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المؤلفون: Sidra Qureshi, Jimmaline J. Hardy, Christopher Pombar, Andrea J. Berman, Agnieszka Malcher, Tara Gingrich, Rachel Hvasta, Jannah Kuong, Sarah Munyoki, Kathleen Hwang, Kyle E. Orwig, Jawad Ahmed, Marta Olszewska, Maciej Kurpisz, Donald F. Conrad, Muhammad Jaseem Khan, Alexander N. Yatsenko
المصدر: Frontiers in Genetics. 14
مصطلحات موضوعية: Genetics, Molecular Medicine, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::45991cd44f828fa4c8f4c35be0f3cd86Test
https://doi.org/10.3389/fgene.2023.1134849Test -
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المؤلفون: Alexander N. Yatsenko, Paul J. Turek
المصدر: Journal of Assisted Reproduction and Genetics. 35:933-941
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Offspring, Developmental Disabilities, media_common.quotation_subject, Reproductive medicine, Physiology, Review, Biology, Risk Assessment, Paternal Age, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Genetics, medicine, Humans, Epigenetics, skin and connective tissue diseases, Genetics (clinical), media_common, 030219 obstetrics & reproductive medicine, Mental Disorders, Reproduction, Age Factors, Pregnancy Outcome, Obstetrics and Gynecology, General Medicine, medicine.disease, Spermatozoa, Sperm, Human genetics, 030104 developmental biology, medicine.anatomical_structure, Reproductive Medicine, Female, sense organs, Germ cell, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30c350d3f6884863859a0c08210134b2Test
https://doi.org/10.1007/s10815-018-1148-yTest -
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المؤلفون: A.C. Zielen, Nijole Pollock, Alexander N. Yatsenko, Aleksandar Rajkovic, Jawad Ahmed, Musarrat Jabeen, Muhammad Jaseem Khan, Rubina Nazli, Huaiyang Jiang
مصطلحات موضوعية: 0301 basic medicine, Genetics, 030219 obstetrics & reproductive medicine, business.industry, Primary ovarian insufficiency, ComputingMethodologies_IMAGEPROCESSINGANDCOMPUTERVISION, Article, Frameshift mutation, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Text mining, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Medicine, business, Genetics (clinical), LHCGR gene, ComputingMilieux_MISCELLANEOUS
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56b29a0b9ae54f3a9297255b001a5d19Test
https://europepmc.org/articles/PMC6456337Test/ -
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المؤلفون: Svetlana A. Yatsenko, Alexander N. Yatsenko, Urvashi Surti, Aleksandar Rajkovic, Michelle A. Wood-Trageser, Barbara J. Jennings, Heather A. Bakos, Stephen Cercone, Alessandro Iannaccone, Marina Kedrov, Kathleen Vitullo, Archana Kishore
المصدر: Clinical Genetics. 89:82-87
مصطلحات موضوعية: 0301 basic medicine, Genetics, Microarray analysis techniques, Breakpoint, Biology, Molecular biology, Xq28, 03 medical and health sciences, 030104 developmental biology, OPN1LW, Gene cluster, OPN1MW, Genetics (clinical), X chromosome, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::aa7f3576d76ccec5451e4ae12c55e961Test
https://doi.org/10.1111/cge.12638Test -
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المؤلفون: Suneeta Madan-Khetarpal, Svetlana A. Yatsenko, Jessica Sebastian, Alexander N. Yatsenko, Philip Sweet, Aleksandar Rajkovic, Emir Tas, Francis X. Schneck, Nijole Pollock, Selma F. Witchel
المصدر: American journal of medical genetics. Part A. 173(1)
مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Bicornuate uterus, HOXA3, Foot Deformities, Congenital, 030105 genetics & heredity, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Genetics, medicine, Humans, Abnormalities, Multiple, Hand-Foot-Genital Syndrome, Gene, Genetics (clinical), Genetic Association Studies, Oligonucleotide Array Sequence Analysis, Sequence Deletion, Homeodomain Proteins, Comparative Genomic Hybridization, Genitourinary system, Infant, medicine.disease, Phenotype, Pedigree, 030104 developmental biology, Urogenital Abnormalities, Hand Deformities, Congenital, HOXA13, Chromosomes, Human, Pair 7
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfadfe1d1d0eea77d449bac520bc9d34Test
https://pubmed.ncbi.nlm.nih.gov/27649277Test -
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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: James R. Lupski, Svetlana A. Yatsenko, Alexander N. Yatsenko, Kinga Szigeti, S.W. Cheung, William J. Craigen, Pawel Stankiewicz
المصدر: Clinical Genetics. 66:128-136
مصطلحات موضوعية: Genetics, Pathology, medicine.medical_specialty, biology, Heart disease, medicine.diagnostic_test, business.industry, Heart malformation, Breakpoint, In situ hybridization, medicine.disease, DiGeorge syndrome, biology.protein, Medicine, Abnormality, business, HAND2, Genetics (clinical), Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a9c8eef68101b2873ebe05a33ef84eecTest
https://doi.org/10.1111/j.1399-0004.2004.00290.xTest -
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المصدر: Human Mutation. 21:636-644
مصطلحات موضوعية: Male, Sequence analysis, DNA Mutational Analysis, Molecular Sequence Data, ABCA4, Locus (genetics), Exon, Retinal Diseases, Genetics, medicine, Humans, Coding region, Deletion mapping, Genetic Testing, Allele, Alleles, Genetics (clinical), Base Sequence, biology, medicine.disease, Molecular biology, Pedigree, Stargardt disease, Blotting, Southern, biology.protein, ATP-Binding Cassette Transporters, Female, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7434e53e0f42a11eb3c57432f139a4d4Test
https://doi.org/10.1002/humu.10219Test -
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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