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Edwin P Kirk

Showing results (81-90 of 117) with videos related to

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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.
Molecular Genetics and Metabolism|August 31, 2015
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagineElizabeth Emma Palmer, Jaclyn Hayner, Rani Sachdev, et al.
Journal of Medical Genetics|December 5, 2023
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridiaHildegard Nikki Hall, David Parry, Mihail Halachev, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 13, 2019
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome RegistryDorothy K Grange, Helen I Roessler, Conor McClenaghan, et al.
Journal of Medical Genetics|May 27, 2019
Pathogenic variants in <i>PLOD3</i> result in a Stickler syndrome-like connective tissue disorder with vascular complicationsLisa Jean Ewans, Alison Colley, Carles Gaston-Massuet, et al.
Human Mutation|May 23, 2020
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathyLisa G Riley, Joëlle Rudinger-Thirion, Magali Frugier, et al.
The Journal of Experimental Medicine|April 17, 2024
Dominant negative OTULIN-related autoinflammatory syndromeSophia Davidson, Yuri Shibata, Sophie Collard, et al.
Nature Communications|July 23, 2014
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndromeDanielle C Lynch, Timothée Revil, Jeremy Schwartzentruber, et al.
Pageof 12

Showing results (81-90 of 117) with videos related to

Sort By:
Pageof 12
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.
Molecular Genetics and Metabolism|August 31, 2015
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagineElizabeth Emma Palmer, Jaclyn Hayner, Rani Sachdev, et al.
Journal of Medical Genetics|December 5, 2023
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridiaHildegard Nikki Hall, David Parry, Mihail Halachev, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 13, 2019
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome RegistryDorothy K Grange, Helen I Roessler, Conor McClenaghan, et al.
Journal of Medical Genetics|May 27, 2019
Pathogenic variants in <i>PLOD3</i> result in a Stickler syndrome-like connective tissue disorder with vascular complicationsLisa Jean Ewans, Alison Colley, Carles Gaston-Massuet, et al.
Human Mutation|May 23, 2020
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathyLisa G Riley, Joëlle Rudinger-Thirion, Magali Frugier, et al.
The Journal of Experimental Medicine|April 17, 2024
Dominant negative OTULIN-related autoinflammatory syndromeSophia Davidson, Yuri Shibata, Sophie Collard, et al.
Nature Communications|July 23, 2014
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndromeDanielle C Lynch, Timothée Revil, Jeremy Schwartzentruber, et al.
Pageof 12