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1دورية أكاديمية
المؤلفون: R. Koster, R. D. Brandão, D. Tserpelis, C. E. P. van Roozendaal, C. N. van Oosterhoud, K. B. M. Claes, A. D. C. Paulussen, M. Sinnema, M. Vreeburg, V. van der Schoot, C. T. R. M. Stumpel, M. P. G. Broen, L. Spruijt, M. C. J. Jongmans, S. A. J. Lesnik Oberstein, A. S. Plomp, M. Misra-Isrie, F. A. Duijkers, M. J. Louwers, R. Szklarczyk, K. W. J. Derks, H. G. Brunner, A. van den Wijngaard, M. van Geel, M. J. Blok
المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2056-7944Test
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2دورية أكاديمية
المؤلفون: Cansu de Muijnck, Mary J. van Schooneveld, Astrid S. Plomp, Richard J. Rodenburg, Maria M. van Genderen, Camiel J.F. Boon
المصدر: American Journal of Ophthalmology Case Reports, Vol 34, Iss , Pp 102070- (2024)
مصطلحات موضوعية: MT-ATP6, Leber's hereditary optic neuropathy, Optic atrophy, Ophthalmology, RE1-994
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S245199362400080XTest; https://doaj.org/toc/2451-9936Test
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3دورية أكاديمية
المؤلفون: Xuan-Thanh-An Nguyen, Lude Moekotte, Astrid S. Plomp, Arthur A. Bergen, Maria M. van Genderen, Camiel J. F. Boon
المصدر: International Journal of Molecular Sciences; Volume 24; Issue 8; Pages: 7481
مصطلحات موضوعية: retinitis pigmentosa, clinical management, genetics, genetic counseling, gene therapy, low vision, low-vision rehabilitation
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms24087481Test
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4دورية أكاديمية
المؤلفون: Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A. Hilton, Zandra Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela T. Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Ruiz Pallares, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos-Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin-Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Vergano, Niels Vos, Kellie K. Walden, Dimitar Azmanov, Tugce Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym Boycott, Nicola Brunetti-Pierri, Philippe M. Campeau, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman-Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic
المصدر: HGG Advances, Vol 3, Iss 1, Pp 100075- (2022)
مصطلحات موضوعية: Episignatures, Neurodevelopmental disorders, DNA methylation, Epigenetics, Clinical diagnostics, Genetics, QH426-470
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247721000567Test; https://doaj.org/toc/2666-2477Test; https://doaj.org/article/625f01b427784d528fd75cff511b4125Test
الإتاحة: https://doi.org/10.1016/j.xhgg.2021.100075Test
https://doaj.org/article/625f01b427784d528fd75cff511b4125Test -
5دورية أكاديمية
المؤلفون: Janine Reurink, Adrian Dockery, Dominika Oziębło, G. Jane Farrar, Monika Ołdak, Jacoline B. ten Brink, Arthur A. Bergen, Tuula Rinne, Helger G. Yntema, Ronald J. E. Pennings, L. Ingeborgh van den Born, Marco Aben, Jaap Oostrik, Hanka Venselaar, Astrid S. Plomp, M. Imran Khan, Erwin van Wijk, Frans P. M. Cremers, Susanne Roosing, Hannie Kremer
المصدر: International Journal of Molecular Sciences; Volume 22; Issue 12; Pages: 6419
مصطلحات موضوعية: USH2A, Usher syndrome type IIa, retinitis pigmentosa, molecular inversion probes (MIPs)
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms22126419Test
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6دورية أكاديمية
المؤلفون: Carline E. Tacke, Suzanne W.J. Terheggen-Lagro, Annemieke M. Boot, Astrid S. Plomp, Abeltje M. Polstra, Rick R. van Rijn, Peter A.A. Struijs, Henk van den Berg, Christiaan F. Mooij
المصدر: Bone Reports, Vol 14, Iss , Pp 101067- (2021)
مصطلحات موضوعية: Parathyroid hormone-like hormone, PTHLH, Chondrodysplasia, Enchondroma, Diseases of the musculoskeletal system, RC925-935
العلاقة: http://www.sciencedirect.com/science/article/pii/S2352187221003223Test; https://doaj.org/toc/2352-1872Test; https://doaj.org/article/3749f311958f467e93bc691352c406e1Test
الإتاحة: https://doi.org/10.1016/j.bonr.2021.101067Test
https://doaj.org/article/3749f311958f467e93bc691352c406e1Test -
7
المؤلفون: Xuan-Thanh-An Nguyen, Lude Moekotte, Astrid S. Plomp, Arthur A. Bergen, Maria M. van Genderen, Camiel J. F. Boon
