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Salim Aftimos

Showing results (31-40 of 55) with videos related to

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Sultan Qaboos University Medical Journal|July 18, 2013
Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental DelayKaren L Sheath, Roberto L Mazzaschi, Salim Aftimos, et al.
American Journal of Medical Genetics|October 31, 2002
Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophyMicheala A Aldred, Salim Aftimos, Christine Hall, et al.
Case Reports in Genetics|October 18, 2012
Pure duplication of the distal long arm of chromosome 15 with ebstein anomaly and clavicular anomalyRachel O'Connor, Amel Al-Murrani, Salim Aftimos, et al.
Gene|July 16, 2011
Pseudotrisomy 13 syndrome: use of homozygosity mapping to target candidate genesRenate Marquis-Nicholson, Salim Aftimos, Fern Ashton, et al.
Case Reports in Pediatrics|December 1, 2012
A novel 2.3 mb microduplication of 9q34.3 inserted into 19q13.4 in a patient with learning disabilitiesShalinder Singh, Fern Ashton, Renate Marquis-Nicholson, et al.
Neurogenetics|March 5, 2013
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotypeHeather R Tiffin, Zandra A Jenkins, Mary J Gray, et al.
Clinical Endocrinology|August 23, 2012
A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex developmentJoyce Y Wu, Ivan N McGown, Lin Lin, et al.
Human Mutation|December 26, 2003
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatinOlivier Menzel, Reidunn C J Bekkeheien, Alexandre Reymond, et al.
The Journal of Biological Chemistry|May 18, 2018
<i>O</i>-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signalingNithya Selvan, Stephan George, Fatema J Serajee, et al.
Orphanet Journal of Rare Diseases|June 11, 2011
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new familiesElena Andreucci, Salim Aftimos, Melanie Alcausin, et al.
Pageof 6

Showing results (31-40 of 55) with videos related to

Sort By:
Pageof 6
Sultan Qaboos University Medical Journal|July 18, 2013
Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental DelayKaren L Sheath, Roberto L Mazzaschi, Salim Aftimos, et al.
American Journal of Medical Genetics|October 31, 2002
Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophyMicheala A Aldred, Salim Aftimos, Christine Hall, et al.
Case Reports in Genetics|October 18, 2012
Pure duplication of the distal long arm of chromosome 15 with ebstein anomaly and clavicular anomalyRachel O'Connor, Amel Al-Murrani, Salim Aftimos, et al.
Gene|July 16, 2011
Pseudotrisomy 13 syndrome: use of homozygosity mapping to target candidate genesRenate Marquis-Nicholson, Salim Aftimos, Fern Ashton, et al.
Case Reports in Pediatrics|December 1, 2012
A novel 2.3 mb microduplication of 9q34.3 inserted into 19q13.4 in a patient with learning disabilitiesShalinder Singh, Fern Ashton, Renate Marquis-Nicholson, et al.
Neurogenetics|March 5, 2013
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotypeHeather R Tiffin, Zandra A Jenkins, Mary J Gray, et al.
Clinical Endocrinology|August 23, 2012
A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex developmentJoyce Y Wu, Ivan N McGown, Lin Lin, et al.
Human Mutation|December 26, 2003
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatinOlivier Menzel, Reidunn C J Bekkeheien, Alexandre Reymond, et al.
The Journal of Biological Chemistry|May 18, 2018
<i>O</i>-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signalingNithya Selvan, Stephan George, Fatema J Serajee, et al.
Orphanet Journal of Rare Diseases|June 11, 2011
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new familiesElena Andreucci, Salim Aftimos, Melanie Alcausin, et al.
Pageof 6