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1Academic Journal
المؤلفون: Birgit Stallmeyer, Clara Bühlmann, Rytis Stakaitis, Ann-Kristin Dicke, Farah Ghieh, Luisa Meier, Ansgar Zoch, David MacKenzie MacLeod, Johanna Steingröver, Özlem Okutman, Daniela Fietz, Adrian Pilatz, Antoni Riera-Escamilla, Miguel J. Xavier, Christian Ruckert, Sara Di Persio, Nina Neuhaus, Ali Sami Gurbuz, Ahmet Şalvarci, Nicolas Le May, Kevin McEleny, Corinna Friedrich, Godfried van der Heijden, Margot J. Wyrwoll, Sabine Kliesch, Joris A. Veltman, Csilla Krausz, Stéphane Viville, Donald F. Conrad, Dónal O’Carroll, Frank Tüttelmann
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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2Academic Journal
المؤلفون: Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James P Balhoff, Gareth Baynam, Susan M Bello, Michael Berk, Holli Bertram, Somer Bishop, Hannah Blau, David F Bodenstein, Pablo Botas, Kaan Boztug, Jolana Čady, Tiffany J Callahan, Rhiannon Cameron, Seth J Carbon, Francisco Castellanos, J Harry Caufield, Lauren E Chan, Christopher G Chute, Jaime Cruz-Rojo, Noémi Dahan-Oliel, Jon R Davids, Maudde Dieuleveult, Viniciusde Souza, Bert BA de Vries, Estherde Vries, J Raymond DePaulo, Beata Derfalvi, Ferdinand Dhombres, Claudia Diaz-Byrd, Alexander JM Dingemans, Bruno Donadille, Michael Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V Firth, Yun Freudenberg-Hua, Janice M Fullerton, Davera L Gabriel, Kimberly Gilmour, Jessica Giordano, Fernando S Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Guthrie, Benjamin Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun He, Harshad Hegde, Ingo Helbig, Kateřina Holasová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius OB Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A Koolen, Megan L Kraus, Carlo Kroll, Maaike Kusters, Markus S Ladewig, David Lagorce, Meng Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis-Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L Marazita, Victor Martinez-Glez, Toby H McHenry, Melvin G McInnis, Julie A McMurry, Michaela Mihulová, Caitlin E Millett, Philip B Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julian Nevado, Andrew A Nierenberg, Nikola Novák Čajbiková, John I Nurnberger, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Perezde Nanclares, Amy Peters, Tim Putman, Christina K Rapp, Ana Rath, Justin Reese, Lauren Rekerle, Angharad M Roberts, Suzy Roy, Stephan J Sanders, Catharina Schuetz, Eva C Schulte, Thomas G Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan N Similuk, Eric S Simon, Balwinder Singh, Damian Smedley, Cynthia L Smith, Jake T Smolinsky, Sarah Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair A Tenorio Castano, Pavel Tesner, Rhys H Thomas, Audrey Thurm, Marek Turnovec, Marielle E van Gijn, Nicole A Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ron Wapner, James S Ware, Addo A Wiafe, Samuel A Wiafe, Lisa D Wiggins, Andrew E Williams, Chen Wu, Margot J Wyrwoll, Hui Xiong, Nefize Yalin, Yasunori Yamamoto, Lakshmi N Yatham, Anastasia K Yocum, Allan H Young, Zafer Yüksel, Peter P Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh C Carmody, Nomi L Harris, Monica C Munoz-Torres, Daniel Danis, Christopher J Mungall, Sebastian Köhler, Melissa A Haendel, Peter N Robinson
مصطلحات موضوعية: Biological sciences, Chemical sciences, Environmental sciences, Information and computing sciences, 200409 Mental health, School of Medicine, Faculty of Health, Institute for Innovation in Mental and Physical Health and Clinical Translation
