Associated Papers
Distribution and classifications of PKHD1 gene variants in a Turkish population using the next generation sequencing method.
Gezgin Y et al.
Turkish Journal of Medical Sciences, 2024
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.
Melchionda S et al.
Journal of Human Genetics, 2016
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 266.133
Frequent mutations in TP53 and CDKN2A found by next-generation sequencing of head and neck cancer cell lines.
Nichols AC et al.
Archives of Otolaryngology--head & Neck Surgery, 2012
Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.
Chang H et al.
Plos One, 2011
21701589 (PubMed )
Supplement: pone.0021097.s002.xls › nci-h661_f40r3
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Gunay-Aygun M et al.
Molecular Genetics and Metabolism, 2010
Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy.
Suzuki T et al.
Neuroscience Letters, 2006
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
Sharp AM et al.
Journal of Medical Genetics, 2005
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