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Identification of novel rare mutations of DACT1 in human neural tube defects JOURNAL ARTICLE published October 2012 in Human Mutation |
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Algorithm for efficientPKHD1mutation screening in autosomal recessive polycystic kidney disease (ARPKD) JOURNAL ARTICLE published March 2005 in Human Mutation |
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Identification of novel variants in transforming growth factor-beta 1 (TGFB1) gene and association analysis with bone mineral density JOURNAL ARTICLE published September 2003 in Human Mutation |
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The IMGT/HLA and IPD databases JOURNAL ARTICLE published December 2006 in Human Mutation |
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Single base-pair substitutions in pathology and evolution: Two sides to the same coin JOURNAL ARTICLE published 1996 in Human Mutation |
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Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency JOURNAL ARTICLE published July 2001 in Human Mutation |
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Detection of point mutations by solid-phase methods JOURNAL ARTICLE published 1994 in Human Mutation |
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A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria JOURNAL ARTICLE published July 2006 in Human Mutation |
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Hereditary coproporphyria: Exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene JOURNAL ARTICLE published 1997 in Human Mutation |
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Detection of new variants in the apolipoprotein B (Apo B) gene by PCR-SSCP JOURNAL ARTICLE published 1996 in Human Mutation |
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Detection of new variants in the apolipoprotein B (Apo B) gene by PCR‐SSCP JOURNAL ARTICLE published 1996 in Human Mutation |
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Spectrum ofCLN6mutations in variant late infantile neuronal ceroid lipofuscinosis JOURNAL ARTICLE published July 2003 in Human Mutation |
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ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE) JOURNAL ARTICLE published November 2004 in Human Mutation |
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Retinitis Pigmentosa Mutations ofSNRNP200Enhance Cryptic Splice-Site Recognition JOURNAL ARTICLE published March 2014 in Human Mutation |
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Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes JOURNAL ARTICLE published 15 March 2010 in Human Mutation |
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Cytokines as genetic modifiers in K5���/���mice and in human epidermolysis bullosa simplex JOURNAL ARTICLE published May 2009 in Human Mutation |
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Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome JOURNAL ARTICLE published January 2008 in Human Mutation |
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Mutation analysis in patients with Wilson disease: Identification of 4 novel mutations JOURNAL ARTICLE published 1999 in Human Mutation |
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Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome JOURNAL ARTICLE published January 2022 in Human Mutation Research funded by Japan Society for the Promotion of Science (18K19504,20H03636) | Japan Agency for Medical Research and Development (JP20ek0109301,JP20ek0109470) |
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Heterogeneity ofNSD1alterations in 116 patients with Sotos syndrome JOURNAL ARTICLE published November 2007 in Human Mutation |