المؤلفون: I. Parenti, C. Gervasini, J. Pozojevic, K. S. Wendt, E. Watrin, J. Azzollini, D. Braunholz, K. Buiting, A. Cereda, H. Engels, L. Garavelli, R. Glazar, B. Graffmann, L. Larizza, H. J. Lüdecke, M. Mariani, M. Masciadri, J. Pié, F. J. Ramos, S. Russo, A. Selicorni, M. Stefanova, T. M. Strom, R. Werner, J. Wierzba, G. Zampino, G. Gillessen Kaesbach, D. Wieczorek, F. J. Kaiser

المساهمون: I. Parenti, C. Gervasini, J. Pozojevic, K.S. Wendt, E. Watrin, J. Azzollini, D. Braunholz, K. Buiting, A. Cereda, H. Engel, L. Garavelli, R. Glazar, B. Graffmann, L. Larizza, H.J. Lüdecke, M. Mariani, M. Masciadri, J. Pié, F.J. Ramo, S. Russo, A. Selicorni, M. Stefanova, T.M. Strom, R. Werner, J. Wierzba, G. Zampino, G. Gillessen Kaesbach, D. Wieczorek, F.J. Kaiser

مصطلحات موضوعية: cohesin, Cornelia de Lange syndrome, HDAC8, mosaicism, X-inactivation, genetic, genetics (clinical), Settore MED/03 - Genetica Medica

Relation: info:eu-repo/semantics/altIdentifier/pmid/26671848; info:eu-repo/semantics/altIdentifier/wos/WOS:000374974600007; volume:89; issue:5; firstpage:564; lastpage:573; numberofpages:10; journal:CLINICAL GENETICS; http://hdl.handle.net/2434/449022; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84956676199

الاتاحة: http://hdl.handle.net/2434/449022
https://doi.org/10.1111/cge.12717

المؤلفون: M. Koch, N. Bechtel, K. Buiting, K. Speitel, U. Noßwitz, B. Horsthemke, Dagmar Wieczorek, Kevin Rostasy

المصدر: Neuropediatrics. 47

مصطلحات موضوعية: Genetics, business.industry, Angelman syndrome, Pediatrics, Perinatology and Child Health, Paternal uniparental disomy, Medicine, Robertsonian translocation, Neurology (clinical), General Medicine, business, medicine.disease_cause, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cdf21586802f9bd6c40dcebbe9ce3f32
https://doi.org/10.1055/s-0036-1583689

المؤلفون: J. Beygo, V. Citro, A. Sparago, A. De Crescenzo, F. Cerrato, M. Heitmann, K. Rademacher, A. Guala, T. Enklaar, C. Anichini, M. C. Silengo, N. Graf, D. Prawitt, B. Horstemke, K. Buiting, A. Riccio, CUBELLIS, MARIA VITTORIA

المساهمون: J., Beygo, V., Citro, A., Sparago, A., De Crescenzo, F., Cerrato, M., Heitmann, K., Rademacher, A., Guala, T., Enklaar, C., Anichini, M. C., Silengo, N., Graf, D., Prawitt, Cubellis, MARIA VITTORIA, B., Horstemke, K., Buiting, A., Riccio

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000313531500011; volume:22; firstpage:544; lastpage:557; numberofpages:14; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/11588/531449; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84872373720

الاتاحة: http://hdl.handle.net/11588/531449
https://doi.org/10.1093/hmg/dds465

المؤلفون: I, Parenti, C, Gervasini, J, Pozojevic, K S, Wendt, E, Watrin, J, Azzollini, D, Braunholz, K, Buiting, A, Cereda, H, Engels, L, Garavelli, R, Glazar, B, Graffmann, L, Larizza, H J, Lüdecke, M, Mariani, M, Masciadri, J, Pié, F J, Ramos, S, Russo, A, Selicorni, M, Stefanova, T M, Strom, R, Werner, J, Wierzba, G, Zampino, G, Gillessen-Kaesbach, D, Wieczorek, F J, Kaiser

