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Acta Neuropathologica
|
March 31, 2023
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD
Pedro Ervilha Pereira, Nika Schuermans, Antoon Meylemans, et al.
Cancer Epidemiology
|
April 11, 2021
HPV DNA genotyping, HPV E6*I mRNA detection, and p16<sup>INK4a</sup>/Ki-67 staining in Belgian head and neck cancer patient specimens, collected within the HPV-AHEAD study
Cindy Simoens, Ivana Gorbaslieva, Tarik Gheit, et al.
BMC Infectious Diseases
|
August 6, 2022
Accuracy of high-risk HPV DNA PCR, p16<sup>(INK4a)</sup> immunohistochemistry or the combination of both to diagnose HPV-driven oropharyngeal cancer
Cindy Simoens, Tarik Gheit, Ruediger Ridder, et al.
JCI Insight
|
August 27, 2021
A dynamic mucin mRNA signature associates with COVID-19 disease presentation and severity
Annemieke Smet, Tom Breugelmans, Johan Michiels, et al.
American Journal of Human Genetics
|
November 27, 2010
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores
Nyamkhishig Sambuughin, Kyle S Yau, Montse Olivé, et al.
Plos Genetics
|
December 14, 2018
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence
Edith Bonnin, Pauline Cabochette, Alessandro Filosa, et al.
American Journal of Human Genetics
|
July 7, 2009
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies
Dirk J Lefeber, Johannes Schönberger, Eva Morava, et al.
Plos Genetics
|
April 6, 2018
Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis
Gretl Hendrickx, Vere M Borra, Ellen Steenackers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 16, 2016
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections
Josephina A N Meester, Geert Vandeweyer, Isabel Pintelon, et al.
Plos Genetics
|
January 14, 2012
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation
Dirk J Lefeber, Arjan P M de Brouwer, Eva Morava, et al.
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of 10
Search research articles
Search
Showing results (71-80 of 91) with videos related to
Sort By:
Page
of 10
Acta Neuropathologica
|
March 31, 2023
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD
Pedro Ervilha Pereira, Nika Schuermans, Antoon Meylemans, et al.
Cancer Epidemiology
|
April 11, 2021
HPV DNA genotyping, HPV E6*I mRNA detection, and p16<sup>INK4a</sup>/Ki-67 staining in Belgian head and neck cancer patient specimens, collected within the HPV-AHEAD study
Cindy Simoens, Ivana Gorbaslieva, Tarik Gheit, et al.
BMC Infectious Diseases
|
August 6, 2022
Accuracy of high-risk HPV DNA PCR, p16<sup>(INK4a)</sup> immunohistochemistry or the combination of both to diagnose HPV-driven oropharyngeal cancer
Cindy Simoens, Tarik Gheit, Ruediger Ridder, et al.
JCI Insight
|
August 27, 2021
A dynamic mucin mRNA signature associates with COVID-19 disease presentation and severity
Annemieke Smet, Tom Breugelmans, Johan Michiels, et al.
American Journal of Human Genetics
|
November 27, 2010
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores
Nyamkhishig Sambuughin, Kyle S Yau, Montse Olivé, et al.
Plos Genetics
|
December 14, 2018
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence
Edith Bonnin, Pauline Cabochette, Alessandro Filosa, et al.
American Journal of Human Genetics
|
July 7, 2009
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies
Dirk J Lefeber, Johannes Schönberger, Eva Morava, et al.
Plos Genetics
|
April 6, 2018
Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis
Gretl Hendrickx, Vere M Borra, Ellen Steenackers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 16, 2016
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections
Josephina A N Meester, Geert Vandeweyer, Isabel Pintelon, et al.
Plos Genetics
|
January 14, 2012
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation
Dirk J Lefeber, Arjan P M de Brouwer, Eva Morava, et al.
Page
of 10