about
Sheldon-Hall syndromeTrismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndromeA novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndromeExpressivity of Holt-Oram syndrome is not predicted by TBX5 genotypeNeoplastic plasma cell aberrant antigen expression patterns and their association with genetic abnormalitiesThe Occurrence of Occult Acetabular Dysplasia in Relatives of Individuals With Developmental Dysplasia of the Hip.A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7.Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletionsL1CAMwhole gene deletion in a child with L1 syndromeA deletion 13q34/duplication 14q32.2-14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemiaClinical features of trisomy 12 mosaicism-Report and reviewPediatric acute myeloid leukemia with t(7;21)(p22;q22)Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature
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Q21202894-D4D130BB-9346-404E-B29F-C51492A1C88EQ24306829-2B63D6C5-1C08-460A-8AD9-6C4F33150390Q24321590-9BCC5A28-9B26-42CF-864E-0BFF7A19261AQ24672101-FD046787-C1EC-4E75-8D16-565534B039FFQ33905971-5F5EAF44-8702-4FE3-9537-6DC789915B9AQ35534247-2B5290BA-620C-4FC0-9918-7A5102F943ECQ50599629-26876CF4-F0E1-4F0E-BD5C-9844DCB8F880Q55042441-CB74ACAF-69BA-478F-8814-5B97522CC145Q57800583-BF86027D-077F-4109-86C4-2006BD3FE230Q64356560-A6C49EE9-F265-4389-9D66-7C3654ECD228Q84146496-C219C750-2E8D-4332-AD97-7894DD8218DDQ87677471-C66A2BF7-08B1-43DB-8E7F-142D09374639Q91301396-127FE52D-C67F-48F2-9AF6-D14792804A3AQ93243915-7DAC7E3B-EFBD-4F28-801E-CB09B2390378
P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Reha M Toydemir
@nl
Reha M Toydemir
@sl
Reha M. Toydemir
@en
Reha M. Toydemir
@es
type
label
Reha M Toydemir
@nl
Reha M Toydemir
@sl
Reha M. Toydemir
@en
Reha M. Toydemir
@es
prefLabel
Reha M Toydemir
@nl
Reha M Toydemir
@sl
Reha M. Toydemir
@en
Reha M. Toydemir
@es
P106
P1153
6508319025
P21
P31
P496
0000-0002-0797-1999