المؤلفون: Holt, RJ, Young, RM, Crespo, B, Ceroni, F, Curry, CJ, Bellacchio, E, Bax, DA, Ciolfi, A, Simon, M, Fagerberg, CR, van Binsbergen, E, De Luca, A, Memo, L, Dobyns, WB, Mohammed, AA, Clokie, SJH, Zazo Seco, C, Jiang, Y-H, Sørensen, KP, Andersen, H, Sullivan, J, Powis, Z, Chassevent, A, Smith-Hicks, C, Petrovski, S, Antoniadi, T, Shashi, V, Gelb, BD, Wilson, SW, Gerrelli, D, Tartaglia, M, Chassaing, N, Calvas, P, Ragge, NK

المصدر: AJHG , 105 (3) pp. 640-657. (2019)

مصطلحات موضوعية: FBXW11, Noonan syndrome, WD40, Wnt, brain, development, digit, eye, hedgehog, neurodevelopment

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10080239/1/mmc3.pdf; https://discovery.ucl.ac.uk/id/eprint/10080239/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10080239/1/mmc3.pdf
https://discovery.ucl.ac.uk/id/eprint/10080239/

المؤلفون: Zazo Seco, C. (Celia), Serrão De Castro, L. (Luciana), Nierop, J.W.I. van, Morín, M. (Matías), Jhangiani, S.N. (Shalini N.), Verver, E.J.J. (Eva J. J.), Schraders, M. (Margit), Maiwald, N. (Nadine), Wesdorp, M. (Mieke), Venselaar, H. (Hanka), Spruijt, L. (Liesbeth), Oostrik, J. (Jaap), Schoots, J. (Jeroen), Reeuwijk, J. (Jeroen) van, Lelieveld, S.H. (Stefan H.), Huygen, P.L.M. (Patrick), Insenser, M. (María), Admiraal, R.J. (Ronald), Pennings, R.J.E. (Ronald J.E.), Hoefsloot, E.H. (Lies), Arias-Vásquez, A. (Alejandro), Ligt, J. (Joep) de, Yntema, H.G., Jansen, J.H. (Joop H.), Muzny, D. (Donna), Huls, G. (Gerwin), Rossum, M.M. (Michelle) van, Lupski, J.R. (James R.), Moreno-Pelayo, M.A. (Miguel Angel), Kunst, H.P.M. (Henricus P.M.), Kremer, H. (Hannie)

المصدر: American Journal of Human Genetics vol. 97 no. 5, pp. 647-660

Relation: http://repub.eur.nl/pub/79302; urn:hdl:1765/79302

الاتاحة: http://repub.eur.nl/pub/79302
https://doi.org/10.1016/j.ajhg.2015.09.011

المؤلفون: Holt R. J., Young R. M., Crespo B., Ceroni F., Curry C. J., Bellacchio E., Bax D. A., Ciolfi A., Simon M., Fagerberg C. R., van Binsbergen E., De Luca A., Memo L., Dobyns W. B., Mohammed A. A., Clokie S. J. H., Zazo Seco C., Jiang Y. -H., Sorensen K. P., Andersen H., Sullivan J., Powis Z., Chassevent A., Smith-Hicks C., Petrovski S., Antoniadi T., Shashi V., Gelb B. D., Wilson S. W., Gerrelli D., Tartaglia M., Chassaing N., Calvas P., Ragge N. K.

المساهمون: Holt R.J., Young R.M., Crespo B., Ceroni F., Curry C.J., Bellacchio E., Bax D.A., Ciolfi A., Simon M., Fagerberg C.R., van Binsbergen E., De Luca A., Memo L., Dobyns W.B., Mohammed A.A., Clokie S.J.H., Zazo Seco C., Jiang Y.-H., Sorensen K.P., Andersen H., Sullivan J., Powis Z., Chassevent A., Smith-Hicks C., Petrovski S., Antoniadi T., Shashi V., Gelb B.D., Wilson S.W., Gerrelli D., Tartaglia M., Chassaing N., Calvas P., Ragge N.K.