المساهمون: Cell biology, Università degli Studi di Milano [Milano] (UNIMI), Institut für Humangenetik Lübeck, Universität zu Lübeck [Lübeck], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Università degli Studi di Milano-Bicocca [Milano] (UNIMIB), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione 'Istituto Neurologico Nazionale C. Mondino', Institute of Human Genetics - Institut für Humangenetik [Essen], Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen)-Universitat Duisberg-Essen, IRCCS Istituto Auxologico Italiano, Clinica Pediatrica, Università cattolica del Sacro Cuore [Milano] (Unicatt), Bundesministerium für Bildung und Forschung, ZonMw, Agence Nationale de la Recherche, Society of Pediatric Psychology, FIS PI12-01318, Spain's Ministry of Health-ISCIII, B20, Gobierno de Aragón, SAL31-ID 17292, Accordo Quadro Università-Regione Lombardia, Università degli Studi di Milano = University of Milan (UNIMI), Universität zu Lübeck = University of Lübeck [Lübeck], Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Università degli Studi di Milano-Bicocca = University of Milano-Bicocca (UNIMIB)

المصدر: Clinical Genetics, 89(5), 564-573. Wiley-Blackwell Publishing Ltd
Clinical Genetics
Clinical Genetics, Wiley, 2016, 89 (5), pp.564-573. ⟨10.1111/cge.12717⟩
Clinical Genetics, 2016, 89 (5), pp.564-573. ⟨10.1111/cge.12717⟩

مصطلحات موضوعية: Male, Genotype, [SDV]Life Sciences [q-bio], Medizin, Sequence Homology, Genetic Counseling, Severity of Illness Index, Histone Deacetylases, Risk Factors, X Chromosome Inactivation, De Lange Syndrome, Genetics, Humans, Amino Acid Sequence, Child, Genetics (clinical), Cohesin, Sequence Homology, Amino Acid, Base Sequence, Mosaicism, Facies, Sequence Analysis, DNA, DNA, Cornelia de Lange syndrome, Repressor Proteins, Amino Acid, Phenotype, Facial Asymmetry, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, HDAC8, Face, Mutation, X-inactivation, Female, Sequence Analysis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e59bb9753566cf4c587bcbcc9e5a3167
http://hdl.handle.net/10807/115198

المؤلفون: Diana Mitter, Gabriele Gillessen-Kaesbach, K. Buiting

المصدر: Monatsschrift Kinderheilkunde. 155:741-746

مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, medicine, Fish , Surgery, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1b44ad6bac1306fffe3013268b5c94fb
https://doi.org/10.1007/s00112-007-1531-8

