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Lista de obras de Reha M. Toydemir

A deletion 13q34/duplication 14q32.2-14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia

scientific article published on 15 March 2011

A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7.

artículo científico publicado en 2006

A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome

artículo científico publicado en 2006

Clinical features of trisomy 12 mosaicism-Report and review

artículo científico publicado en 2017

Cytogenetic and molecular characterization of double inversion 3 associated with a cryptic BCR-ABL1 rearrangement and additional genetic changes ⬇️

artículo científico publicado el 1 de septiembre de 2010

Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature

artículo científico publicado en 2018

Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions

artículo científico publicado en 2018

Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype

artículo científico publicado en 2003

L1CAMwhole gene deletion in a child with L1 syndrome

article

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

artículo científico publicado en 2006

Neoplastic plasma cell aberrant antigen expression patterns and their association with genetic abnormalities

artículo científico publicado en 2014

Pediatric acute myeloid leukemia with t(7;21)(p22;q22)

scientific article published on 14 February 2019

Sheldon-Hall syndrome

artículo científico publicado en 2009

The Occurrence of Occult Acetabular Dysplasia in Relatives of Individuals With Developmental Dysplasia of the Hip.

artículo científico publicado en 2015

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8

artículo científico publicado en 2006

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