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May Tassabehji

Showing results (21-30 of 31) with videos related to

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Human Genetics|June 4, 2014
Opposite effects on facial morphology due to gene dosage sensitivityPeter Hammond, Shane McKee, Michael Suttie, et al.
American Journal of Medical Genetics. Part A|November 14, 2008
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24William G Newman, Jill Clayton-Smith, Kay Metcalfe, et al.
Human Mutation|April 22, 2008
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndromeMay Tassabehji, Zhi Ming Fang, Emma N Hilton, et al.
Science (New York, N.Y.)|November 19, 2005
GTF2IRD1 in craniofacial development of humans and miceMay Tassabehji, Peter Hammond, Annette Karmiloff-Smith, et al.
Nature Communications|January 12, 2019
GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylationTomasz M Witkos, Wing Lee Chan, Merja Joensuu, et al.
American Journal of Human Genetics|December 29, 2005
Discriminating power of localized three-dimensional facial morphologyPeter Hammond, Tim J Hutton, Judith E Allanson, et al.
American Journal of Human Genetics|November 15, 2011
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndromeJill Clayton-Smith, James O'Sullivan, Sarah Daly, et al.
European Journal of Medical Genetics|July 25, 2015
Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patientsAna Beleza-Meireles, Rachel Hart, Jill Clayton-Smith, et al.
Nature Genetics|November 11, 2008
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golginHans Christian Hennies, Uwe Kornak, Haikuo Zhang, et al.
American Journal of Human Genetics|June 21, 2008
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11Christian R Marshall, Edwin J Young, Ariel M Pani, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
Human Genetics|June 4, 2014
Opposite effects on facial morphology due to gene dosage sensitivityPeter Hammond, Shane McKee, Michael Suttie, et al.
American Journal of Medical Genetics. Part A|November 14, 2008
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24William G Newman, Jill Clayton-Smith, Kay Metcalfe, et al.
Human Mutation|April 22, 2008
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndromeMay Tassabehji, Zhi Ming Fang, Emma N Hilton, et al.
Science (New York, N.Y.)|November 19, 2005
GTF2IRD1 in craniofacial development of humans and miceMay Tassabehji, Peter Hammond, Annette Karmiloff-Smith, et al.
Nature Communications|January 12, 2019
GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylationTomasz M Witkos, Wing Lee Chan, Merja Joensuu, et al.
American Journal of Human Genetics|December 29, 2005
Discriminating power of localized three-dimensional facial morphologyPeter Hammond, Tim J Hutton, Judith E Allanson, et al.
American Journal of Human Genetics|November 15, 2011
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndromeJill Clayton-Smith, James O'Sullivan, Sarah Daly, et al.
European Journal of Medical Genetics|July 25, 2015
Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patientsAna Beleza-Meireles, Rachel Hart, Jill Clayton-Smith, et al.
Nature Genetics|November 11, 2008
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golginHans Christian Hennies, Uwe Kornak, Haikuo Zhang, et al.
American Journal of Human Genetics|June 21, 2008
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11Christian R Marshall, Edwin J Young, Ariel M Pani, et al.
Pageof 4