المؤلفون: D. Birnbaum, N.Z. Parsa, C. Flores, A.G. Shilov, B. Sèle, U. Claussen, M. Gastaldi, J. Zimmer, B. Andréo, A.F. Markham, D.T. Bonthron, H.S. Tenenhouse, H. Lovec, O.I. Olopade, R. Hernandez, D. Adrian, S. Rousseaux, A. Frady, N.B. Rubtsov, M. Goldfarb, J.M. Trent, K.J. Gratton, B.G. Beatty, P. Eydoux, N. Tommerup, M. Schmid, D.R. Lohmann, J. Benet, S.K. Bohlander, N.V. Rubtsova, A. Girardet, P. Mühlig, T.P. Moynihan, D. Stephan, R. Hliscs, M.H. Dreyling, Y. Zhu, J. Torresani, J. Navarro, J.P. Grillasca, X.-Y. Zhang, N.T. Bech-Hansen, W. Jiang, M. Dean, H.H. Quek, G.J. Pappanicolaou, B. Wainwright, J.P. Charlieu, H. Hartung, S.M. Zakian, M.A. Peters, J.L. Coate, M.B. Qumsiyeh, C. Wicking, P. Bray-Ward, S. Taviaux, J. Wirth, G. Valle, M. Ehrlich, T. Muraro, R.A. Gravel, N.J. Lench, F. Yang, R. Zimbello, J.A. Peppers, E. Chevret, I. Garkavtsev, B. Horsthemke, F. Coulier, C. Pressman, X.X. Zhang, T.B. Nesterova, A-S. Verdier, A.A. Isaenko, S. Mori, S. Levanat, K. Riabowol, A. Sahota, G. Lefort, D. Demetrick, M-G. Matté, P.C.M. O’Brien, E.H. Hoffman, J.L VandeBerg, V.T.K. Chow, J. Cozzi, R. Planells, J. Wienberg, I. Parra, H. Satoh, K. Sperling, K. Buiting, K.L. Stoddart, A. León-Del-Rio, J. Weissenbach, A.E. Bale, M.R. Gailani, H.-J. Lüdecke, J.A. Tischfield, N.V. Vorobieva, P.S. Meltzer, G. Scherer, M-G. Mattéi, B. Windle, E.J. Taparowsky, A. Chidambaram, G. Lanfranch, H. Leffers, J.P. Leek, A.S. Hewson, R. Toftgard, E. Back, N. Tiso, M.L. Kennedy, G.A. Danieli, M. Varela, M.R. Martorell, T. Wagner, R. Anwar, P.K. Gupta, C. Shao, F. Pellestor, K.M. Boycott, E.H. McConkey, C. Márquez, J.C. Myers, B.J. Moore, I. Nanda, M. Monteil, J. Egozcue, N.M. Matveeva, P.K. Kennedy, M.A. Ferguson-Smith, B. Roland, R. Pelletier

المصدر: Cytogenetic and Genome Research. 76:I-IV

مصطلحات موضوعية: Botany, Genetics, Zoology, Biology, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::36ba6962db72245588b61c273f0c1732
https://doi.org/10.1159/000134527

المؤلفون: R.P.M. van Gijlswijk, B. Horsthemke, K. Buiting, Y. Nobukuni, P.M.A. Groenen, J.-E. Ikeda, L. Sánchez, J.A. Tischfield, N.C. Stowell, J. Castro, P.M. Kroisel, E.H. Goodwin, M. Zanetti, S.M. Jhiang, C.M. Kammerer, M.N. Cornforth, A. Viñas, T.S. McConnell, C. Shao, S. Kajigaya, A.A. Perelygin, A. Besner-Johnston, R.G. Korneluk, J.P. Fryns, K. Devriendt, J.F. Cheng, C. Lefebvre, Q. Tong, P. Martínez, N. Iwata, Q. Duh, W.J.M. Van de Ven, B. Castiglioni, A. Sahota, A. Watanabe, B. O’Brien, O.H. Clark, J. Rogers, B. Ploplis, E. Rajcan-Separovic, A.J.M. Roebroek, A. MacKenzie, R. Thoelen, Constantinos Deltas, G.H. Jossart, L. Ferretti, J. Wiegant, S.M. Bailey, J.-W.H.P. van de Loo, P.C. Patsalis, A.D. Roses, J.W.M. Creemers, S. Munné, S. Kaya-Westerloh, P.A. loannou, H.-U.G. Weier, Y. Sun, E.F.P.M. Schoenmakers, M. Tachibana, P.K. Gupta, M. Aly, A.K. Raap, R. Vervenne, J. Meyne, K. Kas, M. Hadjimarcou, H.J. Tanke, M. Scocchi, E. Garcia, J.E. Lee, M.S. Mahadevan, R. Lasan, E. Bashiardes

المصدر: Cytogenetic and Genome Research. 75:I-IV

مصطلحات موضوعية: Botany, Genetics, Biology, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0c4a7f88d96c136c08859ec5a1b0fe1f
https://doi.org/10.1159/000134483

