Facet browsing currently unavailable
Page 3 of 3516 results
Sort by: relevance publication year
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 |
Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10 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 |
Frequent loss of heterozygosity at 3p25-p26 is associated with invasive oral squamous cell carcinoma JOURNAL ARTICLE published May 2001 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 |
Norrbottnian clinical variant of Gaucher disease in Southern Italy JOURNAL ARTICLE published April 2017 in Journal of Human Genetics |
Detecting disease association with rare variants in case-parents studies JOURNAL ARTICLE published May 2017 in Journal of Human Genetics |
A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa JOURNAL ARTICLE published February 2017 in Journal of Human Genetics |
The apolipoprotein CIII T2854G variants are associated with postprandial triacylglycerol concentrations in normolipidemic Korean men JOURNAL ARTICLE published November 2003 in Journal of Human Genetics |
Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion JOURNAL ARTICLE published March 2012 in Journal of Human Genetics |
Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations JOURNAL ARTICLE published February 2012 in Journal of Human Genetics |
Fetiform teratoma was a parthenogenetic tumor arising from a mature ovum JOURNAL ARTICLE published September 2017 in Journal of Human Genetics |
A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia JOURNAL ARTICLE published December 2021 in Journal of Human Genetics |
A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome JOURNAL ARTICLE published August 1999 in Journal of Human Genetics |