Publications by authors named "Hanoch Slor"

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Clinical utility gene card for: Xeroderma pigmentosum.
Steffen Schubert, Janin Lehmann, Limor Kalfon, Hanoch Slor, Tzipora C Falik-Zaccai

Eur J Hum Genet· July 2014

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A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity.
Tzipora C Falik-Zaccai, Reut Erel-Segal, Liran Horev, Ora Bitterman-Deutsch, Sivan Koka, Hanoch Slor

Environ Mol Mutagen· August 2012

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Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
Yuka Nakazawa, Kensaku Sasaki, Norisato Mitsutake, Michiko Matsuse, Mayuko Shimada, Hanoch Slor

Nat Genet· May 2012

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The versatile DNA nucleotide excision repair (NER) and its medical significance.
Tzipora C Falik-Zaccai, Zohar Keren, Hanoch Slor

Pediatr Endocrinol Rev· December 2009

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Xeroderma pigmentosum-variant patients from America, Europe, and Asia.
Hiroki Inui, Kyu-Seon Oh, Carine Nadem, Takahiro Ueda, Sikandar G Khan, Hanoch Slor

J Invest Dermatol· August 2008

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Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6.
Tzipora C Falik-Zaccai, Meital Laskar, Nechama Kfir, Wael Nasser, Hanoch Slor

Am J Med Genet A· June 2008

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[Clinical, biochemical and molecular characterization of rare genetic disorders, related to nucleotide excision repair (NER) system].
Tzipora Falik-Zaccai, Nechama Kfir, Meital Laskar, Reeval Segel, Morad Khyat, Hanoch Slor

Harefuah· December 2006

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Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
Sikandar G Khan, Kyu-Seon Oh, Tala Shahlavi, Takahiro Ueda, David B Busch, Hanoch Slor

Carcinogenesis· January 2006

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A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32.
Sergiu C Blumen, Simon Bevan, Saif Abu-Mouch, David Negus, Michael Kahana, Hanoch Slor

Ann Neurol· December 2003

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Quantitative evaluation of hepatic cytochrome P4501A transcript, protein, and catalytic activity in the striped sea bream (Lithognathus mormyrus).
Moshe Tom, Merav Shmul, Edna Shefer, Nir Chen, Hanoch Slor

Environ Toxicol Chem· September 2003

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Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.
Steffen Emmert, Hanoch Slor, David B Busch, Sima Batko, Roberta B Albert

J Invest Dermatol· June 2002

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