المؤلفون: S Dammann, D Gläser, I Löttrich, A Artlich, K Buiting

المصدر: Klinische Pädiatrie. 223

مصطلحات موضوعية: Chemistry, Pediatrics, Perinatology and Child Health, Imprinting (psychology), Molecular biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fd8621d2e130d2d3162f9c2fc442249f
https://doi.org/10.1055/s-0031-1273925

المؤلفون: J Bode, A K Prashanth, Dietmar R. Lohmann, P Albrecht, K Buiting

المصدر: Journal of medical genetics. 41(12)

مصطلحات موضوعية: Male, medicine.medical_specialty, Interspersed repeat, DNA Mutational Analysis, Molecular Sequence Data, Biology, Electronic Letter, Polymerase Chain Reaction, DNA sequencing, law.invention, chemistry.chemical_compound, Exon, law, Molecular genetics, Genetics, medicine, Humans, Genes, Retinoblastoma, Genetics (clinical), Polymerase chain reaction, Recombination, Genetic, Base Sequence, Point mutation, Chromosome Mapping, Interspersed Repetitive Sequences, DNA, Exons, Molecular biology, Pedigree, chemistry, Female, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7795213906c53b284597279d311b0fde
https://pubmed.ncbi.nlm.nih.gov/15591264

المؤلفون: C, Windpassinger, E, Petek, K, Wagner, A, Langmann, K, Buiting, P M, Kroisel

المصدر: Clinical genetics. 63(4)

مصطلحات موضوعية: Male, Chromosomes, Human, Pair 15, Child, Preschool, Karyotyping, Vision Disorders, Chromosome Mapping, Humans, Chromosomes, Artificial, Yeast, Prader-Willi Syndrome, Gene Deletion, In Situ Hybridization, Fluorescence, Translocation, Genetic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::f5bd4cdd63188e01d3aaefd9f5b030a2
https://pubmed.ncbi.nlm.nih.gov/12702163

المؤلفون: K, Buiting, C, Färber, P, Kroisel, K, Wagner, L, Brueton, M E, Robertson, C, Lich, B, Horsthemke

المصدر: Clinical genetics. 58(4)

مصطلحات موضوعية: Family Health, Male, Chromosomes, Human, Pair 15, Models, Genetic, DNA Mutational Analysis, Genetic Counseling, DNA Methylation, Polymerase Chain Reaction, Chromosome Banding, Pedigree, Blotting, Southern, Genomic Imprinting, Risk Factors, Child, Preschool, Karyotyping, Humans, Female, Child, Prader-Willi Syndrome, Alleles, Gene Deletion, Germ-Line Mutation, In Situ Hybridization, Fluorescence

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::2c9ecf2e8ffeb6a56c3481d1f51c3d6f
https://pubmed.ncbi.nlm.nih.gov/11076053

