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T Roscioli

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

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Clinical Genetics|October 7, 2005
Discrepancies in upper and lower limb patterning in split hand foot malformationA M Elliott, M H Reed, T Roscioli, et al.
The Journal of Craniofacial Surgery|January 25, 2006
Do Craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome?P J Anderson, D J Netherway, T C Cox, et al.
International Journal of Immunogenetics|December 3, 2014
A novel intronic splice site deletion of the IL-2 receptor common gamma chain results in expression of a dysfunctional protein and T-cell-positive X-linked Severe combined immunodeficiencyP E A Gray, G J Logan, I E Alexander, et al.
American Journal of Medical Genetics|June 22, 2000
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literatureT Roscioli, S Flanagan, P Kumar, et al.
American Journal of Medical Genetics. Part A|July 12, 2005
Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutationT Roscioli, D Kennedy, J Cui, et al.
American Journal of Medical Genetics|June 26, 2001
Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3T Roscioli, S Flanagan, R J Mortimore, et al.
Journal of Medical Genetics|August 3, 2005
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domainG McGillivray, R Savarirayan, T C Cox, et al.
Journal of Inherited Metabolic Disease|April 15, 2017
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiencyS Balasubramaniam, L G Riley, D Bratkovic, et al.
Clinical Genetics|March 19, 2010
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrumJ Van Reeuwijk, M J W Olderode-Berends, C Van den Elzen, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 16, 2013
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patientsT Roscioli, G Elakis, T C Cox, et al.
Pageof 2

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

Sort By:
Pageof 2
Clinical Genetics|October 7, 2005
Discrepancies in upper and lower limb patterning in split hand foot malformationA M Elliott, M H Reed, T Roscioli, et al.
The Journal of Craniofacial Surgery|January 25, 2006
Do Craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome?P J Anderson, D J Netherway, T C Cox, et al.
International Journal of Immunogenetics|December 3, 2014
A novel intronic splice site deletion of the IL-2 receptor common gamma chain results in expression of a dysfunctional protein and T-cell-positive X-linked Severe combined immunodeficiencyP E A Gray, G J Logan, I E Alexander, et al.
American Journal of Medical Genetics|June 22, 2000
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literatureT Roscioli, S Flanagan, P Kumar, et al.
American Journal of Medical Genetics. Part A|July 12, 2005
Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutationT Roscioli, D Kennedy, J Cui, et al.
American Journal of Medical Genetics|June 26, 2001
Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3T Roscioli, S Flanagan, R J Mortimore, et al.
Journal of Medical Genetics|August 3, 2005
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domainG McGillivray, R Savarirayan, T C Cox, et al.
Journal of Inherited Metabolic Disease|April 15, 2017
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiencyS Balasubramaniam, L G Riley, D Bratkovic, et al.
Clinical Genetics|March 19, 2010
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrumJ Van Reeuwijk, M J W Olderode-Berends, C Van den Elzen, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 16, 2013
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patientsT Roscioli, G Elakis, T C Cox, et al.
Pageof 2