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Salim Aftimos

Showing results (21-30 of 55) with videos related to

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American Journal of Medical Genetics. Part A|October 16, 2007
An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblingsPeter Kannu, Jeannette H McFarlane, Ravi Savarirayan, et al.
American Journal of Medical Genetics. Part A|February 22, 2011
Another case of multiple juxtasutural hyperostoses, cervical exostoses, and fatty infiltration of myocardiumPeter Kannu, David Perry, Martin Rees, et al.
American Journal of Medical Genetics. Part A|September 21, 2007
Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural historyPeter Kannu, Salim Aftimos, Val Mayne, et al.
American Journal of Medical Genetics. Part A|May 13, 2005
Another case of interstitial del(12) involving the proposed cardio-facio-cutaneous candidate regionPaul A James, Paul Oei, Daniel Ng, et al.
American Journal of Medical Genetics. Part A|August 15, 2006
Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndromePeter Kannu, Paul Oei, Howard R Slater, et al.
The New Zealand Medical Journal|July 24, 2010
Array comparative genomic hybridisation: a new tool in the diagnostic genetic armouryRenate Marquis-Nicholson, Salim Aftimos, Ian Hayes, et al.
Sultan Qaboos University Medical Journal|July 18, 2013
Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental DelayRoberto L Mazzaschi, Fern Ashton, Salim Aftimos, et al.
Case Reports in Genetics|October 18, 2012
Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech DelayAmel Al-Murrani, Fern Ashton, Salim Aftimos, et al.
Clinical Dysmorphology|April 5, 2008
Characterizing the oculoauriculofrontonasal syndromeMichael T Gabbett, Stephen P Robertson, Roland Broadbent, et al.
European Journal of Human Genetics : EJHG|May 15, 2008
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndromeLouise S Bicknell, James Pitt, Salim Aftimos, et al.
Pageof 6

Showing results (21-30 of 55) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|October 16, 2007
An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblingsPeter Kannu, Jeannette H McFarlane, Ravi Savarirayan, et al.
American Journal of Medical Genetics. Part A|February 22, 2011
Another case of multiple juxtasutural hyperostoses, cervical exostoses, and fatty infiltration of myocardiumPeter Kannu, David Perry, Martin Rees, et al.
American Journal of Medical Genetics. Part A|September 21, 2007
Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural historyPeter Kannu, Salim Aftimos, Val Mayne, et al.
American Journal of Medical Genetics. Part A|May 13, 2005
Another case of interstitial del(12) involving the proposed cardio-facio-cutaneous candidate regionPaul A James, Paul Oei, Daniel Ng, et al.
American Journal of Medical Genetics. Part A|August 15, 2006
Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndromePeter Kannu, Paul Oei, Howard R Slater, et al.
The New Zealand Medical Journal|July 24, 2010
Array comparative genomic hybridisation: a new tool in the diagnostic genetic armouryRenate Marquis-Nicholson, Salim Aftimos, Ian Hayes, et al.
Sultan Qaboos University Medical Journal|July 18, 2013
Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental DelayRoberto L Mazzaschi, Fern Ashton, Salim Aftimos, et al.
Case Reports in Genetics|October 18, 2012
Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech DelayAmel Al-Murrani, Fern Ashton, Salim Aftimos, et al.
Clinical Dysmorphology|April 5, 2008
Characterizing the oculoauriculofrontonasal syndromeMichael T Gabbett, Stephen P Robertson, Roland Broadbent, et al.
European Journal of Human Genetics : EJHG|May 15, 2008
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndromeLouise S Bicknell, James Pitt, Salim Aftimos, et al.
Pageof 6