المؤلفون: V. Samuel Raj, Ramendra Pati Pandey, Ghulam Mohammad, Arpana Vibhuti, Manjula Miglani, Archana Gupta, Manjari Rain, Qadar Pasha, Tashi Thinlas

المصدر: Human Molecular Genetics. 29:3094-3106

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Telomerase, DNA Repair, Genotype, DNA damage, Hypertension, Pulmonary, Altitude Sickness, Biology, law.invention, 03 medical and health sciences, 0302 clinical medicine, Downregulation and upregulation, law, Internal medicine, High-altitude pulmonary edema, Genetics, medicine, Humans, Genetic Predisposition to Disease, Hypoxia, Molecular Biology, Alleles, Genetic Association Studies, Genetics (clinical), Polymerase chain reaction, Aged, Tankyrases, Altitude, Telomere Homeostasis, Heterozygote advantage, General Medicine, Middle Aged, Telomere, medicine.disease, Pulmonary edema, Healthy Volunteers, 030104 developmental biology, Endocrinology, 030220 oncology & carcinogenesis, Female, Polymorphism, Restriction Fragment Length, DNA Damage

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe063af0e599fa626ebe853e4fae511fTest
https://doi.org/10.1093/hmg/ddaa205Test

المؤلفون: Shir Toubiana, Omer Edni, Shira Sagie, Nirit Katzin, Joseph Weinberg, Tal Kozlovski, Tzviel Frostig, Irit Bar-Am, Sara Selig

المصدر: Human Molecular Genetics. 26:4244-4256

مصطلحات موضوعية: Male, 0301 basic medicine, Primary Immunodeficiency Diseases, Centromere, DNMT3B, Biology, medicine.disease_cause, DNA methyltransferase, Cell Line, 03 medical and health sciences, Genetics, medicine, Humans, Abnormalities, Multiple, DNA (Cytosine-5-)-Methyltransferases, Molecular Biology, Metaphase, Telomere Shortening, Genetics (clinical), Sequence (medicine), Chromosome Aberrations, Mutation, Immunologic Deficiency Syndromes, High-Throughput Nucleotide Sequencing, Karyotype, General Medicine, DNA Methylation, Telomere, Subtelomere, Pedigree, 030104 developmental biology, Face, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b3187e3feb1d2a172f4ef582197c0a7Test
https://doi.org/10.1093/hmg/ddx313Test

المؤلفون: Nicolas Pottier, Ibrahima Ba, Maname Benyelles, Emmanuelle Ollivier, Patrick Revy, Laetitia Kermasson, Elodie Lainey, Cécile Fourrage, Alicia Fernandes, Raphael Borie, Marie-Françoise O'Donohue, Caroline Kannengiesser, Chantal Lagresle-Peyrou, Hilario Nunes, Anne-Sophie Gamez, Bruno Crestani, Denis Caillaud, Fanny Morice-Picard, Jean-Pierre de Villartay, Isabelle Callebaut, Christelle Ménard, Clarisse Cazelles, Ambroise Marçais, Pierre-Emmanuel Gleizes

المساهمون: Laboratoire de Biologie Moléculaire de la Cellule (LBMC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Hématologie Biologique, Hôpital Robert Debré, AP-HP, Physiopathologie et Epidémiologie des Maladies Respiratoires (PHERE (UMR_S_1152 / U1152)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Clinical Investigation Center in Biotherapy, Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pneumologie [Avicenne], Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), The Clinical Bioinformatics laboratory (Equipe Inserm U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département pneumologie et addictologie [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Service de Pneumologie et Allergologie, CHU Clermont-Ferrand, Impact de l'environnement chimique sur la santé humaine - ULR 4483 (IMPECS), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Physiopathologie et Epidemiologie de l'Insuffisance Respiratoire, Laboratoire de biologie moléculaire eucaryote (LBME), Centre National de la Recherche Scientifique (CNRS)-Centre de Biologie Intégrative (CBI), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS), Institut de minéralogie et de physique des milieux condensés (IMPMC), Université Pierre et Marie Curie - Paris 6 (UPMC)-IPG PARIS-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Hôpital Bichat - Claude Bernard, Developpement Normal et Pathologique du Système Immunitaire, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS)-Centre de Biologie Intégrative (CBI), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Diderot - Paris 7 (UPD7)-Institut de Physique du Globe de Paris (IPG Paris)-Centre National de la Recherche Scientifique (CNRS), ANR-16-CE11-0029,RIBOMAN,Une approche intégrative de la biogenèse des ribosomes(2016), École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Hôpital Avicenne, Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Impact de l'environnement chimique sur la santé humaine (IMPECS)

