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1دورية أكاديمية
المؤلفون: Semira Gonseth, Gary M. Shaw, Ritu Roy, Mark R. Segal, Kripa Asrani, Jasper Rine, Joseph Wiemels, Nicholas J. Marini
المصدر: Epigenetics, Vol 14, Iss 2, Pp 198-213 (2019)
مصطلحات موضوعية: orofacial cleft, birth defect, epigenetics, dna methylation, metastable epiallele, folic acid, Genetics, QH426-470
وصف الملف: electronic resource
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2
المؤلفون: Nicholas J. Marini, Tian Tian, Robert M. Cabrera, Cindy Hu, Aiguo Ren, John W. Steele, Sung Eun Kim, Richard H. Finnell, Ying Linda Lin, Bogdan J. Wlodarczyk, Linlin Wang, Ethan N. Hoffman, Menuka Karki, Gary M. Shaw, Yunping Lei, Wei Yang, Xiao Han, Xuanye Cao
المصدر: Hum Mol Genet
مصطلحات موضوعية: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Apoptosis, Biology, medicine.disease_cause, Nervous System Malformations, Andrology, Tacrolimus Binding Proteins, 03 medical and health sciences, symbols.namesake, Mice, 0302 clinical medicine, Risk Factors, Wnt3A Protein, Genetics, medicine, Animals, Humans, Genetic Predisposition to Disease, Neural Tube Defects, Molecular Biology, Gene, Spinal Dysraphism, Genetics (clinical), Sanger sequencing, Homeodomain Proteins, Mice, Knockout, Mutation, Spina bifida, Embryogenesis, Neural tube, Infant, Newborn, Embryo, General Medicine, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Knockout mouse, symbols, Female, General Article, 030217 neurology & neurosurgery, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::393e50bbfaf7ede56ce49174d6d54724
https://europepmc.org/articles/PMC7645715/ -
3دورية أكاديمية
المؤلفون: Nicholas J Marini, Thomas J Hoffmann, Edward J Lammer, Jill Hardin, Katherine Lazaruk, Jason B Stein, Dennis A Gilbert, Crystal Wright, Anna Lipzen, Len A Pennacchio, Suzan L Carmichael, John S Witte, Gary M Shaw, Jasper Rine
المصدر: PLoS ONE, Vol 6, Iss 11, p e28408 (2011)
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Thomas J Hoffmann, Nicholas J Marini, John S Witte
المصدر: PLoS ONE, Vol 5, Iss 11, p e13584 (2010)
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Nicholas J Marini, Paul D Thomas, Jasper Rine
المصدر: PLoS Genetics, Vol 6, Iss 5, p e1000968 (2010)
وصف الملف: electronic resource
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6
المؤلفون: Kripa Asrani, Jasper Rine, Nicholas J. Marini, Gary M. Shaw
المصدر: Genetic Testing and Molecular Biomarkers
مصطلحات موضوعية: 0301 basic medicine, Epigenomics, Computational biology, bloodspot, Biology, Polymorphism, Single Nucleotide, Epigenesis, Genetic, Specimen Handling, 03 medical and health sciences, chemistry.chemical_compound, Short Reports, Profiling (information science), Humans, Epigenetics, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Genetics, DNA methylation, epigenetics, Infant, Newborn, Reproducibility of Results, General Medicine, Limiting, DNA, DNA Fingerprinting, genomic DNA, 030104 developmental biology, chemistry, CpG Islands, Nucleic Acid Amplification Techniques
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46bb13cd3cdf1bf61b2277485aab8814
http://europepmc.org/articles/PMC5568181 -
7
المؤلفون: Richard H. Finnell, Shruti Wadhwa, Nick H. Gargurevich, Robert M. Cabrera, Ethan N. Hoffman, Gary M. Shaw, Nicholas J. Marini, John W. Steele, Nikitha Bhavani, Xuanye Cao, Wei Yang, Chun‐Quan Cai, Margaret Elizabeth Ross, Tian Tian, Vanessa Aguiar-Pulido, Yunping Lei, Patrick Bi
المصدر: Human mutation. 41(4)
مصطلحات موضوعية: DNA Repair, DNA repair, Fluorescent Antibody Technique, Gene Expression, Cell Cycle Proteins, Biology, Risk Assessment, Article, Frameshift mutation, Cell Line, 03 medical and health sciences, Loss of Function Mutation, Risk Factors, Genetics, medicine, Humans, Genetic Predisposition to Disease, Neural Tube Defects, Gene, Spinal Dysraphism, Genetics (clinical), Embryonic Stem Cells, 030304 developmental biology, Neurons, 0303 health sciences, 030305 genetics & heredity, Neural tube, Neural stem cell, Cell biology, medicine.anatomical_structure, Case-Control Studies, Mutation, PAX6, Stem cell, Neural development, DNA Damage
