المؤلفون: Laney, D.A., Houde, M.F., Foley, A.L., Peck, D.S., Atherton, A.M., Manwaring, L.P., Grange, D.K., Heese, B.A., Holida, M.D., Quillin, A.L., Vinson, R., Auray-Blais, C., Hopkin, R.J.

المساهمون: Sanofi Genzyme

المصدر: Genetics in Medicine Open ; volume 2, page 101891 ; ISSN 2949-7744

الاتاحة: https://doi.org/10.1016/j.gimo.2024.101891
https://api.elsevier.com/content/article/PII:S2949774424010379?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424010379?httpAccept=text/plain

المؤلفون: Hughes, Derralynn A, Bichet, D.G., Giugliani, R., Hopkin, R.J., Krusinska, E., Nicholls, K., Olivotto, I., Feldt-Rasmussen, U., Sakai, N., Skuban, N., Sunder-Plassmann, G., Torra Balcells, Roser, Wilcox, W.R., Universitat Autònoma de Barcelona

مصطلحات موضوعية: Cardiovascular Diseases, Cerebrovascular Disorders, Genetics, Medical, Mutation

وصف الملف: application/pdf

Relation: Journal of medical genetics; Vol. 60 Núm. 7 (january 2023), p. 722-731; https://ddd.uab.cat/record/301310; urn:oai:ddd.uab.cat:301310; urn:scopus_id:85148627704; urn:articleid:14686244v60n7p722; urn:pmid:36543533; urn:pmcid:PMC10359570; urn:oai:pubmedcentral.nih.gov:10359570

الاتاحة: https://ddd.uab.cat/record/301310

المؤلفون: Guo, H., Li, Y., Shen, L., Wang, T., Jia, X., Liu, L., Xu, T., Ou, M., Hoekzema, K., Wu, H., Gillentine, M.A., Liu, C., Ni, H., Peng, P., Zhao, R., Zhang, Y., Phornphutkul, C., Stegmann, A.P.A., Prada, C.E., Hopkin, R.J.

المصدر: http://dx.doi.org/10.1126/sciadv.aax2166.

مصطلحات موضوعية: Neurons, Synapses, Animals, Humans, Mice, Disease Models, Animal, Genetic Predisposition to Disease, RNA-Binding Proteins, DNA-Binding Proteins, Pedigree, Autistic Disorder, Synaptic Transmission, Phenotype, Adolescent, Child, Preschool, Female, Male, Genetic Variation, Neurogenesis, Young Adult, Genetic Loci, Genetic Association Studies

Relation: Science Advances, 2019; 5(9):1-17; http://hdl.handle.net/2440/129636; Gecz, J. [0000-0002-7884-6861]; Haan, E. [0000-0002-7310-5124]

الاتاحة: http://hdl.handle.net/2440/129636
https://doi.org/10.1126/sciadv.aax2166

المؤلفون: Angelozzi, M., Karvande, A., Molin, A.N., Ritter, A.L., Leonard, J.M.M., Savatt, J.M., Douglass, K., Myers, S.M., Grippa, M., Tolchin, D., Zackai, E., Donoghue, S., Hurst, A.C.E., Descartes, M., Smith, K., Velasco, D., Schmanski, A., Crunk, A., Tokita, M.J., Lange, I.M. de, Gassen, K. van, Robinson, H., Guegan, K., Suri, M., Patel, C., Bournez, M., Faivre, L., Tran-Mau-Them, F., Baker, J., Fabie, N., Weaver, K., Shillington, A., Hopkin, R.J., Barge-Schaapveld, D.Q.C.M., Ruivenkamp, C. al, Bokenkamp, R., Vergano, S., Moro, M.N.S., Bustamante, A.D. de, Misra, V.K., Kennelly, K., Rogers, C., Friedman, J., Wigby, K.M., Lenberg, J., Graziano, C., Ahrens-Nicklas, R.C., Lefebvre, V.

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: genetic variation, congenital, hereditary, gene expression regulation, neonatal diseases, abnormalities

وصف الملف: application/pdf

Relation: lumc-id: 176354399; https://hdl.handle.net/1887/3563135

الاتاحة: https://hdl.handle.net/1887/3563135
https://doi.org/10.1136/jmedgenet-2021-108375

المؤلفون: Walker, M.E., Blough, R.I., Bove, K.E., Hopkin, R.J.

