing results (21-30 of 60) with videos related to

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European Journal of Human Genetics : EJHG|April 30, 2009
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanismAnneke T van Silfhout, Peter C van den Akker, Trijnie Dijkhuizen, et al.
Clinical Chemistry|December 1, 2020
Targeted RNA-Sequencing Enables Detection of Relevant Translocations and Single Nucleotide Variants and Provides a Method for Classification of Hematological Malignancies-RANKINGKim de Lange, Eddy N de Boer, Anneke Bosga, et al.
Gene|October 21, 2022
SEPT-GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnosticsMohamed Z Alimohamed, Ludolf G Boven, Krista K van Dijk, et al.
American Journal of Medical Genetics. Part A|October 13, 2006
FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletionsTrijnie Dijkhuizen, Ton van Essen, Pieter van der Vlies, et al.
European Journal of Human Genetics : EJHG|November 19, 2009
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndromeMarjolein H Willemsen, Bridget A Fernandez, Carlos A Bacino, et al.
European Journal of Medical Genetics|September 24, 2005
Application of a comprehensive subtelomere array in clinical diagnosis of mental retardationKlaas Kok, Trijnie Dijkhuizen, Yolanthe E Swart, et al.
Neurology. Genetics|December 7, 2023
Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar AtaxiaFatemeh Ghorbani, Eddy N de Boer, Marloes Benjamins-Stok, et al.
Metabolomics : Official Journal of the Metabolomic Society|June 25, 2026
Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disordersAbigail Veldman, C Edel Arar, M B Gea Kiewiet, et al.
European Journal of Human Genetics : EJHG|June 30, 2011
Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysisIlse Feenstra, Nicolien Hanemaaijer, Birgit Sikkema-Raddatz, et al.
Clinical Chemistry|January 15, 2013
Successful noninvasive trisomy 18 detection using single molecule sequencingJessica M E van den Oever, Sahila Balkassmi, Lennart F Johansson, et al.
Pageof 6

Showing results (21-30 of 60) with videos related to

Sort By:
Pageof 6
European Journal of Human Genetics : EJHG|April 30, 2009
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanismAnneke T van Silfhout, Peter C van den Akker, Trijnie Dijkhuizen, et al.
Clinical Chemistry|December 1, 2020
Targeted RNA-Sequencing Enables Detection of Relevant Translocations and Single Nucleotide Variants and Provides a Method for Classification of Hematological Malignancies-RANKINGKim de Lange, Eddy N de Boer, Anneke Bosga, et al.
Gene|October 21, 2022
SEPT-GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnosticsMohamed Z Alimohamed, Ludolf G Boven, Krista K van Dijk, et al.
American Journal of Medical Genetics. Part A|October 13, 2006
FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletionsTrijnie Dijkhuizen, Ton van Essen, Pieter van der Vlies, et al.
European Journal of Human Genetics : EJHG|November 19, 2009
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndromeMarjolein H Willemsen, Bridget A Fernandez, Carlos A Bacino, et al.
European Journal of Medical Genetics|September 24, 2005
Application of a comprehensive subtelomere array in clinical diagnosis of mental retardationKlaas Kok, Trijnie Dijkhuizen, Yolanthe E Swart, et al.
Neurology. Genetics|December 7, 2023
Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar AtaxiaFatemeh Ghorbani, Eddy N de Boer, Marloes Benjamins-Stok, et al.
Metabolomics : Official Journal of the Metabolomic Society|June 25, 2026
Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disordersAbigail Veldman, C Edel Arar, M B Gea Kiewiet, et al.
European Journal of Human Genetics : EJHG|June 30, 2011
Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysisIlse Feenstra, Nicolien Hanemaaijer, Birgit Sikkema-Raddatz, et al.
Clinical Chemistry|January 15, 2013
Successful noninvasive trisomy 18 detection using single molecule sequencingJessica M E van den Oever, Sahila Balkassmi, Lennart F Johansson, et al.
Pageof 6