RICHARD KELLERMAYER to Mutation
This is a "connection" page, showing publications RICHARD KELLERMAYER has written about Mutation.
Connection Strength
0.258
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Further evidence for EpCAM as the gene for congenital tufting enteropathy. Am J Med Genet A. 2010 Jan; 152A(1):222-4.
Score: 0.032
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Genotype-phenotype correlations in MYCN-related Feingold syndrome. Hum Mutat. 2008 Sep; 29(9):1125-32.
Score: 0.029
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Autosomal-dominant calcium ATPase disorders. J Invest Dermatol. 2006 Nov; 126(11):2370-6.
Score: 0.025
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A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency. J Hum Genet. 2006; 51(5):495-497.
Score: 0.024
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The versatile RECQL4. Genet Med. 2006 Apr; 8(4):213-6.
Score: 0.024
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Aminoglycosides as potential pharmacogenetic agents in the treatment of Hailey-Hailey disease. J Invest Dermatol. 2006 Jan; 126(1):229-31.
Score: 0.024
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Hailey-Hailey disease as an orthodisease of PMR1 deficiency in Saccharomyces cerevisiae. FEBS Lett. 2005 Apr 11; 579(10):2021-5.
Score: 0.023
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NOD2 Polymorphisms May Direct a Crohn Disease Phenotype in Patients With Very Early-Onset Inflammatory Bowel Disease. J Pediatr Gastroenterol Nutr. 2023 12 01; 77(6):748-752.
Score: 0.020
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Extracellular Ca(2+) sensing contributes to excess Ca(2+) accumulation and vacuolar fragmentation in a pmr1Delta mutant of S. cerevisiae. J Cell Sci. 2003 Apr 15; 116(Pt 8):1637-46.
Score: 0.020
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The Golgi apparatus plays a significant role in the maintenance of Ca2+ homeostasis in the vps33Delta vacuolar biogenesis mutant of Saccharomyces cerevisiae. J Biol Chem. 1999 Feb 26; 274(9):5939-47.
Score: 0.015
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Presenile cataract: consider cholestanol. Arch Ophthalmol. 2006 Oct; 124(10):1490-2.
Score: 0.006
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CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. Clin Genet. 2006 Sep; 70(3):246-9.
Score: 0.006
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A patient with Rothmund-Thomson syndrome and all features of RAPADILINO. Arch Dermatol. 2005 May; 141(5):617-20.
Score: 0.006
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Mutations in the yeast Hsp40 chaperone protein Ydj1 cause defects in Axl1 biogenesis and pro-a-factor processing. J Biol Chem. 1999 Nov 26; 274(48):34396-402.
Score: 0.004