المؤلفون: Talal Algoufi, Firdous Abdulwahab, Fowzan S. Alkuraya, Hessa S. Alsaif, Mohammed A. Aldahmesh, Fatimah Aljubran, Arif O. Khan, Haifa Alsedairy, Eissa Faqeih, Muneera J. Alshammari, Sateesh Maddirevula, Mais Hashem, Hadeel Alsharif, Salil A. Lachke, Niema Ibrahim, Nisha Patel, Ahmed Qudair, Dorota Monies, Deepti Anand, Mohammed Al-Owain

المصدر: Human Genetics. 136:205-225

مصطلحات موضوعية: 0301 basic medicine, Microcephaly, Candidate gene, genetic structures, Cleft Lip, Locus (genetics), Biology, Cataract, Article, Mice, Sterol 14-Demethylase, 03 medical and health sciences, 0302 clinical medicine, Locus heterogeneity, Protein Interaction Mapping, Genetics, medicine, Animals, Guanine Nucleotide Exchange Factors, Humans, Global developmental delay, Allele, Child, Alleles, Genetics (clinical), Exome sequencing, Mice, Knockout, Homozygote, Chromosome Mapping, Membrane Proteins, Genomics, Sequence Analysis, DNA, medicine.disease, eye diseases, Human genetics, Phenotype, 030104 developmental biology, Gene Expression Regulation, Genetic Loci, 030221 ophthalmology & optometry, sense organs, Carrier Proteins, Pol1 Transcription Initiation Complex Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49c89f029f4826edd2bb190bc02c14ff
https://doi.org/10.1007/s00439-016-1747-6