Relation: http://hdl.handle.net/10779/DRO/DU:24562858.v2; https://figshare.com/articles/journal_contribution/The_Human_Phenotype_Ontology_in_2024_phenotypes_around_the_world/24562858
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3Academic Journal
المؤلفون: Ann-Kristin Dicke, Adrian Pilatz, Margot J. Wyrwoll, Margus Punab, Christian Ruckert, Liina Nagirnaja, Kenneth I. Aston, Donald F. Conrad, Sara Di Persio, Nina Neuhaus, Daniela Fietz, Maris Laan, Birgit Stallmeyer, Frank Tüttelmann
المصدر: Communications Biology, Vol 6, Iss 1, Pp 1-7 (2023)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2399-3642
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4
المؤلفون: Sabine Rudnik-Schöneborn, Margot J. Wyrwoll, Frank Tüttelmann, Bettina Toth, Germar-M. Pinggera, Johannes Zschocke
المصدر: Gynäkologische Endokrinologie. 21:107-116
مصطلحات موضوعية: Reproductive Medicine, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, Obstetrics and Gynecology
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5
المؤلفون: Margot J. Wyrwoll, Frank Tüttelmann
المصدر: Die Gynäkologie. 55:401-408
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6
المؤلفون: Ann-Kristin Dicke, Jakob Albrethsen, Bradley L Hoare, Margot J Wyrwoll, Alexander S Busch, Daniela Fietz, Adrian Pilatz, Clara Bühlmann, Anders Juul, Sabine Kliesch, Jörg Gromoll, Ross A D Bathgate, Frank Tüttelmann, Birgit Stallmeyer
المصدر: Human Reproduction.
مصطلحات موضوعية: Reproductive Medicine, Rehabilitation, Obstetrics and Gynecology
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7Academic Journal
المؤلفون: Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James P Balhoff, Gareth Baynam, Susan M Bello, Michael Berk, Holli Bertram, Somer Bishop, Hannah Blau, David F Bodenstein, Pablo Botas, Kaan Boztug, Jolana Čady, Tiffany J Callahan, Rhiannon Cameron, Seth J Carbon, Francisco Castellanos, J Harry Caufield, Lauren E Chan, Christopher G Chute, Jaime Cruz-Rojo, Noémi Dahan-Oliel, Jon R Davids, Maud de Dieuleveult, Vinicius de Souza, Bert BA de Vries, Esther de Vries, J Raymond DePaulo, Beata Derfalvi, Ferdinand Dhombres, Claudia Diaz-Byrd, Alexander JM Dingemans, Bruno Donadille, Michael Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V Firth, Yun Freudenberg-Hua, Janice M Fullerton, Davera L Gabriel, Kimberly Gilmour, Jessica Giordano, Fernando S Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Guthrie, Benjamin Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun Oliver He, Harshad Hegde, Ingo Helbig, Kateřina Holasová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius OB Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A Koolen, Megan L Kraus, Carlo Kroll, Maaike Kusters, Markus S Ladewig, David Lagorce, Meng-Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis-Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L Marazita, Victor Martinez-Glez, Toby H McHenry, Melvin G McInnis, Julie A McMurry, Michaela Mihulová, Caitlin E Millett, Philip B Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julian Nevado, Andrew A Nierenberg, Nikola Novák Čajbiková, John I Nurnberger, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Perez de Nanclares, Amy Peters, Tim Putman, Christina K Rapp, Ana Rath, Justin Reese, Lauren Rekerle, Angharad M Roberts, Suzy Roy, Stephan J Sanders, Catharina Schuetz, Eva C Schulte, Thomas G Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan N Similuk, Eric S Simon, Balwinder Singh, Damian