المؤلفون: J.-M. Elalouf, J.R. Mann, S.C. Barton, A.S. Garfield, C. Rasberry, K. Okumura, M.S. Gross, T. Yokomine, Barbara Hutter, C.M. Williamson, A. Ogura, Timothy Bestor, M. Kimura, C. Gallou-Kabani, S. Khosla, G. Cathala, C. Jacquet, P. Stanier, Y. Hayashizaki, H. Soejima, P. Hajkova, J.P. Jais, W. Mills, A. Ward, C. Junien, F. Ishino, R. Ono, N. Wake, C. Ciaudo, G. Mendiratta, J.R. Chaillet, S. Abu-Amero, N. Maeda, T.H. Vu, A. Fabre, L. Estabrooks, L. Steele, C. Shuman, R. Nasser, Y. Sekita, H. Seitz, Colin V. Beechey, M. Irie, Kenichiro Hata, A.C. Smith, M. Tsudzuki, T. Ochiya, T. Kaneko-Ishino, David Monk, Paul D. Soloway, T. Rubin, M.-L. Bortolin, I. Hatada, B. Horsthemke, A. Gossler, N. Miyoshi, R.L. Jirtle, L. Dandolo, N. Aptel, T. Ohhata, M. Tevendale, A. Paoloni-Giacobino, T. Ito, H. Sasaki, B. Cattanach, T. Saito, Yuko Hoki, L. Milligan, D. Haig, B. Tycko, Anne C. Ferguson-Smith, M. Yokoyama, T. Mukai, Takashi Sado, Gavin Kelsey, P.A. Latos, L. Han, T. Forné, A.S. Aylsworth, P.E. Szabó, M.A. Surani, T. Kono, L. Zakin, Jörn Walter, T. Abe, J. Hyo-Jung, G.E. Moore, A. Bourdet, M. Fukasawa, K. Buiting, B.M. Cattanach, Takahiro Arima, M. Spielman, K. Okamura, A. Vigé, J. Cavaillé, T. Kishino, R. Shemer, Tarang Khare, K. Regha, A. Razin, W. Reik, M. Watkins, Robert Feil, K. Higashimoto, E. Heard, A.R. Hoffman, K. Schuster-Gossler, M.T. McDonald, T. Horii, S. Kobayashi, I. Okamoto, Gary F. Moore, R.A. Drewell, Marisa S. Bartolomei, Michael Weber, S. Apostolidou, H. Kobayashi, F.M. Smith, C. Rusniok, M.-A. Ripoche, M. Kaneda, R. Weksberg, S. Morita, H. Wagatsuma, Thomas A. Moore, A. Plagge, P.N. Ray, T. Ikemura, Jo Peters, V. Brahmachari, P. Avner, K.J. Reese, H. Hagège, H. Royo, J. Weissenbach, J. Matsuda, L. Spahn, D. Solter, R.J. Scott, Martina Paulsen, B. Kantor, Y. Kohara, Déborah Bourc'his, C. Suda, A. Gabory, Rebecca J. Holmes, A. Lewis, T. Kohda, Alexandre Wagschal, T. Yoshimizu

المصدر: Cytogenetic and Genome Research. 113:351-352

مصطلحات موضوعية: Botany, Genetics, Zoology, Biology, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::88681cc1ff9e0d666b54a4a4f3ee5c48
https://doi.org/10.1159/000092443

المؤلفون: S, Saitoh, K, Buiting, S B, Cassidy, J M, Conroy, D J, Driscoll, J M, Gabriel, G, Gillessen-Kaesbach, C C, Glenn, L R, Greenswag, B, Horsthemke, I, Kondo, K, Kuwajima, N, Niikawa, P K, Rogan, S, Schwartz, J, Seip, C A, Williams, R D, Nicholls

المصدر: American journal of medical genetics. 68(2)

مصطلحات موضوعية: Adult, Male, Autoantigens, snRNP Core Proteins, Patient Education as Topic, Leukocytes, Humans, Child, Sequence Deletion, Hypopigmentation, Chromosomes, Human, Pair 15, Chromosome Mapping, Nucleic Acid Hybridization, Zinc Fingers, DNA, Exons, DNA Methylation, Ribonucleoproteins, Small Nuclear, Pedigree, Child, Preschool, Mutation, Microcephaly, Female, Angelman Syndrome, Prader-Willi Syndrome, Polymorphism, Restriction Fragment Length, Microsatellite Repeats

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::72a83f00685e40fb708fa95ea7fcd996
https://pubmed.ncbi.nlm.nih.gov/9028458

المؤلفون: B, Horsthemke, B, Dittrich, K, Buiting

المصدر: Human mutation. 10(5)

مصطلحات موضوعية: Male, Chromosomes, Human, Pair 15, Genomic Imprinting, Mutation, Humans, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5e3a00d2dbe1bbfd6f6204965a5af48a
https://pubmed.ncbi.nlm.nih.gov/9375847

المؤلفون: Bernhard Horsthemke, K Buiting, S Kaya-Westerloh

المصدر: Cytogenetics and cell genetics. 75(4)

