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Nature Genetics
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June 26, 2026
Near-perfect genome sequencing in medical genetics
Quentin Sabbagh, Christian Gilissen, Helger G Yntema, et al.
American Journal of Human Genetics
|
April 30, 2025
Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience
Thiloka Ratnaike, Ida Paramonov, Catarina Olimpio, et al.
Immunological Reviews
|
July 9, 2020
Primary immunodeficiencies in cytosolic pattern-recognition receptor pathways: Toward host-directed treatment strategies
Caspar I van der Made, Alexander Hoischen, Mihai G Netea, et al.
Genome Medicine
|
August 19, 2022
Clinical implications of host genetic variation and susceptibility to severe or critical COVID-19
Caspar I van der Made, Mihai G Netea, Frank L van der Veerdonk, et al.
American Journal of Medical Genetics
|
September 5, 2002
Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations
Hartmut Engels, Kristin Bosse, Antje Ehrbrecht, et al.
Acta Neuropathologica
|
March 7, 2009
Rosetted glioneuronal tumor of the spine with overtly anaplastic histological features
Martin Scholz, Alexander Hoischen, Bernhard Radlwimmer, et al.
Acta Neuropsychiatrica
|
November 12, 2014
An adult female patient with ring chromosome 21: behavioural phenotype and results of high-resolution molecular characterisation
Willem M A Verhoeven, Bregje Van Bon, Jos I M Egger, et al.
Leukemia & Lymphoma
|
October 24, 2017
Accurate detection of low-level mosaic mutations in pediatric acute lymphoblastic leukemia using single molecule tagging and deep-sequencing
Jiangyan Yu, Željko Antić, Simon V van Reijmersdal, et al.
British Journal of Haematology
|
January 7, 2012
Amplified segment in the 'Down syndrome critical region' on HSA21 shared between Down syndrome and euploid AML-M0 excludes RUNX1, ERG and ETS2
Claudia Canzonetta, Alexander Hoischen, Emanuela Giarin, et al.
BJU International
|
August 3, 2007
Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization
Heiko Reutter, Alexander Hoischen, Michael Ludwig, et al.
Page
of 25
Search research articles
Search
Showing results (11-20 of 249) with videos related to
Sort By:
Page
of 25
Nature Genetics
|
June 26, 2026
Near-perfect genome sequencing in medical genetics
Quentin Sabbagh, Christian Gilissen, Helger G Yntema, et al.
American Journal of Human Genetics
|
April 30, 2025
Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience
Thiloka Ratnaike, Ida Paramonov, Catarina Olimpio, et al.
Immunological Reviews
|
July 9, 2020
Primary immunodeficiencies in cytosolic pattern-recognition receptor pathways: Toward host-directed treatment strategies
Caspar I van der Made, Alexander Hoischen, Mihai G Netea, et al.
Genome Medicine
|
August 19, 2022
Clinical implications of host genetic variation and susceptibility to severe or critical COVID-19
Caspar I van der Made, Mihai G Netea, Frank L van der Veerdonk, et al.
American Journal of Medical Genetics
|
September 5, 2002
Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations
Hartmut Engels, Kristin Bosse, Antje Ehrbrecht, et al.
Acta Neuropathologica
|
March 7, 2009
Rosetted glioneuronal tumor of the spine with overtly anaplastic histological features
Martin Scholz, Alexander Hoischen, Bernhard Radlwimmer, et al.
Acta Neuropsychiatrica
|
November 12, 2014
An adult female patient with ring chromosome 21: behavioural phenotype and results of high-resolution molecular characterisation
Willem M A Verhoeven, Bregje Van Bon, Jos I M Egger, et al.
Leukemia & Lymphoma
|
October 24, 2017
Accurate detection of low-level mosaic mutations in pediatric acute lymphoblastic leukemia using single molecule tagging and deep-sequencing
Jiangyan Yu, Željko Antić, Simon V van Reijmersdal, et al.
British Journal of Haematology
|
January 7, 2012
Amplified segment in the 'Down syndrome critical region' on HSA21 shared between Down syndrome and euploid AML-M0 excludes RUNX1, ERG and ETS2
Claudia Canzonetta, Alexander Hoischen, Emanuela Giarin, et al.
BJU International
|
August 3, 2007
Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization
Heiko Reutter, Alexander Hoischen, Michael Ludwig, et al.
Page
of 25