مصطلحات موضوعية: human development, digit, eye, FBXW11, hedgehog, neurodevelopment, Noonan syndrome, WD40, Wnt

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/31402090; info:eu-repo/semantics/altIdentifier/wos/WOS:000484435700017; volume:105; issue:3; firstpage:640; lastpage:657; numberofpages:18; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11585/808310; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85071478718

الاتاحة: http://hdl.handle.net/11585/808310
https://doi.org/10.1016/j.ajhg.2019.07.005

المؤلفون: Plaisancie J., Ceroni F., Holt R., Zazo Seco C., Calvas P., Chassaing N., Ragge N. K.

المساهمون: Plaisancie J., Ceroni F., Holt R., Zazo Seco C., Calvas P., Chassaing N., Ragge N.K.

مصطلحات موضوعية: anophthalmia, microphthalmia, coloboma, human eye anomalies

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/30762128; info:eu-repo/semantics/altIdentifier/wos/WOS:000482786200003; volume:138; issue:8-9; firstpage:799; lastpage:830; numberofpages:32; journal:HUMAN GENETICS; http://hdl.handle.net/11585/811196; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85061600117

الاتاحة: http://hdl.handle.net/11585/811196
https://doi.org/10.1007/s00439-019-01977-y

المؤلفون: Zazo-Seco, C., Plaisancié, J., Bitoun, P., Corton, M., Arteche, A., Ayuso, C., Schneider, A., Zafeiropoulou, D., Gilissen, C.F., Roche, O., Frémont, F., Calvas, P., Slavotinek, A., Ragge, N., Chassaing, N.

المصدر: Journal of Human Genetics, 65, 5, pp. 487-491

مصطلحات موضوعية: Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences

Relation: https://hdl.handle.net/2066/220455; https://doi.org/10.1038/s10038-020-0726-x

الاتاحة: https://hdl.handle.net/2066/220455
https://doi.org/10.1038/s10038-020-0726-x

المؤلفون: Plaisancié, J., Ceroni, F., Holt, R., Zazo Seco, C., Calvas, P., Chassaing, N., Ragge, Nicola K.

المصدر: Genetics of anophthalmia and microphthalmia. Part 1, Non-syndromic anophthalmia/microphthalmia

وصف الملف: application/pdf

Relation: https://radar.brookes.ac.uk/radar/items/a1d70657-8f0b-4bf8-a16b-0b73a0774a37/1/; https://radar.brookes.ac.uk/radar/file/a1d70657-8f0b-4bf8-a16b-0b73a0774a37/1/Non-syndromic anophthalmia-microphthalmia - 2019.pdf

الاتاحة: https://radar.brookes.ac.uk/radar/items/a1d70657-8f0b-4bf8-a16b-0b73a0774a37/1/
https://radar.brookes.ac.uk/radar/file/a1d70657-8f0b-4bf8-a16b-0b73a0774a37/1/Non-syndromic anophthalmia-microphthalmia - 2019.pdf

المؤلفون: Vande Perre, P., Zazo Seco, C., Patat, O., Bouneau, L., Vigouroux, A., Bourgeois, D., El Hout, S., Chassaing, N., Calvas, P.

المساهمون: Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)

المصدر: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://ut3-toulouseinp.hal.science/hal-03160567 ; European Journal of Medical Genetics, 2018, 61 (2), pp.72-78. ⟨10.1016/j.ejmg.2017.10.018⟩.

مصطلحات موضوعية: 4q25, Axenfeld-rieger syndrome, Haploinsufficiency, PITX2, Tetralogy of fallot, MESH: Acetyltransferases / genetics, MESH: Adult, MESH: Male, MESH: Pedigree, MESH: Anterior Eye Segment / abnormalities, MESH: Phenotype, MESH: Tetralogy of Fallot / genetics, MESH: Tetralogy of Fallot / pathology, MESH: Tooth Abnormalities / genetics, MESH: Tooth Abnormalities / pathology, MESH: Transcription Factors / genetics, MESH: Anterior Eye Segment / pathology, MESH: Eye Abnormalities / pathology, MESH: Child, MESH: Chromosome Deletion, MESH: Chromosomes, Human, Pair 4 / genetics, MESH: Epidermal Growth Factor / genetics, MESH: Eye Abnormalities / genetics, MESH: Eye Diseases, Hereditary, MESH: Fatty Acid Elongases, MESH: Female, MESH: Glutamyl Aminopeptidase / genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/29100920; hal-03160567; https://ut3-toulouseinp.hal.science/hal-03160567; PUBMED: 29100920

