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Elham Sadighi Akha

Showing results (1-10 of 8) with videos related to

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The Journal of Experimental Medicine|February 23, 2011
The autophagy protein Atg7 is essential for hematopoietic stem cell maintenanceMonika Mortensen, Elizabeth J Soilleux, Gordana Djordjevic, et al.
European Journal of Human Genetics : EJHG|December 4, 2008
A 15q13.3 microdeletion segregating with autismAlistair T Pagnamenta, Kirsty Wing, Elham Sadighi Akha, et al.
American Journal of Medical Genetics. Part A|August 14, 2012
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing lossAlistair T Pagnamenta, Jennie E Murray, Grace Yoon, et al.
Journal of Human Genetics|December 2, 2011
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequenciesAlistair T Pagnamenta, Stefano Lise, Victoria Harrison, et al.
Human Molecular Genetics|January 22, 2013
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotesStephen R F Twigg, Christian Babbs, Marijke E P van den Elzen, et al.
The Journal of Allergy and Clinical Immunology|March 12, 2025
A novel dominant-negative variant of IRF8 in a mother and son: Clinical, phenotypic and biological characteristicsHyoungjun Ham, Crescent R Isham, Elizabeth H Ristagno, et al.
Nature Genetics|January 29, 2013
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesisStephen R F Twigg, Elena Vorgia, Simon J McGowan, et al.
Plos Genetics|December 14, 2012
Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor developmentStefano Lise, Yvonne Clarkson, Emma Perkins, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
The Journal of Experimental Medicine|February 23, 2011
The autophagy protein Atg7 is essential for hematopoietic stem cell maintenanceMonika Mortensen, Elizabeth J Soilleux, Gordana Djordjevic, et al.
European Journal of Human Genetics : EJHG|December 4, 2008
A 15q13.3 microdeletion segregating with autismAlistair T Pagnamenta, Kirsty Wing, Elham Sadighi Akha, et al.
American Journal of Medical Genetics. Part A|August 14, 2012
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing lossAlistair T Pagnamenta, Jennie E Murray, Grace Yoon, et al.
Journal of Human Genetics|December 2, 2011
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequenciesAlistair T Pagnamenta, Stefano Lise, Victoria Harrison, et al.
Human Molecular Genetics|January 22, 2013
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotesStephen R F Twigg, Christian Babbs, Marijke E P van den Elzen, et al.
The Journal of Allergy and Clinical Immunology|March 12, 2025
A novel dominant-negative variant of IRF8 in a mother and son: Clinical, phenotypic and biological characteristicsHyoungjun Ham, Crescent R Isham, Elizabeth H Ristagno, et al.
Nature Genetics|January 29, 2013
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesisStephen R F Twigg, Elena Vorgia, Simon J McGowan, et al.
Plos Genetics|December 14, 2012
Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor developmentStefano Lise, Yvonne Clarkson, Emma Perkins, et al.
Pageof 1