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J Groffen

Showing results (171-180 of 180) with videos related to

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European Journal of Human Genetics : EJHG|September 11, 2014
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndromeGea Beunders, Sonja A de Munnik, Nathalie Van der Aa, et al.
Experimental Nephrology|May 8, 2001
Decreased glomerular expression of agrin in diabetic nephropathy and podocytes, cultured in high glucose mediumB A Yard, S Kahlert, R Engelleiter, et al.
The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society|December 24, 1997
Agrin is a major heparan sulfate proteoglycan in the human glomerular basement membraneA J Groffen, M A Ruegg, H Dijkman, et al.
Neurology|November 12, 2017
δ-Catenin (<i>CTNND2</i>) missense mutation in familial cortical myoclonic tremor and epilepsyAnne-Fleur van Rootselaar, Alexander J Groffen, Boukje de Vries, et al.
Science (New York, N.Y.)|February 13, 2010
Doc2b is a high-affinity Ca2+ sensor for spontaneous neurotransmitter releaseAlexander J Groffen, Sascha Martens, Rocío Díez Arazola, et al.
European Journal of Human Genetics : EJHG|December 25, 2014
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequenceM Brigita Tan-Sindhunata, Inge B Mathijssen, Margriet Smit, et al.
Neuroscience|June 6, 2015
Functional characterization of the PCLO p.Ser4814Ala variant associated with major depressive disorder reveals cellular but not behavioral differencesA Giniatullina, G Maroteaux, C J Geerts, et al.
Behavior Genetics|January 20, 2019
A Potential Role for the STXBP5-AS1 Gene in Adult ADHD SymptomsA Arias-Vásquez, A J Groffen, S Spijker, et al.
American Journal of Human Genetics|January 22, 2013
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminusGea Beunders, Els Voorhoeve, Christelle Golzio, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 15, 2025
AUTS2-related syndrome: Insights from a large European cohortLorenzo Loberti, Loredaria Adamo, Enrica Antolini, et al.
Pageof 18

Showing results (171-180 of 180) with videos related to

Sort By:
Pageof 18
You have reached the last page of results.This site can display upto 180 results.
European Journal of Human Genetics : EJHG|September 11, 2014
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndromeGea Beunders, Sonja A de Munnik, Nathalie Van der Aa, et al.
Experimental Nephrology|May 8, 2001
Decreased glomerular expression of agrin in diabetic nephropathy and podocytes, cultured in high glucose mediumB A Yard, S Kahlert, R Engelleiter, et al.
The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society|December 24, 1997
Agrin is a major heparan sulfate proteoglycan in the human glomerular basement membraneA J Groffen, M A Ruegg, H Dijkman, et al.
Neurology|November 12, 2017
δ-Catenin (<i>CTNND2</i>) missense mutation in familial cortical myoclonic tremor and epilepsyAnne-Fleur van Rootselaar, Alexander J Groffen, Boukje de Vries, et al.
Science (New York, N.Y.)|February 13, 2010
Doc2b is a high-affinity Ca2+ sensor for spontaneous neurotransmitter releaseAlexander J Groffen, Sascha Martens, Rocío Díez Arazola, et al.
European Journal of Human Genetics : EJHG|December 25, 2014
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequenceM Brigita Tan-Sindhunata, Inge B Mathijssen, Margriet Smit, et al.
Neuroscience|June 6, 2015
Functional characterization of the PCLO p.Ser4814Ala variant associated with major depressive disorder reveals cellular but not behavioral differencesA Giniatullina, G Maroteaux, C J Geerts, et al.
Behavior Genetics|January 20, 2019
A Potential Role for the STXBP5-AS1 Gene in Adult ADHD SymptomsA Arias-Vásquez, A J Groffen, S Spijker, et al.
American Journal of Human Genetics|January 22, 2013
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminusGea Beunders, Els Voorhoeve, Christelle Golzio, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 15, 2025
AUTS2-related syndrome: Insights from a large European cohortLorenzo Loberti, Loredaria Adamo, Enrica Antolini, et al.
Pageof 18