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Edwin Reyniers

Showing results (31-40 of 39) with videos related to

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European Journal of Medical Genetics|September 2, 2015
Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similaritiesAnke Van Dijck, Ilse M van der Werf, Edwin Reyniers, et al.
European Journal of Human Genetics : EJHG|March 2, 2019
Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing geneIlse Luyckx, Ajay A Kumar, Edwin Reyniers, et al.
Nature Genetics|August 15, 2006
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphismDavid A Koolen, Lisenka E L M Vissers, Rolph Pfundt, 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 dissectionsJosephina A N Meester, Geert Vandeweyer, Isabel Pintelon, et al.
European Journal of Human Genetics : EJHG|July 4, 2024
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genesNoor Smal, Fatma Majdoub, Katrien Janssens, et al.
European Journal of Human Genetics : EJHG|November 3, 2016
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short statureSalima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, et al.
Journal of Medical Genetics|May 11, 2010
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypesDamien L Bruno, Britt-Marie Anderlid, Anna Lindstrand, et al.
American Journal of Medical Genetics. Part A|May 25, 2019
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic featuresElliot S Stolerman, Elizabeth Francisco, Jennifer L Stallworth, et al.
European Journal of Medical Genetics|March 3, 2009
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndromeNathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer, et al.
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Showing results (31-40 of 39) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 39 results.
European Journal of Medical Genetics|September 2, 2015
Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similaritiesAnke Van Dijck, Ilse M van der Werf, Edwin Reyniers, et al.
European Journal of Human Genetics : EJHG|March 2, 2019
Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing geneIlse Luyckx, Ajay A Kumar, Edwin Reyniers, et al.
Nature Genetics|August 15, 2006
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphismDavid A Koolen, Lisenka E L M Vissers, Rolph Pfundt, 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 dissectionsJosephina A N Meester, Geert Vandeweyer, Isabel Pintelon, et al.
European Journal of Human Genetics : EJHG|July 4, 2024
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genesNoor Smal, Fatma Majdoub, Katrien Janssens, et al.
European Journal of Human Genetics : EJHG|November 3, 2016
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short statureSalima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, et al.
Journal of Medical Genetics|May 11, 2010
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypesDamien L Bruno, Britt-Marie Anderlid, Anna Lindstrand, et al.
American Journal of Medical Genetics. Part A|May 25, 2019
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic featuresElliot S Stolerman, Elizabeth Francisco, Jennifer L Stallworth, et al.
European Journal of Medical Genetics|March 3, 2009
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndromeNathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer, et al.
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