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Acknowledgment to the reviewers in 2022 JOURNAL ARTICLE published April 2023 in Journal of Human Genetics |
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Clinical and molecular characterization of Italian patients affected by Cohen syndrome JOURNAL ARTICLE published December 2007 in Journal of Human Genetics |
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Atypical β-S haplotypes: classification and genetic modulation in patients with sickle cell anemia JOURNAL ARTICLE published March 2019 in Journal of Human Genetics Research funded by Fundação de Amparo à Pesquisa do Estado de São Paulo (2011/14168-5) |
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Early modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphism JOURNAL ARTICLE published June 2008 in Journal of Human Genetics |
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Association of the –381T/C promoter variation of the brain natriuretic peptide gene with low bone-mineral density and rapid postmenopausal bone loss JOURNAL ARTICLE published February 2003 in Journal of Human Genetics |
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Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation JOURNAL ARTICLE published April 2010 in Journal of Human Genetics |
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Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations JOURNAL ARTICLE published June 2016 in Journal of Human Genetics |
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A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract JOURNAL ARTICLE published February 2016 in Journal of Human Genetics |
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Identification of novel L2HGDH gene mutations and update of the pathological spectrum JOURNAL ARTICLE published January 2010 in Journal of Human Genetics |
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Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC) JOURNAL ARTICLE published February 2011 in Journal of Human Genetics |
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Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case JOURNAL ARTICLE published September 2022 in Journal of Human Genetics |
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De novo 617G–A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva JOURNAL ARTICLE published December 2006 in Journal of Human Genetics |
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Imputation approach for deducing a complete mitogenome sequence from low-depth-coverage next-generation sequencing data: application to ancient remains from the Moon Pyramid, Mexico JOURNAL ARTICLE published June 2017 in Journal of Human Genetics |
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Association study to evaluate the serotonin transporter and apolipoprotein E genes in frontotemporal lobar degeneration in Italy JOURNAL ARTICLE published December 2008 in Journal of Human Genetics |
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Factor V Leiden mutation in Arabs in Kuwait by real-time PCR: different values for different Arabs JOURNAL ARTICLE published April 2010 in Journal of Human Genetics |
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Dysosteosclerosis is also caused by TNFRSF11A mutation JOURNAL ARTICLE published June 2018 in Journal of Human Genetics |
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Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes JOURNAL ARTICLE published May 2013 in Journal of Human Genetics |
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Could inherited predisposition drive non-obese fatty liver disease? Results from German tertiary referral centers JOURNAL ARTICLE published May 2018 in Journal of Human Genetics |
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Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions JOURNAL ARTICLE published July 2008 in Journal of Human Genetics |
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Erratum: The diagnostic utility of exome sequencing in Joubert syndrome and related disorders JOURNAL ARTICLE published October 2015 in Journal of Human Genetics |