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Edwin P Kirk

Showing results (71-80 of 117) with videos related to

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Journal of Human Genetics|November 7, 2009
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populationsSanae Numata, Yoshiro Koda, Kenji Ihara, et al.
Pediatrics|July 22, 2009
Expanded newborn screening: outcome in screened and unscreened patients at age 6 yearsBridget Wilcken, Marion Haas, Pamela Joy, et al.
Journal of Medical Genetics|September 20, 2013
Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencingBenjamin Nota, Eline M Hamilton, Daoud Sie, et al.
American Heart Journal|October 20, 2021
Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genesGillian M Blue, Mauk Mekel, Debjani Das, et al.
Nature Genetics|May 2, 2006
Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive diseaseTony Roscioli, Simon T Cliffe, Donald B Bloch, et al.
Plos One|June 16, 2011
Investigation of association between PFO complicated by cryptogenic stroke and a common variant of the cardiac transcription factor GATA4Mahdi Moradi Marjaneh, Edwin P Kirk, Maximilian G Posch, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Pierpont syndrome: a collaborative studyEmma M M Burkitt Wright, Mohnish Suri, Susan M White, et al.
Cell Reports|October 26, 2017
A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic EncephalopathySushmitha Gururaj, Elizabeth Emma Palmer, Garrett D Sheehan, et al.
Human Mutation|December 26, 2003
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type IIMonique M P Hermans, Dik van Leenen, Marian A Kroos, et al.
Cell Reports|December 6, 2018
A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal MigrationAdam C O'Neill, Christina Kyrousi, Johannes Klaus, et al.
Pageof 12

Showing results (71-80 of 117) with videos related to

Sort By:
Pageof 12
Journal of Human Genetics|November 7, 2009
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populationsSanae Numata, Yoshiro Koda, Kenji Ihara, et al.
Pediatrics|July 22, 2009
Expanded newborn screening: outcome in screened and unscreened patients at age 6 yearsBridget Wilcken, Marion Haas, Pamela Joy, et al.
Journal of Medical Genetics|September 20, 2013
Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencingBenjamin Nota, Eline M Hamilton, Daoud Sie, et al.
American Heart Journal|October 20, 2021
Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genesGillian M Blue, Mauk Mekel, Debjani Das, et al.
Nature Genetics|May 2, 2006
Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive diseaseTony Roscioli, Simon T Cliffe, Donald B Bloch, et al.
Plos One|June 16, 2011
Investigation of association between PFO complicated by cryptogenic stroke and a common variant of the cardiac transcription factor GATA4Mahdi Moradi Marjaneh, Edwin P Kirk, Maximilian G Posch, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Pierpont syndrome: a collaborative studyEmma M M Burkitt Wright, Mohnish Suri, Susan M White, et al.
Cell Reports|October 26, 2017
A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic EncephalopathySushmitha Gururaj, Elizabeth Emma Palmer, Garrett D Sheehan, et al.
Human Mutation|December 26, 2003
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type IIMonique M P Hermans, Dik van Leenen, Marian A Kroos, et al.
Cell Reports|December 6, 2018
A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal MigrationAdam C O'Neill, Christina Kyrousi, Johannes Klaus, et al.
Pageof 12