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Han G Brunner

Showing results (141-150 of 318) with videos related to

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Ebiomedicine|May 20, 2023
Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesityJohanna C Andersson-Assarsson, Rosanne C van Deuren, Felipe M Kristensson, et al.
American Journal of Human Genetics|October 9, 2002
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromeDaniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, et al.
American Journal of Human Genetics|March 1, 2016
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow SyndromeJanson J White, Juliana F Mazzeu, Alexander Hoischen, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
Homozygosity mapping in outbred families with mental retardationJanneke H M Schuurs-Hoeijmakers, Jayne Y Hehir-Kwa, Rolph Pfundt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2017
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurologyLisenka E L M Vissers, Kirsten J M van Nimwegen, Jolanda H Schieving, et al.
American Journal of Medical Genetics. Part A|September 14, 2007
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutationErsan Kalay, Abdullah Uzumcu, Elmar Krieger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2021
Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathySophie L V M Stroeks, Debby M E I Hellebrekers, Godelieve R F Claes, et al.
Human Genetics|June 27, 2003
Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exonJosé A J M van den Hurk, Dorien J R van de Pol, Bernd Wissinger, et al.
Human Mutation|July 22, 2010
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasiaClaus E Ott, Gundula Leschik, Fabienne Trotier, et al.
European Journal of Human Genetics : EJHG|August 31, 2017
Propionic acidemia as a cause of adult-onset dilated cardiomyopathyMoniek Riemersma, Mark R Hazebroek, Appolonia T J M Helderman-van den Enden, et al.
Pageof 32

Showing results (141-150 of 318) with videos related to

Sort By:
Pageof 32
Ebiomedicine|May 20, 2023
Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesityJohanna C Andersson-Assarsson, Rosanne C van Deuren, Felipe M Kristensson, et al.
American Journal of Human Genetics|October 9, 2002
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromeDaniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, et al.
American Journal of Human Genetics|March 1, 2016
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow SyndromeJanson J White, Juliana F Mazzeu, Alexander Hoischen, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
Homozygosity mapping in outbred families with mental retardationJanneke H M Schuurs-Hoeijmakers, Jayne Y Hehir-Kwa, Rolph Pfundt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2017
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurologyLisenka E L M Vissers, Kirsten J M van Nimwegen, Jolanda H Schieving, et al.
American Journal of Medical Genetics. Part A|September 14, 2007
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutationErsan Kalay, Abdullah Uzumcu, Elmar Krieger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2021
Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathySophie L V M Stroeks, Debby M E I Hellebrekers, Godelieve R F Claes, et al.
Human Genetics|June 27, 2003
Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exonJosé A J M van den Hurk, Dorien J R van de Pol, Bernd Wissinger, et al.
Human Mutation|July 22, 2010
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasiaClaus E Ott, Gundula Leschik, Fabienne Trotier, et al.
European Journal of Human Genetics : EJHG|August 31, 2017
Propionic acidemia as a cause of adult-onset dilated cardiomyopathyMoniek Riemersma, Mark R Hazebroek, Appolonia T J M Helderman-van den Enden, et al.
Pageof 32