مصطلحات موضوعية: Ribosomal Proteins, Pseudogene, Molecular Sequence Data, Sequence alignment, Biology, Autoantigens, snRNP Core Proteins, Ribosomal protein L5, Chromosome 15, Ribosomal protein, Sequence Homology, Nucleic Acid, Genetics, Direct repeat, Humans, education, Molecular Biology, Genetics (clinical), education.field_of_study, Chromosomes, Human, Pair 15, SnRNP Core Proteins, Base Sequence, Intron, Chromosome Mapping, Ribonucleoproteins, Small Nuclear, Molecular biology, Prader-Willi Syndrome, Sequence Alignment, Pseudogenes

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4b864d2d69897e62b7f57ffd1e488bf
https://pubmed.ncbi.nlm.nih.gov/9067429

المؤلفون: K. Buiting, C. Lich, S. Cottrell, A. Barnicoat, B. Horsthemke

المصدر: Human Genetics. 105:665-666

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::414a3a6f9e26f85e376c0fac85529eee
https://doi.org/10.1007/s004390051160

المؤلفون: M.R. Martorell, J.M. Trent, D. Stephan, M. Dean, M.B. Qumsiyeh, H. Lovec, T. Muraro, B. Horsthemke, J.L VandeBerg, J. Wirth, C. Shao, A.G. Shilov, A. Girardet, B. Sèle, J. Torresani, U. Claussen, N.B. Rubtsov, F. Coulier, S.M. Zakian, S. Taviaux, N.T. Bech-Hansen, M.H. Dreyling, M.A. Ferguson-Smith, P.S. Meltzer, O.I. Olopade, P. Eydoux, J. Benet, S. Levanat, G. Scherer, X.X. Zhang, M. Goldfarb, M-G. Mattéi, N. Tommerup, J.A. Peppers, B. Windle, T.P. Moynihan, N.V. Rubtsova, W. Jiang, X.-Y. Zhang, M. Schmid, H. Leffers, H.S. Tenenhouse, T.B. Nesterova, M. Ehrlich, P.K. Gupta, P. Mühlig, H.H. Quek, C. Wicking, Y. Zhu, D. Adrian, J.P. Grillasca, G. Lefort, E. Back, H.-J. Lüdecke, J. Zimmer, N.V. Vorobieva, N. Tiso, I. Nanda, M. Monteil, J.L. Coate, R. Zimbello, I. Garkavtsev, C. Pressman, J.P. Leek, A.S. Hewson, I. Parra, S. Rousseaux, J.P. Charlieu, R. Hernandez, A.E. Bale, E.H. Hoffman, B. Andréo, A.F. Markham, V.T.K. Chow, E.J. Taparowsky, K.L. Stoddart, M.L. Kennedy, A-S. Verdier, A. Sahota, G.J. Pappanicolaou, B. Wainwright, H. Satoh, K. Buiting, S.K. Bohlander, P.C.M. O’Brien, A. Frady, M.A. Peters, M.R. Gailani, T. Wagner, D.T. Bonthron, A. León-Del-Rio, F. Yang, A. Chidambaram, G. Lanfranch, H. Hartung, K.J. Gratton, B.G. Beatty, P. Bray-Ward, D. Demetrick, M-G. Matté, J.A. Tischfield, D.R. Lohmann, R.A. Gravel, G. Valle, A.A. Isaenko, S. Mori, J. Wienberg, J. Navarro, R. Hliscs, D. Birnbaum, N.Z. Parsa, C. Flores, M. Gastaldi, J. Egozcue, N.M. Matveeva, P.K. Kennedy, B. Roland, R. Pelletier, C. Márquez, J.C. Myers, B.J. Moore, G.A. Danieli, F. Pellestor, N.J. Lench, K. Riabowol, K. Sperling, J. Weissenbach, M. Varela, R. Toftgard, R. Anwar, E. Chevret, J. Cozzi, R. Planells, K.M. Boycott, E.H. McConkey

المصدر: Cytogenetic and Genome Research. 76:235-236

مصطلحات موضوعية: Index (economics), Statistics, Genetics, Subject (documents), Biology, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::626d31628696efc98b6b5123d4eb96a5
https://doi.org/10.1159/000134558

