Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Alexander M Zink

Showing results (11-20 of 20) with videos related to

Pageof 2
Sort By:
You have reached the last page of results.This site can display upto 20 results.
American Journal of Medical Genetics. Part A|February 18, 2020
Nine newly identified individuals refine the phenotype associated with MYT1L mutationsIsabelle C Windheuser, Jessica Becker, Kirsten Cremer, et al.
American Journal of Human Genetics|September 5, 2015
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech ImpairmentMaja Hempel, Kirsten Cremer, Charlotte W Ockeloen, et al.
Molecular Cytogenetics|October 1, 2015
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?Julia K Ehret, Hartmut Engels, Kirsten Cremer, et al.
European Journal of Human Genetics : EJHG|August 21, 2014
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndromeAlma Kuechler, Alexander M Zink, Thomas Wieland, et al.
International Journal of Cancer|September 16, 2014
Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposisSukanya Horpaopan, Isabel Spier, Alexander M Zink, et al.
European Journal of Human Genetics : EJHG|April 4, 2013
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL associationAlina Hilger, Charlotte Schramm, Tracie Pennimpede, et al.
Blood|February 2, 2021
Protein expression profiling suggests relevance of noncanonical pathways in isolated pulmonary embolismVincent Ten Cate, Jürgen H Prochaska, Andreas Schulz, et al.
Lancet (London, England)|October 2, 2012
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing studyAnita Rauch, Dagmar Wieczorek, Elisabeth Graf, et al.
Nature Genetics|July 12, 2016
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrityJosefine S Witteveen, Marjolein H Willemsen, Thaís C D Dombroski, et al.
Annals of Clinical and Translational Neurology|May 23, 2015
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvementTobias B Haack, Christopher B Jackson, Kei Murayama, et al.
Pageof 2

Showing results (11-20 of 20) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
American Journal of Medical Genetics. Part A|February 18, 2020
Nine newly identified individuals refine the phenotype associated with MYT1L mutationsIsabelle C Windheuser, Jessica Becker, Kirsten Cremer, et al.
American Journal of Human Genetics|September 5, 2015
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech ImpairmentMaja Hempel, Kirsten Cremer, Charlotte W Ockeloen, et al.
Molecular Cytogenetics|October 1, 2015
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?Julia K Ehret, Hartmut Engels, Kirsten Cremer, et al.
European Journal of Human Genetics : EJHG|August 21, 2014
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndromeAlma Kuechler, Alexander M Zink, Thomas Wieland, et al.
International Journal of Cancer|September 16, 2014
Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposisSukanya Horpaopan, Isabel Spier, Alexander M Zink, et al.
European Journal of Human Genetics : EJHG|April 4, 2013
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL associationAlina Hilger, Charlotte Schramm, Tracie Pennimpede, et al.
Blood|February 2, 2021
Protein expression profiling suggests relevance of noncanonical pathways in isolated pulmonary embolismVincent Ten Cate, Jürgen H Prochaska, Andreas Schulz, et al.
Lancet (London, England)|October 2, 2012
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing studyAnita Rauch, Dagmar Wieczorek, Elisabeth Graf, et al.
Nature Genetics|July 12, 2016
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrityJosefine S Witteveen, Marjolein H Willemsen, Thaís C D Dombroski, et al.
Annals of Clinical and Translational Neurology|May 23, 2015
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvementTobias B Haack, Christopher B Jackson, Kei Murayama, et al.
Pageof 2