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Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features JOURNAL ARTICLE published March 2016 in Journal of Human Genetics |
Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy JOURNAL ARTICLE published June 2012 in Journal of Human Genetics |
Noncoding RNAs: a new fine-tuner is a key player of human pathogenesis JOURNAL ARTICLE published January 2017 in Journal of Human Genetics |
A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient JOURNAL ARTICLE published October 2022 in Journal of Human Genetics |
Single-nucleotide polymorphisms in the promoter of the CDK5 gene and lung cancer risk in a Korean population JOURNAL ARTICLE published May 2009 in Journal of Human Genetics |
Impaired interactions between mouse Eya1 harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins JOURNAL ARTICLE published March 2002 in Journal of Human Genetics |
Erratum: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder JOURNAL ARTICLE published May 2017 in Journal of Human Genetics |
Transmission of Y chromosomal microdeletions from father to son through intracytoplasmic sperm injection JOURNAL ARTICLE published September 2002 in Journal of Human Genetics |
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome JOURNAL ARTICLE published July 2017 in Journal of Human Genetics |
RET polymorphisms and the risk of Hirschsprung’s disease in a Chinese population JOURNAL ARTICLE published September 2008 in Journal of Human Genetics |
Genetic structures of the Tibetans and the Deng people in the Himalayas viewed from autosomal STRs JOURNAL ARTICLE published May 2010 in Journal of Human Genetics |
Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model JOURNAL ARTICLE published May 2019 in Journal of Human Genetics Research funded by MEXT | Japan Society for the Promotion of Science (16673093,17J08574) | Japan Agency for Medical Research and Development (17935244) |
ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay JOURNAL ARTICLE published September 2023 in Journal of Human Genetics |
The utility of post-test newborn blood spot screening cards for epigenetic association analyses: association between HIF3A methylation and birth weight-for-gestational age JOURNAL ARTICLE published August 2019 in Journal of Human Genetics Research funded by MEXT | Japan Society for the Promotion of Science (JP17K10174) |
Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients JOURNAL ARTICLE published February 2023 in Journal of Human Genetics |
Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction JOURNAL ARTICLE published February 2023 in Journal of Human Genetics |
X-linked adrenoleukodystrophy: Diagnostic and follow-up system in Japan JOURNAL ARTICLE published February 2011 in Journal of Human Genetics |
Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination JOURNAL ARTICLE published September 2012 in Journal of Human Genetics |
A TP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome JOURNAL ARTICLE published November 2004 in Journal of Human Genetics |
Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease JOURNAL ARTICLE published March 2007 in Journal of Human Genetics |