-
1دورية أكاديمية
المؤلفون: Yabumoto, Megan, Kianmahd, Jessica, Singh, Meghna, Palafox, Maria F, Wei, Angela, Elliott, Kathryn, Goodloe, Dana H, Dean, S Joy, Gooch, Catherine, Murray, Brianna K, Swartz, Erin, Vergano, Samantha A Schrier, Towne, Meghan C, Nugent, Kimberly, Roeder, Elizabeth R, Kresge, Christina, Pletcher, Beth A, Grand, Katheryn, Graham, John M, Gates, Ryan, Gomez‐Ospina, Natalia, Ramanathan, Subhadra, Clark, Robin Dawn, Glaser, Kimberly, Benke, Paul J, Cohen, Julie S, Fatemi, Ali, Mu, Weiyi, Baranano, Kristin W, Madden, Jill A, Gubbels, Cynthia S, Yu, Timothy W, Agrawal, Pankaj B, Chambers, Mary‐Kathryn, Phornphutkul, Chanika, Pugh, John A, Tauber, Kate A, Azova, Svetlana, Smith, Jessica R, O’Donnell‐Luria, Anne, Medsker, Hannah, Srivastava, Siddharth, Krakow, Deborah, Schweitzer, Daniela N, Arboleda, Valerie A
المصدر: Molecular Genetics & Genomic Medicine. 9(10)
مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Congenital Structural Anomalies, Clinical Research, Pediatric, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Genetic Testing, Aetiology, 2.1 Biological and endogenous factors, Congenital, Abnormalities, Multiple, Alleles, Blepharophimosis, Cohort Studies, Congenital Hypothyroidism, Craniofacial Abnormalities, Facies, Genetic Association Studies, Genetic Counseling, Genetic Loci, Genetic Predisposition to Disease, Genotype, Heart Defects, Congenital, Histone Acetyltransferases, Humans, Intellectual Disability, Joint Instability, Kidney, Male, Mutation, Patella, Phenotype, Psychomotor Disorders, Scrotum, Urogenital Abnormalities, CRISPR, Genitopatellar syndrome, KAT6B-related disorders, phenotypic spectrum, Say-Barber-Biesecker-Young-Simpson syndrome, variable expressivity, rare genetic diagnosis, variable expressivity, rare genetic diagnosis, Medicinal and Biomolecular Chemistry, Clinical Sciences, Medicinal and biomolecular chemistry
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/9ct9z1smTest
-
2دورية أكاديمية
المؤلفون: Yan, Tianyang, Desai, Heta S, Boatner, Lisa M, Yen, Stephanie L, Cao, Jian, Palafox, Maria F, Jami‐Alahmadi, Yasaman, Backus, Keriann M
المصدر: ChemBioChem. 22(10)
مصطلحات موضوعية: Analytical Chemistry, Chemical Sciences, Human Genome, Genetics, Biotin, Cycloaddition Reaction, Cysteine, HEK293 Cells, Humans, Iodoacetamide, Ion Mobility Spectrometry, Peptides, Proteomics, Solid-Phase Synthesis Techniques, cysteine, chemoproteomics, high-field asymmetric waveform ion mobility spectrometry, LC-MS, MS, single-pot, solid-phase-enhanced sample-preparation, LC-MS/MS, single-pot, solid-phase-enhanced sample-preparation, Medicinal and Biomolecular Chemistry, Biochemistry and Cell Biology, Organic Chemistry, Biochemistry and cell biology, Medicinal and biomolecular chemistry
الوصول الحر: https://escholarship.org/uc/item/6jb8z9pwTest
-
3دورية أكاديمية
المصدر: Molecular Systems Biology. 17(2)
مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Amino Acids, Cell Line, Computational Biology, Databases, Genetic, Genetic Association Studies, Genetic Variation, Genomics, Humans, Jurkat Cells, Models, Molecular, Proteomics, amino acid reactivity, chemoproteomics, genetic pathogenicity prediction, inter‐, database mapping, multi‐, omics, inter-database mapping, multi-omics, Biochemistry and Cell Biology, Other Biological Sciences, Bioinformatics, Biochemistry and cell biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7q29b441Test
-
4دورية أكاديمية
المصدر: Cell Chemical Biology ; volume 30, issue 6, page 683-698.e3 ; ISSN 2451-9456
الإتاحة: https://doi.org/10.1016/j.chembiol.2023.04.004Test
https://api.elsevier.com/content/article/PII:S2451945623000909?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2451945623000909?httpAccept=text/plainTest