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Trijnie Dijkhuizen

Showing results (1-10 of 37) with videos related to

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British Journal of Haematology|August 4, 2004
Translocations involving 6p22 in acute myeloid leukaemia at relapse: breakpoint characterization using microarray-based comparative genomic hybridizationJoëlle Tchinda, Trijnie Dijkhuizen, Pieter van der Vlies Pv, et al.
European Journal of Medical Genetics|March 31, 2009
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literatureAnnick Raas-Rothschild, Trijnie Dijkhuizen, Birgit Sikkema-Raddatz, et al.
Orphanet Journal of Rare Diseases|March 20, 2023
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1Aafke Engwerda, Wilhelmina S Kerstjens-Frederikse, Nicole Corsten-Janssen, et al.
Orphanet Journal of Rare Diseases|March 25, 2023
The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature reviewEleana Rraku, Wilhelmina S Kerstjens-Frederikse, Morris A Swertz, et al.
American Journal of Medical Genetics. Part A|December 21, 2022
Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1Hanna Breet, Yvonne J Vos, Trijnie Dijkhuizen, et al.
Circulation. Genomic and Precision Medicine|September 6, 2023
Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic <i>ALPK3</i>-Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant SpectrumLaura A Grutters, Jolien S Klein Wassink-Ruiter, Trijnie Dijkhuizen, et al.
European Journal of Medical Genetics|March 10, 2009
A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY femaleAnneke van Silfhout, Annemieke M Boot, Trijnie Dijkhuizen, et al.
Cancer Genetics and Cytogenetics|September 19, 2002
Molecular cytogenetic analysis of clustered sporadic and familial renal cell carcinoma-associated 3q13 approximately q22 breakpointsDaniëlle Bodmer, Irene Janssen, Yvonne Jonkers, et al.
BMC Medical Genomics|November 30, 2019
Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticistsJulia El Mecky, Lennart Johansson, Mirjam Plantinga, et al.
European Journal of Medical Genetics|June 18, 2010
Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletionErica H Gerkes, Roel Hordijk, Trijnie Dijkhuizen, et al.
Pageof 4

Showing results (1-10 of 37) with videos related to

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Pageof 4
British Journal of Haematology|August 4, 2004
Translocations involving 6p22 in acute myeloid leukaemia at relapse: breakpoint characterization using microarray-based comparative genomic hybridizationJoëlle Tchinda, Trijnie Dijkhuizen, Pieter van der Vlies Pv, et al.
European Journal of Medical Genetics|March 31, 2009
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literatureAnnick Raas-Rothschild, Trijnie Dijkhuizen, Birgit Sikkema-Raddatz, et al.
Orphanet Journal of Rare Diseases|March 20, 2023
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1Aafke Engwerda, Wilhelmina S Kerstjens-Frederikse, Nicole Corsten-Janssen, et al.
Orphanet Journal of Rare Diseases|March 25, 2023
The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature reviewEleana Rraku, Wilhelmina S Kerstjens-Frederikse, Morris A Swertz, et al.
American Journal of Medical Genetics. Part A|December 21, 2022
Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1Hanna Breet, Yvonne J Vos, Trijnie Dijkhuizen, et al.
Circulation. Genomic and Precision Medicine|September 6, 2023
Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic <i>ALPK3</i>-Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant SpectrumLaura A Grutters, Jolien S Klein Wassink-Ruiter, Trijnie Dijkhuizen, et al.
European Journal of Medical Genetics|March 10, 2009
A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY femaleAnneke van Silfhout, Annemieke M Boot, Trijnie Dijkhuizen, et al.
Cancer Genetics and Cytogenetics|September 19, 2002
Molecular cytogenetic analysis of clustered sporadic and familial renal cell carcinoma-associated 3q13 approximately q22 breakpointsDaniëlle Bodmer, Irene Janssen, Yvonne Jonkers, et al.
BMC Medical Genomics|November 30, 2019
Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticistsJulia El Mecky, Lennart Johansson, Mirjam Plantinga, et al.
European Journal of Medical Genetics|June 18, 2010
Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletionErica H Gerkes, Roel Hordijk, Trijnie Dijkhuizen, et al.
Pageof 4