American_Journal  

Documents (145) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
PMC 2775821 Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfec 15.5 KB 2020-09-15 4
-
PMC 2820181 Functional Gene Group Analysis Reveals a Role of Synaptic Heterotrimeric G Proteins in Cognitive Abi 43.9 KB 2020-12-30 4
-
PMC 3591859 Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita Abstract Dyskeratosis congeni 21.8 KB 2021-06-04 3
-
PMC 3882725 Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures Abstract The proper de 25.1 KB 2021-06-04 3
-
PMC 4067558 Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders Abstract Rare 57.4 KB 2021-06-04 3
-
PMC 4129400 Identification and Validation of Genetic Variants that Influence Transcription Factor and Cell Signa 62.6 KB 2021-06-04 3
-
PMC 4129401 Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy Abstra 45.5 KB 2021-06-04 2
-
PMC 4129407 Fine Mapping Major Histocompatibility Complex Associations in Psoriasis and Its Clinical Subtypes A 33.4 KB 2021-06-04 3
-
PMC 4157140 Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cyt 42.6 KB 2021-06-04 3
-
PMC 4157143 Transcriptome Sequencing of a Large Human Family Identifies the Impact of Rare Noncoding Variants A 46.2 KB 2021-06-04 3
-