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المؤلفون: David Francis, Yves Sznajer, Lieve Vanwalleghem, Jennifer Kussmann, David A. Bateman, Gael E. Phillips, Scott A. Anderson, Elizabeth K. Fiorino, Przemyslaw Szafranski, Kamilla Schlade-Bartusiak, Neil J. Sebire, Pablo Lapunzina, Maya Chopra, Urvashi Surti, Isabelle Maystadt, Oliver Quarrell, Partha Sen, Jill Slamon, Avinash V. Dharmadhikari, Philippe Moerman, Liesbeth Spruijt, Dick Tibboel, Susan Arbuckle, Glenda Hendson, Jennifer Schuette, Nicole de Leeuw, Melissa Lees, Namasivayam Ambalavanan, Annelies de Klein, Svetlana A. Yatsenko, Joel Reiter, Joseph T. Shieh, Sandra Janssens, Gregory Peters, Jessica Sebastian, David R. Kelly, Eitan Kerem, Janet Lioy, Martina Owens, Gary Tsz Kin Mok, Carlos A. Bacino, Amy S. Lay, Shalini N. Jhangiani, Suneeta Madan-Khetarpal, Björn Menten, Elizabeth Roeder, Kadir C. Akdemir, Denise A. Hayes, Laurie A. Steiner, Taryn C. Rosenthal, Richard Sayers, Fernando Santos-Simarro, Ashley Wilson, Joyce E. Fox, Yoyo W. Y. Chu, Richard Fisher, Rebecca O. Littlejohn, Daynna J. Wolff, Wai Lap Wong, Timothy Thiruchelvam, Kristin Scheible, Zoe Mead, Eileen McKay, M. Anwar Iqbal, Erwin Brosens, Melinda H. Markham, Julián Nevado, Anne Loccufier, Rosanna G. Abellar, Tomasz Gambin, Charles Shaw-Smith, Alison Yeung, Pawel Stankiewicz, Nihal Godiwala, Elfride De Baere, Ilse Feenstra, Diane J. Payton, Girvan Malcolm, María Palomares, Morris Edelman, Claire Langston, Thomas S. DeNapoli, Margaret L. McKinnon, Carol L. Wagner, Brian H.Y. Chung, James R. Lupski, Dawn English, Alison Male, Edwina J. Popek, Frances Elmslie, Jasneek Chawla, Sara Jane Hamilton, Jason Pinner
المساهمون: Clinical Genetics, Pediatric Surgery
المصدر: Human Genetics, 135, 5, pp. 569-86
Human Genetics, 135(5), 569-586. Springer-Verlag
Human Genetics, 135, 569-86
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madridمصطلحات موضوعية: 0301 basic medicine, Alveolar capillary dysplasia, Male, Locus (genetics), Biology, Persistent Fetal Circulation Syndrome, Article, 03 medical and health sciences, symbols.namesake, Genomic Imprinting, 0302 clinical medicine, Chromosome 16, Genetics, medicine, Humans, Copy-number variation, Genetics (clinical), Exome sequencing, Sequence Deletion, Sanger sequencing, Comparative Genomic Hybridization, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genome, Human, Infant, Newborn, High-Throughput Nucleotide Sequencing, Forkhead Transcription Factors, medicine.disease, Molecular biology, Uniparental disomy, Pedigree, Pulmonary Alveoli, 030104 developmental biology, Pulmonary Veins, 030220 oncology & carcinogenesis, symbols, Female, Genes, Lethal, Genomic imprinting, Chromosomes, Human, Pair 16, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::940199cff9fdefb150d9d6b25e41e0daTest
https://doi.org/10.1007/s00439-016-1655-9Test -
2دورية أكاديمية
المؤلفون: Freson, Kathleen, Thys, Chantal, Vermylen, Jozef, Wittewrongel, Christine, Hoylaerts, Marc, Van Geet, Christel
مصطلحات موضوعية: Amino Acid Substitution, Animals, Blood Platelets, CHO Cells, Carrier Proteins, Cell Line, Chromosomes, Human, Pair 16, Cloning, Molecular, Conserved Sequence, Cricetinae, DNA-Binding Proteins, Erythrocytes, Erythroid-Specific DNA-Binding Factors, GATA1 Transcription Factor, Humans, K562 Cells, Mice, Molecular Sequence Data, Nuclear Proteins, Sequence Alignment, Sequence Homology, Amino Acid, Transcription Factors, Zinc Fingers
العلاقة: Human Genetics vol:112 issue:1 pages:42-9; https://lirias.kuleuven.be/handle/123456789/210816Test; http://dx.doi.org/10.1007/s00439-002-0832-1Test
الإتاحة: https://doi.org/10.1007/s00439-002-0832-1Test
https://lirias.kuleuven.be/handle/123456789/210816Test -
3دورية أكاديمية
المؤلفون: Settasatian, C., Whitmore, S., Crawford, J., Bilton, R., Cleton-Jansen, A.M., Sutherland, G., Callen, D.
مصطلحات موضوعية: Chromosomes, Human, Pair 16, Humans, Spastic Paraplegia, Hereditary, Metalloendopeptidases, Blotting, Northern, Sequence Analysis, DNA, Alternative Splicing, Base Sequence, Tissue Distribution, Polymorphism, Genetic, Single-Stranded Conformational, Cosmids, Introns, Exons, Models, Molecular Sequence Data, ATPases Associated with Diverse Cellular Activities
العلاقة: Human Genetics, 1999; 105(1-2):139-144; http://hdl.handle.net/2440/11461Test; Callen, D. [0000-0002-6189-9991]
الإتاحة: https://doi.org/10.1007/s004399900087Test
https://doi.org/10.1007/s004390051076Test
http://hdl.handle.net/2440/11461Test