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P Kirk

Showing results (221-230 of 269) with videos related to

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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.
Elife|June 5, 2023
Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross lineMahdi Moradi Marjaneh, Edwin P Kirk, Ralph Patrick, et al.
European Journal of Human Genetics : EJHG|August 22, 2025
Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementationMichael P Mackley, Pankaj B Agrawal, Sara S Ali, et al.
Human Molecular Genetics|July 2, 2013
Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexesSze Chern Lim, Martin Friemel, Justine E Marum, et al.
Pageof 27

Showing results (221-230 of 269) with videos related to

Sort By:
Pageof 27
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.
Elife|June 5, 2023
Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross lineMahdi Moradi Marjaneh, Edwin P Kirk, Ralph Patrick, et al.
European Journal of Human Genetics : EJHG|August 22, 2025
Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementationMichael P Mackley, Pankaj B Agrawal, Sara S Ali, et al.
Human Molecular Genetics|July 2, 2013
Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexesSze Chern Lim, Martin Friemel, Justine E Marum, et al.
Pageof 27