Smedley, Cynthia L Smith, Jake T Smolinsky, Sarah Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair A Tenorio Castano, Pavel Tesner, Rhys H Thomas, Audrey Thurm, Marek Turnovec, Marielle E van Gijn, Nicole A Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ron Wapner, James S Ware, Addo A Wiafe, Samuel A Wiafe, Lisa D Wiggins, Andrew E Williams, Chen Wu, Margot J Wyrwoll, Hui Xiong, Nefize Yalin, Yasunori Yamamoto, Lakshmi N Yatham, Anastasia K Yocum, Allan H Young, Zafer Yüksel, Peter P Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh C Carmody, Nomi L Harris, Monica C Munoz-Torres, Daniel Danis, Christopher J Mungall, Sebastian Köhler, Melissa A Haendel, Peter N Robinson
مصطلحات موضوعية: Biological sciences, Chemical sciences, Environmental sciences, Information and computing sciences, Uncategorised value
Relation: 10779/DRO/DU:24562858.v1; https://figshare.com/articles/journal_contribution/The_Human_Phenotype_Ontology_in_2024_phenotypes_around_the_world/24562858
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المؤلفون: Verena Höffken, Sara Di Persio, Sandra Laurentino, Margot J. Wyrwoll, Nicole Terwort, Anke Hermann, Albrecht Röpke, Manon S. Oud, Joachim Wistuba, Sabine Kliesch, Hermann J. Pavenstädt, Frank Tüttelmann, Nina Neuhaus, Joachim Kremerskothen
المصدر: The Faseb Journal, 37, 5
The Faseb Journal, 37مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetics, Molecular Biology, Biochemistry, Biotechnology
وصف الملف: application/pdf
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9
المؤلفون: Albert Salas-Huetos, Frank Tüttelmann, Antoni Riera-Escamilla, Kenneth I. Aston, Moira K O'Bryan, Miguel J. Xavier, Corinna Friedrich, Joris A. Veltman, Brendan J Houston, Margot J. Wyrwoll, Liina Nagirnaja, Manon S. Oud, Donald F. Conrad, Csilla Krausz
المصدر: Human Reproduction Update
مصطلحات موضوعية: Male, Infertility, medicine.medical_specialty, Evidence-based practice, Reviews, Genomics, Disease, male infertility, Male infertility, gene panel, systematic review, clinical validity, medicine, Animals, Humans, Sex organ, genetics, Genetic Testing, multiple morphological abnormalities of the sperm flagella, AcademicSubjects/MED00460, Infertility, Male, Exome sequencing, Genetic testing, spermatogenic failure, medicine.diagnostic_test, business.industry, High-Throughput Nucleotide Sequencing, Obstetrics and Gynecology, medicine.disease, AcademicSubjects/MED00905, Reproductive Medicine, Family medicine, Medical genetics, next-generation sequencing, Chromosome Deletion, Klinefelter syndrome, gene–disease relationship, business
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المصدر: Medizinische Genetik. 33:3-12
مصطلحات موضوعية: Genetics, Genetics (clinical)
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11
المؤلفون: Lara M Siebert-Kuss, Henrike Krenz, Tobias Tekath, Marius Wöste, Sara Di Persio, Nicole Terwort, Margot J Wyrwoll, Jann-Frederik Cremers, Joachim Wistuba, Martin Dugas, Sabine Kliesch, Stefan Schlatt, Frank Tüttelmann, Jörg Gromoll, Nina Neuhaus, Sandra Laurentino
المصدر: Life science alliance. 6(2)
مصطلحات موضوعية: Male, Germ Cells, Ecology, Semen, Health, Toxicology and Mutagenesis, RNA Splicing, Gene Expression Profiling, Humans, Proteins, Plant Science, Biochemistry, Genetics and Molecular Biology (miscellaneous), Infertility, Male
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12
