Publications by authors named "H 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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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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