O Uyguner

Author PubWeight™ 7.62^‹?›

Rank	Title	Journal	Year	PubWeight™‹?›
1	Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome.	J Med Genet	2006	1.64
2	Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.	Clin Genet	2008	1.21
3	hKChIP2 is a functional modifier of hKv4.3 potassium channels: cloning and expression of a short hKChIP2 splice variant.	Cardiovasc Res	2001	1.20
4	A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency.	J Clin Endocrinol Metab	2003	0.94
5	CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor.	Eur J Neurol	2002	0.93
6	A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter.	J Med Genet	2005	0.93
7	Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.	Genet Couns	2009	0.87