المؤلفون: James M. Hotaling, Steven E. Boyden, Frank Tüttelmann, Alexandra M. Lopes, Marius Wöste, Albert Salas-Huetos, Sabine Kliesch, Donald F. Conrad, Margot J. Wyrwoll, Douglas T. Carrell, Kenneth I. Aston, João Gonçalves, Liina Nagirnaja
المصدر: Hum Genet
HUMAN GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instnameمصطلحات موضوعية: Adult, Male, Heterozygote, Telomere-Binding Proteins, Mutation, Missense, Cell Cycle Proteins, Biology, Compound heterozygosity, Article, Frameshift mutation, 03 medical and health sciences, Testis, Exome Sequencing, Genetics, medicine, Male Infertility, Humans, Missense mutation, Exome, Spermatogenesis, Genetics (clinical), Aged, Azoospermia, 030304 developmental biology, 0303 health sciences, TERB2, Homozygote, 030305 genetics & heredity, Membrane Proteins, TERB1, Telomere, medicine.disease, Phenotype, Doenças Genéticas, Non-obstructive azoospermia (NOA), DNA-Binding Proteins, Meiosis, medicine.anatomical_structure, MAJIN, Germ cell
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13
المؤلفون: Lara Marie Siebert-Kuss, Henrike Krenz, Tobias Tekath, Marius Wöste, Sara Di Persio, Nicole Terwort, Margot J. Wyrwoll, Jann-Frederik Cremers, Joachim Wistuba, Martin Dugas, Sabine Kliesch, Stefan Schlatt, Frank Tüttelmann, Jörg Gromoll, Nina Neuhaus, Sandra Laurentino
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14
المؤلفون: Rion Brattig Correia, Joana M. Almeida, Margot J. Wyrwoll, Irene Julca, Daniel Sobral, Chandra Shekhar Misra, Leonardo G. Guilgur, Hans-Christian Schuppe, Neide Silva, Pedro Prudêncio, Ana Nóvoa, Ana S. Leocádio, Joana Bom, Moisés Mallo, Sabine Kliesch, Marek Mutwil, Luis M. Rocha, Frank Tüttelmann, Jörg D. Becker, Paulo Navarro-Costa
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15
المصدر: Andrologie ISBN: 9783662619049
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المؤلفون: Margot J. Wyrwoll, Nils Köckerling, Matthias Vockel, Ann-Kristin Dicke, Nadja Rotte, Eva Pohl, Jana Emich, Marius Wöste, Christian Ruckert, Rebecca Wabschke, Jochen Seggewiss, Susanne Ledig, Ann-Christin Tewes, Yvonne Stratis, Jann F. Cremers, Joachim Wistuba, Claudia Krallmann, Sabine Kliesch, Albrecht Röpke, Birgit Stallmeyer, Corinna Friedrich, Frank Tüttelmann
المصدر: European urology.
مصطلحات موضوعية: Urology
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17
المؤلفون: Brendan J Houston, Anne E O’Connor, Degang Wang, Georgia Goodchild, D Jo Merriner, Haitong Luan, Don F Conrad, Liina Nagirnaja, Kenneth I Aston, Sabine Kliesch, Margot J Wyrwoll, Corinna Friedrich, Frank Tüttelmann, Craig Harrison, Moira K O’Bryan, Kelly Walton
المصدر: Endocrinology. 163(3)
مصطلحات موضوعية: Male, endocrine system, Sertoli Cells, Sperm Count, Spermatogonia, Activins, Mice, Inbred C57BL, Mice, Endocrinology, CRISPR-Associated Protein 9, Mutation, Testis, Animals, Humans, Inhibins, Follicle Stimulating Hormone, Spermatogenesis, Infertility, Male, Azoospermia, Inhibin-beta Subunits
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18
المؤلفون: Jann-Frederik Cremers, Nina Neuhaus, Joachim Wistuba, Martin Dugas, Xiaolin Li, Frank Tüttelmann, Gerd Meyer zu Hörste, Margot J. Wyrwoll, Sara Di Persio, Hannes C.A. Drexler, Sabine Kliesch, Stefan Schlatt, Sandra Laurentino, Tobias Tekath, Lara Marie Siebert-Kuss
المصدر: Cell Reports Medicine, Vol 2, Iss 9, Pp 100395-(2021)
