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Beverley Anderson

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American Journal of Human Genetics|December 1, 2014

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndromeDagmar Wieczorek, William G Newman, Thomas Wieland, et al.

European Journal of Human Genetics : EJHG|November 27, 2014

Further delineation of the KAT6B molecular and phenotypic spectrumTamsin Gannon, Rahat Perveen, Hélene Schlecht, et al.

American Journal of Medical Genetics. Part A|January 22, 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1Yanick J Crow, Diana S Chase, Johanna Lowenstein Schmidt, et al.

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Search research articles

Showing results (31-40 of 33) with videos related to

Sort By:

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You have reached the last page of results.This site can display upto 33 results.

American Journal of Human Genetics|December 1, 2014

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndromeDagmar Wieczorek, William G Newman, Thomas Wieland, et al.

European Journal of Human Genetics : EJHG|November 27, 2014

Further delineation of the KAT6B molecular and phenotypic spectrumTamsin Gannon, Rahat Perveen, Hélene Schlecht, et al.

American Journal of Medical Genetics. Part A|January 22, 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1Yanick J Crow, Diana S Chase, Johanna Lowenstein Schmidt, et al.

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