المصدر: Genetics in Medicine ; volume 2, issue 1, page 89 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1097/00125817-200001000-00139
https://api.elsevier.com/content/article/PII:S1098360021004445?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021004445?httpAccept=text/plain

المؤلفون: Hopkin, R.J., Walker, M., Stanek, J.

المصدر: Genetics in Medicine ; volume 1, issue 2, page 55 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1097/00125817-199901000-00057
https://api.elsevier.com/content/article/PII:S1098360021006316?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021006316?httpAccept=text/plain

المؤلفون: Konrad, E.D.H., Nardini, N., Caliebe, A., Nagel, I., Young, D., Horvath, G., Santoro, S.L., Shuss, C., Ziegler, A., Bonneau, D., Kempers, M.J.E., Pfundt, R.P., Legius, E., Bouman, A., Stuurman, K.E., Ounap, K., Pajusalu, S., Wojcik, M.H., Vasileiou, G., Guyader, G. Le, Schnelle, H.M., Berland, S., Zonneveld-Huijssoon, E., Kersten, S., Gupta, A., Blackburn, P.R., Ellingson, M.S., Ferber, M.J., Dhamija, R., Klee, E.W., McEntagart, M., Lichtenbelt, K.D., Kenney, A., Vergano, Samantha A., Jamra, R. Abou, Platzer, K., Pierpont, M. Ella, Khattar, D., Hopkin, R.J., Martin, R.J., Jongmans, M.C.J., Chang, V.Y., Martinez-Agosto, J.A., Kuismin, O., Kurki, M.I., Pietilainen, O., Palotie, A., Maarup, T.J., Johnson, D.S., Pedersen, K., Laulund, L.W., Lynch, S.A., Blyth, M., Prescott, K., Canham, N., Ibitoye, R., Brilstra, E.H., Shinawi, M., Fassi, E., Sticht, H., Gregor, A., Esch, H. Van, Zweier, C.

المصدر: Genetics in Medicine, 21, 12, pp. 2723-2733

مصطلحات موضوعية: Radboudumc 4: lnfectious Diseases and Global Health RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/215582/215582.pdf; http://hdl.handle.net/2066/215582

الاتاحة: http://hdl.handle.net/2066/215582
https://repository.ubn.ru.nl//bitstream/handle/2066/215582/215582.pdf
https://doi.org/10.1038/s41436-019-0585-z

المؤلفون: Blok, L.S., Hiatt, S.M., Bowling, K.M., Prokop, J.W., Engel, K.L., Cochran, J.N., Bebin, E.M., Bijlsma, E.K., Ruivenkamp, C.A.L., Terhal, P., Simon, M.E.H., Smith, R., Hurst, J.A., McLaughlin, H., Person, R., Crunk, A., Wangler, M.F., Streff, H., Symonds, J.D., Zuberi, S.M., Elliott, K.S., Sanders, V.R., Masunga, A., Hopkin, R.J., Dubbs, H.A., Ortiz-Gonzalez, X.R., Pfundt, R., Brunner, H.G., Fisher, S.E., Kleefstra, T., Cooper, G.M., DDD Study

المصدر: Human Genetics

وصف الملف: application/pdf

Relation: https://link.springer.com/content/pdf/10.1007/s00439-018-1887-y.pdf; lumc-id: 57129334; https://hdl.handle.net/1887/79386

الاتاحة: https://hdl.handle.net/1887/79386
https://link.springer.com/content/pdf/10.1007/s00439-018-1887-y.pdf
https://doi.org/10.1007/s00439-018-1887-y

