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1
المؤلفون: Dong Wu, li Zhang, Yuzhen Qiang, Kaiyu Wang
مصطلحات موضوعية: Genetics, Exon, Pseudogene, Mutation (genetic algorithm), Coding region, SBDS, Biology, Gene mutation, Compound heterozygosity, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9604044eaa6bf62400089d58c41551c0Test
https://doi.org/10.1101/2021.09.03.21263106Test -
2
المؤلفون: Pablo Castro-Hartmann, Shengjiang Tan, Penny Wright, David J. Adams, Alexandre Faille, Christine Hilcenko, Norberto Escudero-Urquijo, Pekka Jaako, Alan J. Warren, Chi C. Wong
مصطلحات موضوعية: Eukaryotic translation, EIF6, Chemistry, Eukaryotic Large Ribosomal Subunit, Protein subunit, Protein biosynthesis, Translation (biology), SBDS, Ribosome, Cell biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5e45e8774752f2a669f538203b3da057Test
https://doi.org/10.1101/2021.09.06.459071Test -
3
المؤلفون: Feifan Xiao, Lin Yang, Wei Lu, Wenhao Zhou, Huijun Wang, Xinran Dong, Yulan Lu, Bo Liu, Xiaomin Peng, Gang Li, Bingbing Wu, Yaqiong Wang
مصطلحات موضوعية: Genetics, Sanger sequencing, Shwachman–Diamond syndrome, business.industry, Pseudogene, Haplotype, SBDS, medicine.disease, Exon, symbols.namesake, symbols, Medicine, Gene conversion, business, Exocrine pancreatic insufficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b3b4f8d23098e8b53b7baec4a45e79feTest
https://doi.org/10.1101/2021.08.22.21262444Test -
4
المؤلفون: Alison A. Bertuch, Elif Asik, Nimrat Chatterjee
مصطلحات موضوعية: DNA damage, Poly ADP ribose polymerase, Ribosome biogenesis, SBDS, medicine.disease, medicine.disease_cause, Cell biology, chemistry.chemical_compound, chemistry, medicine, Diamond–Blackfan anemia, Homologous recombination, Carcinogenesis, DNA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4dac2eb66573dec493d77427f8e07065Test
https://doi.org/10.1101/2020.08.13.250068Test -
5
المؤلفون: Anfal Osama Mohamed Sati, Sara Ali Abdallah Ali, Manal Satti Awad Elsied, Mohamed Ahmed Hassan Salih, Rouaa Babikir Ahmed Abduallah
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Shwachman–Diamond syndrome, Multiple sequence alignment, Chromosome, Single-nucleotide polymorphism, SBDS, Biology, medicine.disease, Exon, Failure to thrive, medicine, medicine.symptom, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b49992f889c7c52b014ba96fd7947ffTest
https://doi.org/10.1101/542654Test -
6
المؤلفون: Young Bae Sohn, Hyeon Ho Kim, Che Ry Hong, Seong Dong Jeong, Jawon Lee, Suk-Won Jin, Hyoung Jin Kang, Ah-Ra Kim, Soo Jin Son, Sangmoon Lee, Jung Min Ko, Chang Hoon Shin, Je Kyung Seong, Taekyeong Yoo, Oleksandr Kokhan, Ok Hwa Kim, Nathan T. Wright, Jun-Dae Kim, Tae Joon Cho, Murim Choi, Jae Sung Ko
مصطلحات موضوعية: Genetics, 0303 health sciences, Ribosomopathy, Somatic cell, Biology, SBDS, medicine.disease, Uniparental disomy, Ribosome assembly, 03 medical and health sciences, Chromosome 15, 0302 clinical medicine, 030220 oncology & carcinogenesis, medicine, Allele, Allele frequency, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::47752f46de27bd666cfff68040d71b69Test
https://doi.org/10.1101/483362Test -
7
المؤلفون: H S Maniar, J R Mullen, C Gu, D Philipova, J Lu, S J Brill
المصدر: Genes & Development. 10:2222-2233
مصطلحات موضوعية: Protein subunit, Molecular Sequence Data, Saccharomyces cerevisiae, Protomer, Biology, medicine.disease_cause, Replication Protein A, Heterotrimeric G protein, Escherichia coli, Genetics, medicine, Amino Acid Sequence, Promoter Regions, Genetic, Peptide sequence, Replication protein A, Sequence Deletion, Recombination, Genetic, Mutation, Binding Sites, Molecular Structure, Sequence Homology, Amino Acid, Mutagenesis, SBDS, Molecular biology, DNA-Binding Proteins, enzymes and coenzymes (carbohydrates), Biochemistry, Mutagenesis, Site-Directed, Plasmids, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4229aa419a35e84bb1c1c884a8b78764Test
https://doi.org/10.1101/gad.10.17.2222Test