المصدر: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2020, ⟨10.1093/hmg/ddaa011⟩
Human Molecular Genetics, Oxford University Press (OUP), 2020, 29 (6), pp.907-922. ⟨10.1093/hmg/ddaa011⟩
Human Molecular Genetics, 2020, ⟨10.1093/hmg/ddaa011⟩

مصطلحات موضوعية: 0301 basic medicine, Premature aging, Male, Telomerase, Transcription, Genetic, Pulmonary Fibrosis, Sequence Homology, Hoyeraal-Hreidarsson syndrome, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], Biology, medicine.disease_cause, Dyskerin, Dyskeratosis Congenita, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Intellectual Disability, Genetics, medicine, Humans, Amino Acid Sequence, Promoter Regions, Genetic, Molecular Biology, Genetics (clinical), Aged, Mutation, Fetal Growth Retardation, Infant, Newborn, Nuclear Proteins, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, General Medicine, Middle Aged, medicine.disease, Ribonucleoproteins, Small Nuclear, 3. Good health, Telomere, Pedigree, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunology, RNA, Ribosomal, 030220 oncology & carcinogenesis, Cancer research, Microcephaly, Female, Dyskeratosis congenita

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71a9599c63ffa27494e55f4339109d3bTest
https://pubmed.ncbi.nlm.nih.gov/31985013Test

المؤلفون: Rosalind A. Eeles, Thomas A. Sellers, Chenan Zhang, Rayjean J. Hung, Brian E. Henderson, Christopher I. Amos, Henrik Grönberg, Peter Kraft, Sonja I. Berndt, Fredrick R. Schumacher, Jenny Chang-Claude, Zsofia Kote-Jarai, Georgia Chenevix-Trench, James McKay, Jian Gong, Jennifer A. Doherty, Irene L. Andrulis, Alvaro N.A. Monteiro, Kathleen E. Malone, Lifang Hou, David J. Hunter, Stephen J. Chanock, Li Li, Richard S. Houlston, Ali Amin Al Olama, Esther M. John, Stephen B. Gruber, Marilie D. Gammon, Polly A. Newcomb, Paul Brennan, Joachim Heinrich, Andrew T. Chan, Kenneth Muir, Brandon L. Pierce, Thomas J. Hudson, Fredrik Wiklund, Stephen Burgess, Alice S. Whittemore, Julia A. Knight, Christopher A. Haiman, Habibul Ahsan, Yufei Wang, Giske Ursin, Loic Le Marchand, Michael O. Woods, Maria Teresa Landi, Sara Lindström, Angela Risch, Maria Timofeeva, John L. Hopper, Heike Bickeböller

المصدر: Human Molecular Genetics
Hum. Mol. Genet. 24, 5356-5366 (2015)

مصطلحات موضوعية: Adult, Male, Risk, Biology, Bioinformatics, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Neoplasms, Mendelian randomization, Genetics, medicine, Odds Ratio, Humans, Genetic Predisposition to Disease, Lung cancer, Molecular Biology, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, Aged, 0303 health sciences, Confounding, Association Studies Articles, Cancer, Genetic Variation, Telomere Homeostasis, Mendelian Randomization Analysis, General Medicine, Odds ratio, Middle Aged, medicine.disease, Lung cancer susceptibility, 3. Good health, 030220 oncology & carcinogenesis, Case-Control Studies, Adenocarcinoma, Genetic determinants, telomere length, cancers, Mendelian randomization study, Female

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94946716adf86f1b5fc6a261dd41a1beTest
http://europepmc.org/articles/PMC4550826Test

المؤلفون: Seung Han Baek, Gary M. Hunninghake, Michael H. Cho, Shikang Liu, Edwin K. Silverman, Amitabh Sharma, Brian D. Hobbs, Arda Halu

المصدر: Hum Mol Genet

مصطلحات موضوعية: Glycation End Products, Advanced, Male, MAP Kinase Signaling System, Gene regulatory network, Genome-wide association study, Disease, Biology, Bioinformatics, 03 medical and health sciences, Idiopathic pulmonary fibrosis, Pulmonary Disease, Chronic Obstructive, 0302 clinical medicine, Genetics, medicine, Humans, Anaplastic Lymphoma Kinase, Gene Regulatory Networks, Molecular Biology, Gene, Lung, Genetics (clinical), 030304 developmental biology, 0303 health sciences, COPD, Telomere Homeostasis, General Medicine, respiratory system, medicine.disease, Phenotype, Idiopathic Pulmonary Fibrosis, respiratory tract diseases, Extracellular Matrix, medicine.anatomical_structure, 030228 respiratory system, Female, General Article, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4025af8af5bde0cc92370727f6f2448Test
https://pubmed.ncbi.nlm.nih.gov/30997486Test