المؤلفون: Gil-Rodriguez, M.C., Deardorff, M.A., Ansari, M., Tan, C.A., Parenti, I., Baquero-Montoya, C., Ousager, L.B., Puisac, B., Hernandez-Marcos, M., Teresa-Rodrigo, M.E., Marcos-Alcalde, I., Wesselink, J.J., Lusa-Bernal, S., Bijlsma, E.K., Braunholz, D., Bueno-Martinez, I., Clark, D., Cooper, N.S., Curry, C.J., Fisher, R., Fryer, A., Ganesh, J., Gervasini, C., Gillessen-Kaesbach, G., Guo, Y., Hakonarson, H., Hopkin, R.J., Kaur, M., Keating, B.J., Kibaek, M., Kinning, E., Kleefstra, T., Kline, A.D., Kuchinskaya, E., Larizza, L., Li, Y.R., Liu, X., Mariani, M., Picker, J.D., Pie, A., Pozojevic, J., Queralt, E., Richer, J., Roeder, E., Sinha, A., Scott, R.H., So, J., Wusik, K.A., Wilson, L., Zhang, J., Gomez-Puertas, P., Casale, C.H., Strom, L., Selicorni, A., Ramos, F.J., Jackson, L.G., Krantz, I.D., Das, S., Hennekam, R.C., Kaiser, F.J., FitzPatrick, D.R., Pie, J.

المصدر: Human Mutation, 36, 4, pp. 454-62

مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: http://hdl.handle.net/2066/154932

الاتاحة: http://hdl.handle.net/2066/154932
https://doi.org/10.1002/humu.22761

المؤلفون: Schuurs-Hoeijmakers, J.H.M., Landsverk, M.L., Foulds, N., Kukolich, M.K., Gavrilova, R.H., Greville-Heygate, S., Hanson-Kahn, A., Bernstein, J.A., Glass, J., Chitayat, D., Burrow, T.A., Husami, A., Collins, K., Wusik, K., Aa, N. van der, Kooy, F., Brown, K.T., Gadzicki, D., Kini, U., Alvarez, S., Fernandez-Jaen, A., McGehee, F., Selby, K., Tarailo-Graovac, M., Allen, M., Karnebeek, C.D. van, Stavropoulos, D.J., Marshall, C.R., Merico, D., Gregor, A., Zweier, C., Hopkin, R.J., Chu, Y.W., Chung, B.H., Vries, B. de, Devriendt, K., Hurles, M.E., Brunner, H.G.

المصدر: American Journal of Medical Genetics. Part A; 670; 675; 1552-4825; 3; 170; ~American Journal of Medical Genetics. Part A~670~675~~~1552-4825~3~170~~

URL: http://hdl.handle.net/2066/167655

المؤلفون: Krone, N., Reisch, N., Idkowiak, J., Dhir, V., Ivison, H.E., Hughes, B.A., Rose, I.T., O'Neil, D.M., Vijzelaar, R., Smith, M.J., Macdonald, F., Cole, T.R., Adolphs, N., Barton, J.S., Blair, E.M., Braddock, S.R., Collins, F., Cragun, D.L., Dattani, M.T., Day, R., Dougan, S., Feist, M., Gottschalk, M.E., Gregory, J.W., Haim, M., Harrison, R., Olney, A.H., Hauffa, B.P., Hindmarsh, P.C., Hopkin, R.J., Jira, P.E., Kempers, M.J.E., Kerstens, M.N., Khalifa, M.M., Kohler, B., Maiter, D., Nielsen, S., O'Riordan, S.M., Roth, C.L., Shane, K.P., Silink, M., Stikkelbroeck, N., Sweeney, E., Szarras-Czapnik, M., Waterson, J.R., Williamson, L., Hartmann, M.F., Taylor, N.F., Wudy, S.A., Malunowicz, E.M., Shackleton, C.H., Arlt, W.

المصدر: Journal of Clinical Endocrinology and Metabolism, 97, 2, pp. E257-67

مصطلحات موضوعية: IGMD 3: Genomic disorders and inherited multi-system disorders, IGMD 6: Hormonal regulation

Relation: http://hdl.handle.net/2066/108033; https://doi.org/10.1210/jc.2011-0640

الاتاحة: http://hdl.handle.net/2066/108033
https://doi.org/10.1210/jc.2011-0640

المؤلفون: Tylki-Szymanska, A., Hopkin, R.J., Banikazemi, M., Germain, D.P., Mauer, M., Warnock, D.G., Wilcox, W.A.

