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المؤلفون: Aleksandar Rajkovic, Lori Hoffner, Mirka W. Jones, Urvashi Surti, Megan M. McGuire, Alexander N. Yatsenko
المساهمون: Shomron, Noam
المصدر: PloS one, vol 7, iss 3
PLoS ONE
PLoS ONE, Vol 7, Iss 3, p e33251 (2012)مصطلحات موضوعية: lcsh:Medicine, Exon, Leiomyomatosis, Complementary, Genome Databases, 2.1 Biological and endogenous factors, Missense mutation, Exome, Aetiology, lcsh:Science, Exome sequencing, Genetics, Multidisciplinary, Mediator Complex, Obstetrics and Gynecology, Genomics, musculoskeletal system, female genital diseases and pregnancy complications, Leiomyoma, surgical procedures, operative, Uterine Neoplasms, Medicine, Female, Sequence Analysis, Research Article, DNA, Complementary, Uterine fibroids, General Science & Technology, Molecular Sequence Data, Biology, MED12, Clinical Research, Genome Analysis Tools, Genetic Mutation, medicine, Humans, Genetic Predisposition to Disease, neoplasms, Genetic Association Studies, Base Sequence, Contraception/Reproduction, Human Genome, lcsh:R, Computational Biology, Sequence Analysis, DNA, DNA, medicine.disease, Molecular biology, body regions, Fibroid Tumors (Uterine), Mutation, North America, lcsh:Q, Population Genetics
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35b667184d4c9f804222b5fa4b9ba1e2Test
https://escholarship.org/uc/item/2n91w5t4Test -
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المؤلفون: Kathleen, Hwang, Alexander N, Yatsenko, Carolina J, Jorgez, Sarmistha, Mukherjee, Roopa Lata, Nalam, Martin M, Matzuk, Dolores J, Lamb
المصدر: Annals of the New York Academy of Sciences. 1214
مصطلحات موضوعية: Male, Reproductive Techniques, Assisted, Animals, Humans, Mendelian Randomization Analysis, Spermatogenesis, Infertility, Male, Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::451315e534278c211d6452cb02809630Test
https://pubmed.ncbi.nlm.nih.gov/21382200Test -
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المؤلفون: Theodore G. Wensel, James R. Lupski, Richard A. Lewis, Alexander N. Yatsenko, Noah F. Shroyer
المصدر: Human molecular genetics. 10(23)
مصطلحات موضوعية: Male, Aging, genetic structures, Blotting, Western, DNA Mutational Analysis, ABCA4, Biology, medicine.disease_cause, Transfection, Cell Line, Macular Degeneration, Adenosine Triphosphate, Retinitis pigmentosa, Genetics, medicine, Missense mutation, Humans, Allele, Molecular Biology, Genetics (clinical), Alleles, Family Health, Mutation, Dystrophy, Membrane Proteins, Eye Diseases, Hereditary, General Medicine, DNA, medicine.disease, Null allele, eye diseases, Pedigree, Stargardt disease, Mutagenesis, biology.protein, ATP-Binding Cassette Transporters, Female, sense organs, Plasmids, Protein Binding
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73f51db5cb80f44fa0bc98c7e0c97e74Test
https://pubmed.ncbi.nlm.nih.gov/11726554Test -
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المصدر: Human genetics. 108(4)
مصطلحات موضوعية: Adult, Male, Adolescent, Mutation, Missense, ABCA4, Biology, medicine.disease_cause, Gene mapping, Retinal Diseases, Chromosome Segregation, Genetics, medicine, Missense mutation, Coding region, Humans, Allele, Age of Onset, Child, Gene, Genetics (clinical), Aged, Mutation, Chromosome Mapping, Middle Aged, medicine.disease, Pedigree, Stargardt disease, biology.protein, ATP-Binding Cassette Transporters, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::304efc8fb5b2e3d9498c287b66d0c347Test
https://pubmed.ncbi.nlm.nih.gov/11379881Test -
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المؤلفون: Alexander N. Yatsenko, Dolores J. Lamb, Peter N. Schlegel, Denise R. Archambeault, Martin M. Matzuk
المصدر: Biology of Reproduction. 85:186-186
مصطلحات موضوعية: Genetics, Reproductive Medicine, microRNA, Identification (biology), Single-nucleotide polymorphism, Cell Biology, General Medicine, Biology, X chromosome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f8b73de98d963c5abbceb345805caaedTest
https://doi.org/10.1093/biolreprod/85.s1.186Test -
36دورية أكاديميةAn ABCA4 genomic deletion in patients with Stargardt disease(Communicated by Haig H. Kazazian, Jr.).
المؤلفون: Alexander N. Yatsenko
المصدر: Human Mutation; Jun2003, Vol. 21 Issue 6, p636, 9p
مصطلحات موضوعية: GENOMES, GENETIC mutation, CHROMOSOMES, DISEASES, GENETICS
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المؤلفون: Barbara Panasiuk, Piotr Jedrzejczak, Alina T. Midro, Danuta Zastavna, Marta Olszewska, Svetlana A. Yatsenko, Nataliya Huleyuk, Ewa Wiland, Andrew Georgiadis, Maciej Kurpisz, Alexander N. Yatsenko
المصدر: Molecular Cytogenetics
مصطلحات موضوعية: medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, viruses, Chromosomal translocation, Biology, Bioinformatics, Biochemistry, Male infertility, medicine, Genetics, Genetics(clinical), De novo whole arm dic(9, 13)(p11.2, p12) translocation, Meiotic chromosomes, Molecular Biology, Genetics (clinical), Biochemistry, medical, Research, Biochemistry (medical), Cytogenetics, medicine.disease, Molecular medicine, Human genetics, Aneuploidy rates in leukocytes, Molecular Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76974cbd273828c65b0f40a51a194221Test