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8
المؤلفون: Wei Yang, Kripa Asrani, Nicholas J. Marini, Gary M. Shaw, Jasper Rine
المصدر: American journal of medical genetics. Part A, vol 179, iss 7
American Journal of Medical Genetics. Part aمصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, genetic association, Type I, Gene Expression, Bone Morphogenetic Protein 4, 030105 genetics & heredity, Exon, Gene Frequency, Genetics (clinical), Genetics, 0303 health sciences, 030305 genetics & heredity, Cleft Palate, Ferredoxin-NADP Reductase, Betaine-Homocysteine S-Methyltransferase, Original Article, Female, Risk, Cleft Lip, Clinical Sciences, Biology, Frameshift mutation, 03 medical and health sciences, folic acid, Humans, Genetic Predisposition to Disease, Craniofacial, Allele, Gene, Bone Morphogenetic Protein Receptors, Type I, Alleles, Genetic association, 030304 developmental biology, Gene Expression Profiling, Infant, Newborn, Infant, rare variants, Original Articles, Bone Morphogenetic Protein Receptors, Newborn, MTRR, BMPR1B, Wnt Proteins, 030104 developmental biology, Genetic Loci, Case-Control Studies, Mutation
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cb0c6b44986c9f313baa0790382abc5
https://escholarship.org/uc/item/4350z591 -
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المؤلفون: Mark R. Segal, Jasper Rine, Semira Gonseth, Gary M. Shaw, Ritu Roy, Nicholas J. Marini, Joseph L. Wiemels, Kripa Asrani
المصدر: Epigenetics, vol 14, iss 2
Epigenetics
Epigenetics, vol. 14, no. 2, pp. 198-213مصطلحات موضوعية: 0301 basic medicine, Male, Epigenomics, Cancer Research, Reproductive health and childbirth, Medical Biochemistry and Metabolomics, Epigenesis, Genetic, 0302 clinical medicine, Pediatric, DNA methylation, Methylation, 3. Good health, CpG site, Maternal Exposure, 030220 oncology & carcinogenesis, Female, Disease Susceptibility, Research Paper, Offspring, Cleft Lip, LIM-Homeodomain Proteins, birth defect, Biology, Case-Control Studies, Cleft Lip/genetics, Cleft Lip/prevention & control, DNA Methylation, Epigenomics/methods, Folic Acid/administration & dosage, Humans, Infant, Newborn, LIM-Homeodomain Proteins/genetics, MicroRNAs/genetics, Transcription Factors/genetics, Wnt Proteins/genetics, Orofacial cleft, epigenetics, folic acid, metastable epiallele, Andrology, 03 medical and health sciences, Genetic, Complementary and Integrative Health, Genetics, Epigenetics, Dental/Oral and Craniofacial Disease, Molecular Biology, Gene, Nutrition, Prevention, Human Genome, Infant, Epigenome, Newborn, Wnt Proteins, MicroRNAs, 030104 developmental biology, Biochemistry and Cell Biology, Transcription Factors, Epigenesis, Developmental Biology
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66b348783b2ac15eb951bce0d58b0772
https://escholarship.org/uc/item/1k0481c5 -
10
المصدر: G3: Genes|Genomes|Genetics
مصطلحات موضوعية: medicine.medical_treatment, Molecular Sequence Data, Coenzymes, Cystathionine beta-Synthase, Heme, Saccharomyces cerevisiae, Investigations, vitamin B6, Cofactor, Saccharomyces, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Enzyme Stability, Genetics, medicine, Humans, Amino Acid Sequence, cysteine biosynthesis, Molecular Biology, Peptide sequence, Alleles, Genetics (clinical), 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, Cofactor binding, Protease, biology, cystathionine β-synthase, Cystathionine beta synthase, Molecular biology, Vitamin B 6, Amino acid, CYS4, Enzyme, Amino Acid Substitution, chemistry, Biochemistry, biology.protein, 030217 neurology & neurosurgery, Protein Binding
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb617a8298b1d12ea9aebabb0e07f143
https://doi.org/10.1534/g3.113.006916
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