المصدر: Clinical Therapeutics ; volume 34, issue 4, page e27 ; ISSN 0149-2918

الاتاحة: http://dx.doi.org/10.1016/j.clinthera.2012.03.052
https://api.elsevier.com/content/article/PII:S0149291812002020?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0149291812002020?httpAccept=text/plain

المؤلفون: Feldt-Rasmussen, U., Watt, T., Burlina, A.P., Cazzorla, C., Schönfeld, D., Banikazemi, M., Hopkin, R.J., Martins, A.M., Sims, K., Beitner-Johnson, D., O'Brien, F.

المصدر: Clinical Therapeutics ; volume 34, issue 4, page e26 ; ISSN 0149-2918

الاتاحة: http://dx.doi.org/10.1016/j.clinthera.2012.03.049
https://api.elsevier.com/content/article/PII:S0149291812001993?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0149291812001993?httpAccept=text/plain

المؤلفون: Wilcox, W.R., Oliveira, J.P., Hopkin, R.J., Ortiz, A., Banikazemi, M., Feldt-Rasmussen, U., Sims, K., Waldek, S., Pastores, G.M., Lee, P., Eng, C.M., Marodi, L., Stanford, K.E., Breunig, F., Wanner, C., Warnock, D.G., Lemay, R.M., Germain, D.P.

المصدر: Wilcox , W R , Oliveira , J P , Hopkin , R J , Ortiz , A , Banikazemi , M , Feldt-Rasmussen , U , Sims , K , Waldek , S , Pastores , G M , Lee , P , Eng , C M , Marodi , L , Stanford , K E , Breunig , F , Wanner , C , Warnock , D G , Lemay , R M & Germain , D P 2008 , ' Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry ' , ....

الاتاحة: https://researchprofiles.ku.dk/da/publications/females-with-fabry-disease-frequently-have-major-organ-involvement-lessons-from-the-fabry-registry(423dfa60-9d0c-11de-bc73-000ea68e967b).html

المؤلفون: Hopkin, R.J., Schorry, E., Bofinger, M., Milatovich, A., Stern, H.J., Jayne, C., Saal, H.M.

المصدر: American Journal of Medical Genetics ; volume 70, issue 4, page 377-386 ; ISSN 0148-7299 1096-8628

الاتاحة: http://dx.doi.org/10.1002/(sici)1096-8628(19970627)70:4%3C377::aid-ajmg9%3E3.3.co%3B2-s
http://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F(SICI)1096-8628(19970627)70:4%3C377::AID-AJMG9%3E3.3.CO%3B2-S

المؤلفون: Shooner, K.A., Rope, A.F., Hopkin, R.J., Andelfinger, G.U., Benson, D.W.

المصدر: The Journal of Pediatrics; March 2005, Vol. 146 Issue: 3 p382-387, 6p

المؤلفون: Barnett, N.D.P., Kaplan, A.M., Hopkin, R.J., Saubolle, M.A., Rudinsky, M.F.

المصدر: Pediatric Neurology; 1996, Vol. 15 Issue: 3 p230-234, 5p

المؤلفون: Salomone, F.¹ f.salomone@chiesi.com, Bernat, J.A.², Hughes, D.³, Linhart, A.⁴, Hopkin, R.J.⁵, Tøndel, C.⁶, Warnock, D.G.⁷, Rup, B.⁸, Koulinska, I.⁹, Rocco, R.¹⁰, Alon, S.¹¹, Chertkoff, R.¹¹, Almon, E.B.¹¹, Sakov, A.¹², Wallace, E.L.¹³

المصدر: Revue de Médecine Interne. 2024 Supplement 1, Vol. 45, pA222-A223. 2p.

المؤلفون: Hopkin, R.J.

