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A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14 JOURNAL ARTICLE published October 2005 in Journal of Human Genetics |
BCS1L mutations produce Fanconi syndrome with developmental disability JOURNAL ARTICLE published March 2022 in Journal of Human Genetics |
Genome-wide association study identifies APOE locus influencing plasma p-tau181 levels JOURNAL ARTICLE published August 2022 in Journal of Human Genetics |
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes JOURNAL ARTICLE published June 2022 in Journal of Human Genetics |
Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases JOURNAL ARTICLE published April 2017 in Journal of Human Genetics |
TFAP2B mutation and dental anomalies JOURNAL ARTICLE published August 2017 in Journal of Human Genetics |
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic JOURNAL ARTICLE published December 2018 in Journal of Human Genetics |
The power to detect genetic linkage for quantitative traits in the Utah CEPH pedigrees JOURNAL ARTICLE published February 2005 in Journal of Human Genetics |
Identification of unique DNA methylation sites in Kabuki syndrome using whole genome bisulfite sequencing and targeted hybridization capture followed by enzymatic methylation sequencing JOURNAL ARTICLE published December 2022 in Journal of Human Genetics Research funded by Japan Agency for Medical Research and Development (JP19ek0109234) | MEXT | Japan Society for the Promotion of Science (JP25293084) |
Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region JOURNAL ARTICLE published February 2010 in Journal of Human Genetics |
Association analysis of polymorphisms in the upstream region of the human dopamine D4 receptor gene (DRD4) with schizophrenia and personality traits JOURNAL ARTICLE published January 2001 in Journal of Human Genetics |
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman JOURNAL ARTICLE published February 2017 in Journal of Human Genetics |
Identification of novel L2HGDH gene mutations and update of the pathological spectrum JOURNAL ARTICLE published January 2010 in Journal of Human Genetics |
Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin JOURNAL ARTICLE published January 2013 in Journal of Human Genetics |
Expression of HSPF1 and LIM in the lymphoblastoid cells derived from patients with bipolar disorder and schizophrenia JOURNAL ARTICLE published May 2004 in Journal of Human Genetics |
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 |
A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract JOURNAL ARTICLE published February 2016 in Journal of Human Genetics |
Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach JOURNAL ARTICLE published June 2011 in Journal of Human Genetics |
High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain) JOURNAL ARTICLE published July 2006 in Journal of Human Genetics |
Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability JOURNAL ARTICLE published May 2022 in Journal of Human Genetics Research funded by Bezmiâlem Vakif Üniversitesi (42019/20,42019/20,42019/20,42019/20,42019/20) |