المؤلفون: Min Han, Tian Xu, Min Zhou, Gezhi Xu, Rener Xu, Cheryl M. Craft, Kai Lei, Yuan Zhuang, Juehua Yu

المصدر: Human Molecular Genetics. 20:1061-1073

مصطلحات موضوعية: Male, Interkinetic nuclear migration, genetic structures, LINC complex, Telomere-Binding Proteins, Nerve Tissue Proteins, Biology, Retina, Photoreceptor cell, Mice, Cell Movement, Genetics, medicine, Animals, Photoreceptor Cells, Outer nuclear layer, Molecular Biology, Genetics (clinical), Cell Nucleus, Mice, Knockout, Nesprin, Membrane Proteins, Nuclear Proteins, Articles, General Medicine, eye diseases, Protein Structure, Tertiary, Cell biology, Mice, Inbred C57BL, Cytoskeletal Proteins, medicine.anatomical_structure, Dynactin, Female, sense organs, SUN domain, Microtubule-Associated Proteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::543e563f2506ee41d18d0ed5cee4f3c3Test
https://doi.org/10.1093/hmg/ddq549Test

المؤلفون: Inderjeet Dokal, Tom Vulliamy, Richard Beswick, Michael Kirwan, Amanda J. Walne

المصدر: Human Molecular Genetics

مصطلحات موضوعية: Male, Candidate gene, Neutropenia, Genetic Linkage, DNA Mutational Analysis, Poikiloderma, Biology, TINF2, Polymorphism, Single Nucleotide, Dyskeratosis Congenita, Consanguinity, 03 medical and health sciences, 0302 clinical medicine, Chromosome 16, Genetic linkage, Genetics, medicine, Humans, Molecular Biology, Rothmund–Thomson syndrome, Genetics (clinical), 030304 developmental biology, 0303 health sciences, GTPase-Activating Proteins, Homozygote, Rothmund-Thomson Syndrome, Bone marrow failure, Nuclear Proteins, Articles, General Medicine, Telomere, medicine.disease, 3. Good health, Case-Control Studies, 030220 oncology & carcinogenesis, Mutation, Female, Pigmentation Disorders, Dyskeratosis congenita

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3f208ee9ea18eff9b3383cf568eeb2aTest
https://doi.org/10.1093/hmg/ddq371Test

المؤلفون: Tangui Le Guen, Gérard Couillault, Laetitia Gaillard, Jean Soulier, Capucine Picard, Jean-Pierre de Villartay, Fabien Touzot, Patrick Nitschke, Isabelle Callebaut, Arturo Londoño-Vallejo, Michael Schertzer, Nada Jabado, Alain Fischer, Mylène Perderiset, Wassila Carpentier, Patrick Revy, Laurent Jullien

المساهمون: Thomas, Danielle, Centre de recherche en Biologie Cellulaire (CRBM), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'immuno-hématologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Telomeres and Cancer Laboratory, Institut Curie [Paris], Plateforme Post-génomique de la Pitié-Salpêtrière (P3S), UMS omique (OMIQUE), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pédiatrie (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Pathologie cellulaire : aspects moléculaires et viraux / Pathologie et Virologie Moléculaire, Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Collège de France - Chaire Médecine expérimentale (A. Fischer), Collège de France (CdF (institution)), Institut de minéralogie et de physique des milieux condensés (IMPMC), Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Diderot - Paris 7 (UPD7)-Institut de Physique du Globe de Paris (IPG Paris)-Centre National de la Recherche Scientifique (CNRS), Department of Human Genetics , Department of Experimental Medicine, Radboud University Medical Center [Nijmegen], Université Montpellier 1 (UM1)-Université Montpellier 2 - Sciences et Techniques (UM2)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Chaire Médecine expérimentale (A. Fischer), Université Pierre et Marie Curie - Paris 6 (UPMC)-IPG PARIS-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Centre de recherches de biochimie macromoléculaire ( CRBM ), Université Montpellier 1 ( UM1 ) -Université Montpellier 2 - Sciences et Techniques ( UM2 ) -IFR122-Centre National de la Recherche Scientifique ( CNRS ), Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Plateforme Post-génomique de la Pitié-Salpêtrière ( P3S ), UMS omique ( OMIQUE ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Service de pediatrie, Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris]-Université Paris Diderot - Paris 7 ( UPD7 ) -Institut Universitaire d'Hématologie ( IUH ), Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Institut de minéralogie et de physique des milieux condensés ( IMPMC ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -IPG PARIS-Université Paris Diderot - Paris 7 ( UPD7 ) -Centre National de la Recherche Scientifique ( CNRS ), Department of Human Genetics