المؤلفون: T.S. McConnell, E. Bashiardes, A.K. Raap, R. Vervenne, R.P.M. van Gijlswijk, J. Castro, E.H. Goodwin, M. Zanetti, C.M. Kammerer, M.N. Cornforth, K. Devriendt, R. Thoelen, C. Shao, C. Lefebvre, M. Tachibana, S. Kajigaya, S. Munné, J. Meyne, B. Horsthemke, R. Lasan, K. Kas, P. Martínez, N.C. Stowell, P.K. Gupta, A. Watanabe, A. Viñas, K. Buiting, Constantinos Deltas, E.F.P.M. Schoenmakers, A. MacKenzie, J. Rogers, J.A. Tischfield, M.S. Mahadevan, J. Wiegant, M. Aly, L. Ferretti, S.M. Bailey, L. Sánchez, S.M. Jhiang, A. Besner-Johnston, S. Kaya-Westerloh, J.-W.H.P. van de Loo, Y. Nobukuni, P.M.A. Groenen, J.-E. Ikeda, N. Iwata, Q. Tong, J.P. Fryns, R.G. Korneluk, W.J.M. Van de Ven, J.W.M. Creemers, B. Castiglioni, Y. Sun, J.F. Cheng, H.J. Tanke, P.C. Patsalis, A.D. Roses, A.A. Perelygin, Q. Duh, B. Ploplis, A.J.M. Roebroek, P.M. Kroisel, M. Hadjimarcou, O.H. Clark, G.H. Jossart, B. O’Brien, P.A. loannou, A. Sahota, E. Rajcan-Separovic, H.-U.G. Weier, M. Scocchi, E. Garcia, J.E. Lee

المصدر: Cytogenetic and Genome Research. 75:273-274

مصطلحات موضوعية: Index (economics), Statistics, Genetics, Subject (documents), Biology, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4bb6491e799fdb61d077112473df8d0e
https://doi.org/10.1159/000134499

المؤلفون: Elmar Wahle, B. Horsthemke, Christof G. Körner, B. Ulrich, K. Buiting

المصدر: Europe PubMed Central

مصطلحات موضوعية: Exonuclease, Male, Sequence analysis, Molecular Sequence Data, Hybrid Cells, medicine.disease_cause, Angelman syndrome, Happy puppet syndrome, Genetics, medicine, Humans, Ribonuclease, Lymphocytes, RNA, Messenger, Molecular Biology, Gene, 3' Untranslated Regions, Chromosomes, Artificial, Yeast, Genetics (clinical), Alleles, In Situ Hybridization, Fluorescence, Sequence Deletion, Mutation, Messenger RNA, Chromosomes, Human, Pair 15, biology, Base Sequence, Reverse Transcriptase Polymerase Chain Reaction, Gene Expression Profiling, Chromosome Breakage, medicine.disease, Physical Chromosome Mapping, Molecular biology, Blotting, Southern, Multigene Family, Exoribonucleases, biology.protein, Female, Prader-Willi Syndrome, Chromosomes, Human, Pair 16

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eea881cf1aa358caef21517d14655854
http://europepmc.org/abstract/med/10640832

المؤلفون: S. Spetalen, K. Kierulf, K. Buiting, Karen Helene Ørstavik, Kristin Eiklid, C.B. van der Hagen, O. Skjeldal

المصدر: The American Journal of Human Genetics. (1):218-219

مصطلحات موضوعية: Gynecology, medicine.medical_specialty, Pregnancy, In vitro fertilisation, SnRNP Core Proteins, medicine.medical_treatment, Biology, medicine.disease, Intracytoplasmic sperm injection, Male infertility, Endocrinology, Angelman syndrome, Internal medicine, Happy puppet syndrome, Genetics, medicine, Genetics(clinical), Genomic imprinting, Letter to the Editor, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12fd708f5c4fee226d650f20ea273171