المصدر: Jamaica Gleaner; 10/23/2010, Vol. 176 Issue 253, pA10-A10, 1/5p

المؤلفون: Flavia Palombo, Maarten Fornerod, Grazia M.S. Mancini, Joseph G. Gleeson, Lily Bazak, Esmee Kasteleijn, Natalia Ordonez-Herrera, Milena Laure-Kamionowska, Fowzan S. Alkuraya, Pawel Gawlinski, William B. Dobyns, Mariasavina Severino, Marjolein H G Dremmen, Marco Seri, Marie Claire Y. de Wit, Robert B. Hufnagel, Ghayda Mirzaa, Laura Vandervore, Rachel Schot, Maarten H. Lequin, Lina Basel-Salmon, Arndt Rolfs, Robert J. Hopkin, Ahmed Al Fares, Nicola Brunetti-Pierri, Bella Davidov, Gerarda Cappuccio, Maria Teresa Divizia, Rolf W. Stottmann, Daphne J. Smits, Aida M. Bertoli-Avella, Wojciech Wiszniewski, Damir Musaev, Valentina Stanley, Hanah Akleh, Peter Bauer, Amal Alhashem, Martina Wilke, Jeroen Demmers, Malak Al Ghamdi, Marjon van Slegtenhorst, Pasquale Striano, Mees van der Ent, Pamela Magini, Tommaso Pippucci, Marta Columbaro, Maha S. Zaki, Anna Jansen, Deema Aljeaid, Peter J. van der Spek, Noa Ruhrman Shahar, Frans W. Verheijen

المساهمون: Clinical Biology, Clinical sciences, Faculty of Medicine and Pharmacy, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, Magini, P., Smits, D. J., Vandervore, L., Schot, R., Columbaro, M., Kasteleijn, E., van der Ent, M., Palombo, Francesco, Lequin, M. H., Dremmen, M., de Wit, M. C. Y., Severino, M., Divizia, M. T., Striano, P., Ordonez-Herrera, N., Alhashem, A., Al Fares, A., Al Ghamdi, M., Rolfs, A., Bauer, P., Demmers, J., Verheijen, F. W., Wilke, M., van Slegtenhorst, M., van der Spek, P. J., Seri, M., Jansen, A. C., Stottmann, R. W., Hufnagel, R. B., Hopkin, R. J., Aljeaid, D., Wiszniewski, W., Gawlinski, P., Laure-Kamionowska, M., Alkuraya, F. S., Akleh, H., Stanley, V., Musaev, D., Gleeson, J. G., Zaki, M. S., Brunetti-Pierri, N., Cappuccio, G., Davidov, B., Basel-Salmon, L., Bazak, L., Shahar, N. R., Bertoli-Avella, A., Mirzaa, G. M., Dobyns, W. B., Pippucci, T., Fornerod, M., Mancini, G. M. S., Clinical Genetics, Clinical Chemistry, Cell biology, Radiology & Nuclear Medicine, Neurology, Biochemistry, Pathology, Magini P., Smits D.J., Vandervore L., Schot R., Columbaro M., Kasteleijn E., van der Ent M., Palombo F., Lequin M.H., Dremmen M., de Wit M.C.Y., Severino M., Divizia M.T., Striano P., Ordonez-Herrera N., Alhashem A., Al Fares A., Al Ghamdi M., Rolfs A., Bauer P., Demmers J., Verheijen F.W., Wilke M., van Slegtenhorst M., van der Spek P.J., Seri M., Jansen A.C., Stottmann R.W., Hufnagel R.B., Hopkin R.J., Aljeaid D., Wiszniewski W., Gawlinski P., Laure-Kamionowska M., Alkuraya F.S., Akleh H., Stanley V., Musaev D., Gleeson J.G., Zaki M.S., Brunetti-Pierri N., Cappuccio G., Davidov B., Basel-Salmon L., Bazak L., Shahar N.R., Bertoli-Avella A., Mirzaa G.M., Dobyns W.B., Pippucci T., Fornerod M., Mancini G.M.S.

المصدر: American Journal of Human Genetics, 105(4), 689-705. Cell Press

مصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Ceramide, RNA Splicing, Mitosis, Cell fate determination, Biology, Endoplasmic Reticulum, Article, arthrogryposis, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Genetics, medicine, Humans, Cell Lineage, microcephaly, Nuclear pore, Child, SMPD4, Genetics (clinical), Arthrogryposis, arthrogryposi, neutral-sphingomyelinase, Gene Expression Profiling, Autophagy, medicine.disease, Sphingolipid, Pedigree, NET13, Cell biology, HEK293 Cells, Sphingomyelin Phosphodiesterase, 030104 developmental biology, chemistry, Neurodevelopmental Disorders, Female, medicine.symptom, Sphingomyelin, 030217 neurology & neurosurgery

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e2925851eb5a1d6d25eae66765e184d
https://pure.eur.nl/en/publications/33486e7c-9ab9-4b4f-97ca-3cd94a79b93f