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Salim Aftimos

Showing results (51-60 of 55) with videos related to

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Human Molecular Genetics|September 6, 2012
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagenUlrike Schwarze, Tim Cundy, Shawna M Pyott, et al.
European Journal of Human Genetics : EJHG|February 16, 2012
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosisSonja A de Munnik, Louise S Bicknell, Salim Aftimos, et al.
The Lancet. Neurology|December 3, 2013
The genetic basis of DOORS syndrome: an exome-sequencing studyPhilippe M Campeau, Dalia Kasperaviciute, James T Lu, et al.
American Journal of Medical Genetics. Part A|October 2, 2012
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorderSonja A de Munnik, Barto J Otten, Jeroen Schoots, et al.
Human Mutation|July 31, 2010
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutationsJennifer J Johnston, Julie C Sapp, Joyce T Turner, et al.
Pageof 6

Showing results (51-60 of 55) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 55 results.
Human Molecular Genetics|September 6, 2012
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagenUlrike Schwarze, Tim Cundy, Shawna M Pyott, et al.
European Journal of Human Genetics : EJHG|February 16, 2012
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosisSonja A de Munnik, Louise S Bicknell, Salim Aftimos, et al.
The Lancet. Neurology|December 3, 2013
The genetic basis of DOORS syndrome: an exome-sequencing studyPhilippe M Campeau, Dalia Kasperaviciute, James T Lu, et al.
American Journal of Medical Genetics. Part A|October 2, 2012
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorderSonja A de Munnik, Barto J Otten, Jeroen Schoots, et al.
Human Mutation|July 31, 2010
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutationsJennifer J Johnston, Julie C Sapp, Joyce T Turner, et al.
Pageof 6