Cell Reports Medicineمصطلحات موضوعية: Male, Medicine (General), Transcription, Genetic, Cellular differentiation, Cell, Cell Count, Receptors, Cell Surface, Biology, testis, Ligands, General Biochemistry, Genetics and Molecular Biology, Germline, Article, male infertility, single-cell RNA sequencing, Male infertility, human spermatogenesis, male germline stem cells, R5-920, medicine, Humans, Gene Regulatory Networks, RNA-Seq, stem cell differentiation, Spermatogenesis, Transcription factor, Homeodomain Proteins, spermatogonial stem cells, Stem Cells, Cell Differentiation, medicine.disease, impaired spermatogenesis, Spermatogonia, Chromatin, Cell biology, Cell Compartmentation, medicine.anatomical_structure, Gene Expression Regulation, Early Growth Response Transcription Factors, Stem cell, Single-Cell Analysis, Germ cell
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19
المؤلفون: Frank Tüttelmann, Csilla Krausz, Sabine Kliesch, Alexandra M. Lopes, Willy M. Baarends, Daniel Moreno-Mendoza, Donald F. Conrad, Douglas T. Carrell, Corinna Friedrich, Antoni Riera-Escamilla, Margot J. Wyrwoll, Kenneth I. Aston, Sara Pietroforte, Francesca Cioppi, Kaylee Holleman, Eduard Ruiz-Castañé, Ferran Algaba, Elisabet Ars, Adrian Pilatz, Marc Pybus, Elena Casamonti, Liina Nagirnaja
المساهمون: Developmental Biology
المصدر: Genetics in Medicine, 22(12), 1956-1966. Lippincott Williams & Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
GENETICS IN MEDICINE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)مصطلحات موضوعية: Male, genetics, male infertility, azoospermia, exoma, Cell Cycle Proteins, Bioinformatics, Article, male infertility, Male infertility, Testis, Exome Sequencing, medicine, Humans, meiosis, Clinical significance, Exome, genetics, Genetics (clinical), Exome sequencing, Azoospermia, business.industry, Dissection, azoospermia, medicine.disease, spermatogenesis, Premature ovarian failure, DNA-Binding Proteins, Cohort, Etiology, business
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20
المؤلفون: Hanne Meijers-Heijboer, A. M. M. Van Pelt, Sherman J. Silber, M M Motazacker, Marielle Alders, Inge B. Mathijssen, Claudia Krallmann, A T Clark, Sabine Kliesch, Nadja Rotte, Frank Tüttelmann, Geert Hamer, Marius Wöste, A Meißner, E Kaminsky, Corinna Friedrich, E S van Walree, B Stallmeyer, T J Hunt, Margot J. Wyrwoll
المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, CCA - Cancer biology and immunology, Amsterdam Reproduction & Development (AR&D), Internal medicine, Reproductive Biology Laboratory, ARD - Amsterdam Reproduction and Development, Human Genetics, ACS - Pulmonary hypertension & thrombosis, ANS - Complex Trait Genetics, Center for Reproductive Medicine, APH - Personalized Medicine, APH - Quality of Care, CCA -Cancer Center Amsterdam, Other Research
المصدر: Wyrwoll, M J, van Walree, E S, Hamer, G, Rotte, N, Motazacker, M M, Meijers-Heijboer, H, Alders, M, Meißner, A, Kaminsky, E, Wöste, M, Krallmann, C, Kliesch, S, Hunt, T J, Clark, A T, Silber, S, Stallmeyer, B, Friedrich, C, van Pelt, A M M, Mathijssen, I B & Tüttelmann, F 2021, ' Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes ', Human reproduction (Oxford, England), vol. 37, no. 1, pp. 178-189 . https://doi.org/10.1093/humrep/deab230
Human reproduction (Oxford, England), 37(1), 178-189. Oxford University Pressمصطلحات موضوعية: Proband, Genetics, Infertility, Azoospermia, Male, Rehabilitation, Obstetrics and Gynecology, Cell Cycle Proteins, Biology, medicine.disease, DNA Mismatch Repair, MutS DNA Mismatch-Binding Protein, Male infertility, MSH5, Meiosis, HEK293 Cells, Reproductive Medicine, medicine, Humans, Female, Allele, Exome, Exome sequencing, Infertility, Male
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