Publikationen von Masoud Garshasbi
Alle Typen
Zeitschriftenartikel (29)
21.
Zeitschriftenartikel
5, S. e1000487 - e1000487 (2009)
CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait. PLoS Genetics 22.
Zeitschriftenartikel
17 (1), S. 125 - 128 (2009)
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4. European Journal of Human Genetics 23.
Zeitschriftenartikel
30 (2), S. E404 - E420 (2008)
Expanded mutational spectrum in Cohen Syndrome, tissue expression, and transcript variants of COH1. Human Mutation 24.
Zeitschriftenartikel
159 (3), S. 748 - 751 (2008)
Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients. British Journal of Dermatology 25.
Zeitschriftenartikel
82 (5), S. 1158 - 1164 (2008)
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. The American Journal of Human Genetics 26.
Zeitschriftenartikel
16, S. 270 - 273 (2008)
Identification of nonsense mutation in the very low density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. European Journal of Human Genetics 27.
Zeitschriftenartikel
121 (1), S. 43 - 48 (2007)
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Human Genetics 28.
Zeitschriftenartikel
83 (3), S. 702 - 706 (2006)
Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy. Experimental Eye Research 29.
Zeitschriftenartikel
118 (6), S. 708 - 715 (2006)
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Human Genetics Hochschulschrift - Doktorarbeit (1)
30.
Hochschulschrift - Doktorarbeit
Identification of 31 genomic loci for autosomal recessive mental retardation and molecular genetic characterization of novel causative mutations in four genes. Dissertation, Freie Universität Berlin, Berlin (2009)