الاتاحة: https://ut3-toulouseinp.hal.science/hal-03160567
https://doi.org/10.1016/j.ejmg.2017.10.018

المؤلفون: Zazo Seco, C., Castells Nobau, A., Joo, S.H., Schraders, M., Foo, J.N., Voet, M. van der, Velan, S.S., Nijhof, B., Oostrik, J., Vrieze, E. de, Katana, R., Mansoor, A., Huynen, M.A., Szklarczyk, R.J., Oti, M.O., Tranebjaerg, L., WIjk, E. van, Scheffer-de Gooyert, J.M., Siddique, S., Baets, J., Jonghe, P. De, Kazmi, S.A., Sadananthan, S.A., Warrenburg, B.P.C. van de, Khor, C.C., Gopfert, M.C., Qamar, R., Schenck, A., Kremer, H., Siddiqi, S

المصدر: Disease Models & Mechanisms, 10, 2, pp. 105-118

مصطلحات موضوعية: Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/169958/169958.pdf; http://hdl.handle.net/2066/169958

الاتاحة: http://hdl.handle.net/2066/169958
https://repository.ubn.ru.nl//bitstream/handle/2066/169958/169958.pdf
https://doi.org/10.1242/dmm.026476

المؤلفون: Zazo Seco, C., Wesdorp, F.M., Feenstra, I., Pfundt, R.P., Hehir-Kwa, J.Y., Lelieveld, S.H., Castelein, S., Gilissen, C.F., Wijs, I.J. de, Admiraal, R.J.C., Pennings, R.J.E., Kunst, H.P.M., Kamp, J.M. van de, Tamminga, S., Houweling, A.C., Plomp, A.S., Maas, S.M., Koning-Gans, P.A. de, Kant, S.G., Geus, C.M. de, Frints, S.G., Vanhoutte, E.K., Dooren, M.F. van, Boogaard, M.J. van den, Scheffer, H., Nelen, M.R., Kremer, H., Hoefsloot, L.H., Schraders, M., Yntema, H.G.

المصدر: European Journal of Human Genetics, 25, 3, pp. 308-314

مصطلحات موضوعية: Radboudumc 0: Other Research RIHS: Radboud Institute for Health Sciences, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 12: Sensory disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences

Relation: http://hdl.handle.net/2066/169850

الاتاحة: http://hdl.handle.net/2066/169850
https://doi.org/10.1038/ejhg.2016.182

المؤلفون: Zazo Seco, C.

المساهمون: Kremer, J.M.J., Schraders, M., Wijk, H.A.R. van, Radboud University Nijmegen

مصطلحات موضوعية: Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::81982771534a69f0f21410f0edc8974d
https://hdl.handle.net/2066/147488

المؤلفون: Kremer, J.M.J., Schraders, M., Wijk, H.A.R. van, Zazo Seco, C.

المصدر: ~~~~~~~~~~

URL: http://hdl.handle.net/2066/147488

المؤلفون: Zazo Seco, C., Castro, L.S. de, Nierop, J.W. van, Morin, M., Jhangiani, S., Verver, E.J., Schraders, M., Maiwald, N., Wesdorp, F.M., Venselaar, H., Spruijt, L., Oostrik, J., Schoots, J., Reeuwijk, J. van, Lelieveld, S.H., Huygen, P.L.M., Insenser, M., Admiraal, R.J.C., Pennings, R.J.E., Hoefsloot, L.H., Arias Vasquez, A., Ligt, J. de, Yntema, H.G., Jansen, J.H., Muzny, D.M., Huls, G.A., Rossum, M.M. van, Lupski, J.R., Moreno-Pelayo, M.A., Kunst, H.P.M., Kremer, H.

المصدر: American Journal of Human Genetics; 647; 60; 0002-9297; 5; vol. 97; ~American Journal of Human Genetics~647~60~~~0002-9297~5~97~~

URL: http://hdl.handle.net/2066/152605