المصدر: Nguyen, X-T-A, Moekotte, L, Plomp, A S, Bergen, A A, van Genderen, M M & Boon, C J F 2023, ' Retinitis Pigmentosa : Current Clinical Management and Emerging Therapies ', International Journal of Molecular Sciences, vol. 24, no. 8, 7481 . https://doi.org/10.3390/ijms24087481Test
مصطلحات موضوعية: low-vision rehabilitation, genetic counseling, Organic Chemistry, General Medicine, gene therapy, low vision, Catalysis, Computer Science Applications, Inorganic Chemistry, retinitis pigmentosa, clinical management, genetics, Physical and Theoretical Chemistry, Molecular Biology, Spectroscopy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a136a1c38147b90fd2720d0661cfc107Test
https://doi.org/10.3390/ijms24087481Test -
8
المؤلفون: Yousra El Ghaleb, Monica L. Fernandez-Quintero, Marta Campiglio, Klaus R. Liedl, Astrid S. Plomp, Dewi P. Bakker, Mahdi M. Motazacker, Fanny Kortüm, Anne-Sophie Höing, Kerstin Kutsche, Bernhard E. Flucher
المساهمون: Amsterdam Reproduction & Development (AR&D), Pediatrics, Amsterdam Neuroscience - Neuroinfection & -inflammation, Human Genetics, ANS - Complex Trait Genetics
المصدر: Biophysical Journal, 122(3S1). Biophysical Society
el Ghaleb, Y, Fernandez-Quintero, M L, Campiglio, M, Liedl, K R, Plomp, A S, Bakker, D P, Motazacker, M M, Kortüm, F, Höing, A-S, Kutsche, K & Flucher, B E 2023, ' Two newly identified CACNA1I variants linked to neurodevelopmental disorder and epilepsy differentially affect Cav3.3 gating properties ', Biophysical Journal, vol. 122, no. 3S1, pp. 107a . https://doi.org/10.1016/j.bpj.2022.11.763Test
Biophysical journal, 122(3S1). Biophysical Societyمصطلحات موضوعية: Biophysics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0785867673a134b4c881761afe727185Test
https://doi.org/10.1016/j.bpj.2022.11.763Test -
9دورية أكاديمية
المؤلفون: Luc Cozijnsen, Astrid S. Plomp, Jan G. Post, Gerard Pals, Natalija Bogunovic, Kak K. Yeung, Hans W. M. Niessen, Marie‐José T. H. Goumans, Daniela Q. C. M. Barge‐Schaapveld, Dimitra Micha
المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)
مصطلحات موضوعية: Loeys–Dietz syndrome, Myogenic transdifferentiation of fibroblasts, Smooth muscle‐like cells, TGFBR1 mutation, Thoracic aortic aneurysm and aortic dissection, Genetics, QH426-470
العلاقة: https://doi.org/10.1002/mgg3.943Test; https://doaj.org/toc/2324-9269Test; https://doaj.org/article/927adda4807d40978d49bc3bb1b09e32Test
الإتاحة: https://doi.org/10.1002/mgg3.943Test
https://doaj.org/article/927adda4807d40978d49bc3bb1b09e32Test -
10
المؤلفون: Michael A. Levy, Raissa Relator, Haley McConkey, Erinija Pranckeviciene, Jennifer Kerkhof, Mouna Barat‐Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Marco Ferilli, Robin S. Fletcher, Florian Cherick, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A. Hilton, Zandra Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela T. Morgan, Renske Oegema, Elsebet Østergaard, Nathalie R. Pallares, Maria Piccione, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W. E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella M. Squeo, Miya St John, Christel Thauvin‐Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Vergano, Niels Vos, Kellie K. Walden, Dimitar Azmanov, Tugce B. Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A. Lee, Marcel M. A. M. Mannens, Tony Roscioli, Victoria Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym Boycott, Nicola Brunetti‐Pierri, Philippe M. Campeau, Dominique Campion, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Delphine Heron, Thomas Husson, Kristin D. Kernohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman‐Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Marie Vincent, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic
المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D), Pediatrics, Levy M.A., Relator R., McConkey H., Pranckeviciene E., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Palomares Bralo M., Cappuccio G., Ciolfi A., Clarke A., DuPont B.R., Elting M.W., Faivre L., Fee T., Ferilli M., Fletcher R.S., Cherick F., Foroutan A., Friez M.J., Gervasini C., Haghshenas S., Hilton B.A., Jenkins Z., Kaur S., Lewis S., Louie R.J., Maitz S., Milani D., Morgan A.T., Oegema R., Ostergaard E., Pallares N.R., Piccione M., Plomp A.S., Poulton C., Reilly J., Rius R., Robertson S., Rooney K., Rousseau J., Santen G.W.E., Santos-Simarro F., Schijns J., Squeo G.M., John M.S., Thauvin-Robinet C., Traficante G., van der Sluijs P.J., Vergano S.A., Vos N., Walden K.K., Azmanov D., Balci T.B., Banka S., Gecz J., Henneman P., Lee J.A., Mannens M.M.A.M., Roscioli T., Siu V., Amor D.J., Baynam G., Bend E.G., Boycott K., Brunetti-Pierri N., Campeau P.M., Campion D., Christodoulou J., Dyment D., Esber N., Fahrner J.A., Fleming M.D., Genevieve D., Heron D., Husson T., Kernohan K.D., McNeill A., Menke L.A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S.A., Stevenson R.E., Vincent M., Vitobello A., Tartaglia M., Alders M., Tedder M.L., Sadikovic B., Levy, Michael A, Relator, Raissa, Mcconkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Bralo, María Palomare, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angu, Dupont, Barbara R, Elting, Mariet W, Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S, Cherick, Florian, Foroutan, Aidin, Friez, Michael J, Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A, Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J, Maitz, Silvia, Milani, Donatella, Morgan, Angela T, Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Plomp, Astrid S, Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W E, Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, John, Miya St, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J, Vergano, Samantha A, Vos, Niel, Walden, Kellie K, Azmanov, Dimitar, Balci, Tugce B, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A, Mannens, Marcel M A M, Roscioli, Tony, Siu, Victoria, Amor, David J, Baynam, Gareth, Bend, Eric G, Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M, Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A, Fleming, Mark D, Genevieve, David, Heron, Delphine, Husson, Thoma, Kernohan, Kristin D, Mcneill, Alisdair, Menke, Leonie A, Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charle, Skinner, Steven A, Stevenson, Roger E, Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L, Sadikovic, Bekim, Human Genetics, General Paediatrics, Graduate School, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development, ANS - Cellular & Molecular Mechanisms, ANS - Complex Trait Genetics, ACS - Pulmonary hypertension & thrombosis
المصدر: Human Mutation, 43(11), 1609-1628. Wiley-Liss Inc.
Human Mutation: Variation, Informatics and Disease, 43(11), 1609-1628. WILEY
Human mutation, 43(11), 1609-1628. Wiley-Liss Inc.
Levy, M A, Relator, R, McConkey, H, Pranckeviciene, E, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Palomares Bralo, M, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, B R, Elting, M W, Faivre, L, Fee, T, Ferilli, M, Fletcher, R S, Cherick, F, Foroutan, A, Friez, M J, Gervasini, C, Haghshenas, S, Hilton, B A, Jenkins, Z, Kaur, S, Lewis, S, Louie, R J, Maitz, S, Milani, D, Morgan, A T, Oegema, R, Østergaard, E, Pallares, N R, Piccione, M, Plomp, A S, Poulton, C, Reilly, J, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, G W E, Santos-Simarro, F, Schijns, J, Squeo, G M, John, M S, Thauvin-Robinet, C, Traficante, G, van der Sluijs, P J, Vergano, S A, Vos, N, Walden, K K, Azmanov, D, Balci, T B, Banka, S, Gecz, J, Henneman, P, Lee, J A, Mannens, M M A M, Roscioli, T, Siu, V, Amor, D J, Baynam, G, Bend, E G, Boycott, K, Brunetti-Pierri, N, Campeau, P M, Campion, D, Christodoulou, J, Dyment, D, Esber, N, Fahrner, J A, Fleming, M D, Genevieve, D, Heron, D, Husson, T, Kernohan, K D, McNeill, A, Menke, L A, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, S A, Stevenson, R E, Vincent, M, Vitobello, A, Tartaglia, M, Alders, M, Tedder, M L & Sadikovic, B 2022, ' Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders ', Human Mutation, vol. 43, no. 11, pp. 1609-1628 . https://doi.org/10.1002/humu.24446Testمصطلحات موضوعية: DNA methylation, clinical diagnostics, Syndrome, DNA methylation, clinical diagnostics, episignatures, neurodevelopmental syndromes, neurodevelopmental syndromes, Epigenesis, Genetic, Neurodevelopmental Disorders, Genetics, Humans, CpG Islands, DNA, Intergenic, episignatures, Episignature, Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaa933745b4435f831f0ab98620d9364Test
https://research.vumc.nl/en/publications/13d0dd51-76a9-4868-ac6b-44bb728ad6bfTest