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1
المؤلفون: Agnieszka Malcher, Tomasz Stokowy, Andrea Berman, Marta Olszewska, Piotr Jedrzejczak, Dawid Sielski, Adam Nowakowski, Natalia Rozwadowska, Alexander N. Yatsenko, Maciej K. Kurpisz
المصدر: Andrology
مصطلحات موضوعية: Male, Nucleotides, Urology, Endocrinology, Diabetes and Metabolism, Calcium-Binding Proteins, DNA Helicases, Immunoglobulins, Membrane Proteins, Nuclear Proteins, N-Acetylglucosaminyltransferases, Endocrinology, Reproductive Medicine, Argonaute Proteins, Mutation, Exome Sequencing, Humans, Transketolase, Azoospermia, Transcription Factors
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52ed1dc809b8aad8c7c89250c79a1897Test
https://hdl.handle.net/11250/3045447Test -
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المؤلفون: Dolores J. Lamb, Lata Murthy, Alexander N. Yatsenko, Ruihong Chen, Martin M. Matzuk, Derek O'Neil, Angshumoy Roy, Paola A. Arias-Mendoza
المصدر: MHR: Basic science of reproductive medicine. 18:14-21
مصطلحات موضوعية: Male, Embryology, Molecular Sequence Data, Egg protein, Semen analysis, Teratozoospermia, Biology, Male infertility, Mice, Genetics, medicine, Animals, Humans, Amino Acid Sequence, Nuclear protein, Acrosome, Molecular Biology, Infertility, Male, Adaptor Proteins, Signal Transducing, medicine.diagnostic_test, Egg Proteins, Golgi Matrix Proteins, Membrane Proteins, Membrane Transport Proteins, Nuclear Proteins, Obstetrics and Gynecology, Articles, Cell Biology, medicine.disease, Sperm, Reproductive Medicine, Mutation, Sperm Head, Carrier Proteins, PICK1, Sequence Alignment, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::706b6ede9ccaccf04c1bdfd702bc633eTest
https://doi.org/10.1093/molehr/gar057Test -
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المؤلفون: Joseph S. Sanfilippo, Frank Tüttelmann, Thomas M. Jaffe, Birgit Westernströer, Albrecht Röpke, Alexander N. Yatsenko, Sabine Kliesch, Andrea J. Berman, Aleksandar Rajkovic, Maciej Kurpisz, Andrew Georgiadis, Svetlana A. Yatsenko, Stefan Schlatt, Marta Olszewska
المصدر: The New England journal of medicine, vol 372, iss 22
مصطلحات موضوعية: Male, Chromosomal Proteins, Non-Histone, Cell Cycle Proteins, urologic and male genital diseases, medicine.disease_cause, Polymerase Chain Reaction, Medical and Health Sciences, Male infertility, Exon, Mice, Genes, X-Linked, Testis, Missense mutation, 2.1 Biological and endogenous factors, Aetiology, Oligonucleotide Array Sequence Analysis, Azoospermia, Genetics, Sanger sequencing, Mutation, Nucleic Acid Hybridization, General Medicine, Chromosomal Proteins, Meiosis, symbols, endocrine system, Biology, Article, Andrology, symbols.namesake, General & Internal Medicine, medicine, Animals, Humans, Gene, Infertility, Male, Hemizygote, urogenital system, Contraception/Reproduction, Human Genome, Non-Histone, X-Linked, medicine.disease, Genes, Infertility, Macaca, Comparative genomic hybridization
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37968bdd30c2a4f5d3a52bdddb86d09dTest
https://escholarship.org/uc/item/6mt375x4Test -
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المؤلفون: Martin M. Matzuk, Lata Murthy, Angshumoy Roy, Dolores J. Lamb, Alexander N. Yatsenko, Lang Ma, Ruihong Chen, Wei Yan
المصدر: Human Molecular Genetics. 15:3411-3419
مصطلحات موضوعية: Male, Infertility, Molecular Sequence Data, Mutation, Missense, Gene Expression, Semen, Biology, medicine.disease_cause, Male infertility, Andrology, Germline mutation, Genetics, medicine, Humans, Missense mutation, Amino Acid Sequence, Genetic Testing, RNA, Messenger, Molecular Biology, Gene, Infertility, Male, Genetics (clinical), Mutation, Reverse Transcriptase Polymerase Chain Reaction, Sequence Analysis, RNA, Intracellular Signaling Peptides and Proteins, Proteins, Oligospermia, General Medicine, medicine.disease, Spermatozoa, Sperm, Meiosis, Amino Acid Substitution, Dimerization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9613c23abfa4f9802dfce01dd46a4256Test
https://doi.org/10.1093/hmg/ddl417Test -
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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: 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