المصدر: Human Molecular Genetics
Human Molecular Genetics, 2013, 22 (16), pp.3239-3249. ⟨10.1093/hmg/ddt178⟩
Human Molecular Genetics, Oxford University Press (OUP), 2013, 22 (16), pp.3239-3249. ⟨10.1093/hmg/ddt178⟩
Human Molecular Genetics, Oxford University Press (OUP), 2013, 22 (16), pp.3239-3249. 〈10.1093/hmg/ddt178〉

مصطلحات موضوعية: Genome instability, DNA Replication, Male, DNA damage, DNA repair, Genetic Linkage, Hoyeraal-Hreidarsson syndrome, Biology, medicine.disease_cause, Dyskeratosis Congenita, Genomic Instability, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Genetics, medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Exome, Molecular Biology, [ SDV.BBM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Telomerase, Genetics (clinical), Cells, Cultured, Telomere Shortening, 030304 developmental biology, 0303 health sciences, Mutation, Fetal Growth Retardation, Sequence Analysis, RNA, DNA replication, DNA Helicases, Infant, Telomere Homeostasis, General Medicine, Telomere, medicine.disease, 3. Good health, 030220 oncology & carcinogenesis, Child, Preschool, Microcephaly, Female, Sequence Alignment, Dyskeratosis congenita, DNA Damage

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da1b430ede84442e129d5950bb176817Test
https://pubmed.ncbi.nlm.nih.gov/23591994Test

المؤلفون: Yan-Ling Fei, Joy L. Nishikawa, Rosanna Weksberg, Cheryl Shuman, Jessie M. Cameron, Ingrid Ambus, Paul D. Sadowski, Oana Caluseriu, Leslie Steele, Adam C. Smith, Madeline Li, Peter N. Ray, Jeremy A. Squire, Cuihong Wei

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Genetic Markers, Male, Beckwith-Wiedemann Syndrome, Potassium Channels, RNA, Untranslated, Centromere, Beckwith–Wiedemann syndrome, Gene Expression, Biology, medicine.disease_cause, Cell Line, Genomic Imprinting, Neoplasms, Genetics, medicine, Humans, Imprinting (psychology), Child, Molecular Biology, Genetics (clinical), KCNQ Potassium Channels, KCNQ1OT1, Chromosomes, Human, Pair 11, General Medicine, DNA Methylation, Fibroblasts, Telomere, medicine.disease, Uniparental disomy, Potassium Channels, Voltage-Gated, Overgrowth syndrome, KCNQ1 Potassium Channel, Mutation, DNA methylation, Female, RNA, Long Noncoding, Carcinogenesis, Genomic imprinting

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb24b0926c95993a324fb43e5723f699Test
https://doi.org/10.1093/hmg/10.26.2989Test

المؤلفون: George W. Padberg, Lodewijk A. Sandkuijl, Silvère M. van der Maarel, Richard J F L Lemmers, Rune R. Frants, Petra G.M. van Overveld, Giancarlo Deidda

المصدر: Human Molecular Genetics. 9:2879-2884

مصطلحات موضوعية: Male, Mitosis, Biology, Translocation, Genetic, Chromosome regions, Genetics, medicine, Humans, Facioscapulohumeral muscular dystrophy, Molecular Biology, Genetics (clinical), Netherlands, Repetitive Sequences, Nucleic Acid, Chromosomes, Human, Pair 10, Mosaicism, Nucleic Acid Hybridization, Chromosome, General Medicine, Telomere, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Electrophoresis, Gel, Pulsed-Field, Chromosome 17 (human), Chromosome 4, Female, Chromosomes, Human, Pair 4, Trinucleotide repeat expansion, Chromosome 21, Chromosome 22

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2356c9aed48b3ec4bbca58fd0d9a3cabTest
https://doi.org/10.1093/hmg/9.19.2879Test