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Emma M M Burkitt Wright

Showing results (1-10 of 12) with videos related to

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Archives of Disease in Childhood|April 8, 2010
RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short statureEmma M M Burkitt Wright, Bronwyn Kerr
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|May 18, 2020
Clinical and neuroradiological characterisation of spinal lesions in adults with Neurofibromatosis type 1Carlos M Curtis-Lopez, Calvin Soh, John Ealing, et al.
The British Journal of Ophthalmology|March 11, 2010
VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotypeEmma M M Burkitt Wright, Rahat Perveen, Naomi Bowers, et al.
Clinical Dysmorphology|August 6, 2009
X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansionsEmma M M Burkitt Wright, Rahat Perveen, Peter E Clayton, et al.
Orphanet Journal of Rare Diseases|May 7, 2013
Brittle cornea syndrome: recognition, molecular diagnosis and managementEmma M M Burkitt Wright, Louise F Porter, Helen L Spencer, et al.
American Journal of Medical Genetics. Part A|April 13, 2012
Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12ValEmma M M Burkitt-Wright, Lisa Bradley, Jennifer Shorto, et al.
Molecular Genetics and Metabolism|May 18, 2013
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix componentsMarianne Rohrbach, Helen L Spencer, Louise F Porter, 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.
Proceedings of the National Academy of Sciences of the United States of America|November 22, 2013
Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germlineEleni Giannoulatou, Gilean McVean, Indira B Taylor, et al.
American Journal of Human Genetics|June 14, 2011
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenanceEmma M M Burkitt Wright, Helen L Spencer, Sarah B Daly, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
Archives of Disease in Childhood|April 8, 2010
RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short statureEmma M M Burkitt Wright, Bronwyn Kerr
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|May 18, 2020
Clinical and neuroradiological characterisation of spinal lesions in adults with Neurofibromatosis type 1Carlos M Curtis-Lopez, Calvin Soh, John Ealing, et al.
The British Journal of Ophthalmology|March 11, 2010
VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotypeEmma M M Burkitt Wright, Rahat Perveen, Naomi Bowers, et al.
Clinical Dysmorphology|August 6, 2009
X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansionsEmma M M Burkitt Wright, Rahat Perveen, Peter E Clayton, et al.
Orphanet Journal of Rare Diseases|May 7, 2013
Brittle cornea syndrome: recognition, molecular diagnosis and managementEmma M M Burkitt Wright, Louise F Porter, Helen L Spencer, et al.
American Journal of Medical Genetics. Part A|April 13, 2012
Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12ValEmma M M Burkitt-Wright, Lisa Bradley, Jennifer Shorto, et al.
Molecular Genetics and Metabolism|May 18, 2013
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix componentsMarianne Rohrbach, Helen L Spencer, Louise F Porter, 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.
Proceedings of the National Academy of Sciences of the United States of America|November 22, 2013
Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germlineEleni Giannoulatou, Gilean McVean, Indira B Taylor, et al.
American Journal of Human Genetics|June 14, 2011
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenanceEmma M M Burkitt Wright, Helen L Spencer, Sarah B Daly, et al.
Pageof 2