المؤلفون: Amato, María Eugenia, Darling, Alejandra, Stovickova, Lucie, Attard, Stephen, Eggink, Hendriekje, Engelen, Marc, Freilinger, Michael, Grosso, Salvatore, Hadzsiev, Kinga, Moroni, Isabella, Nardocci, Nardo, Neubauer, David, Nicita, Francesco, Pagliano, Emanuela, Siegert, Sandy, Soler, Doriette, van de Pol, Laura A, Vasco, Gessica, Vidailhet, Marie, Willemsen, Michel Aap, Zibordi, Federica, Zorzi, Giovanna, Zumrova, Alena, Reinhard, Carola, Sevin, Caroline, Wolf, Nicole, Rodriguez-Blazquez, Carmen, Sival, Deborah A, Ortigoza-Escobar, Juan Darío

المصدر: Pediatric issues working group of the European Reference Network for Rare Neurological Diseases (ERN-RND) , Amato , M E , Darling , A , Stovickova , L , Attard , S , Eggink , H , Engelen , M , Freilinger , M , Grosso , S , Hadzsiev , K , Moroni , I , Nardocci , N , Neubauer , D , Nicita , F , Pagliano , E , Siegert , S , Soler , D , van de Pol , L A , Vasco , G , Vidailhet , M , Willemsen , M A ....

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/2fd34ee8-fb49-4b73-9609-5523907ca609
https://research.rug.nl/en/publications/2fd34ee8-fb49-4b73-9609-5523907ca609
https://doi.org/10.1016/j.ejpn.2024.06.011
https://pure.rug.nl/ws/files/1055458125/1-s2.0-S1090379824000977-main.pdf

المؤلفون: Amato, María Eugenia, Darling, Alejandra, Stovickova, Lucie, Attard, Stephen, Eggink, Hendriekje, Engelen, Marc, Freilinger, Michael, Grosso, Salvatore, Hadzsiev, Kinga, Moroni, Isabella, Nardocci, Nardo, Neubauer, David, Nicita, Francesco, Pagliano, Emanuela, Siegert, Sandy, Soler, Doriette, van de Pol, Laura A., Vasco, Gessica, Vidailhet, Marie, Willemsen, Michel AAP.

المصدر: European Journal of Paediatric Neurology; Sep2024, Vol. 52, p10-19, 10p

مصطلحات موضوعية: TRANSITIONAL care, MOVEMENT disorders, CHILD patients, NEUROLOGICAL disorders, GENETIC disorder diagnosis

المؤلفون: Verhaegh, Anke PM, Nuijen, Nienke B, Aarts, Pauline BM, Nijhuis-van der Sanden, Maria W G, Willemsen, Michèl AAP, Groen, Brenda E, Vriezekolk, Johanna E

المصدر: BMC Pediatrics ; volume 22, issue 1 ; ISSN 1471-2431

الاتاحة: http://dx.doi.org/10.1186/s12887-022-03432-w
https://link.springer.com/content/pdf/10.1186/s12887-022-03432-w.pdf
https://link.springer.com/article/10.1186/s12887-022-03432-w/fulltext.html

المؤلفون: Engelke, Udo Fg, van Outersterp, Rianne E, Merx, Jona, van Geenen, Fred Amg, van Rooij, Arno, Berden, Giel, Huigen, Marleen Cdg, Kluijtmans, Leo Aj, Peters, Tessa Ma, Al-Shekaili, Hilal H, Leavitt, Blair R, de Vrieze, Erik, Broekman, Sanne, van Wijk, Erwin, Tseng, Laura A, Kulkarni, Purva, Rutjes, Floris Pjt, Mecinović, Jasmin, Struys, Eduard A, Jansen, Laura A, Gospe, Sidney M, Mercimek-Andrews, Saadet, Hyland, Keith, Willemsen, Michel Aap, Bok, Levinus A, Van Karnebeek, Clara Dm, Wevers, Ron A, Boltje, Thomas J, Oomens, Jos, Martens, Jonathan, Coene, Karlien Lm

المصدر: Engelke , U F , van Outersterp , R E , Merx , J , van Geenen , F A , van Rooij , A , Berden , G , Huigen , M C , Kluijtmans , L A , Peters , T M , Al-Shekaili , H H , Leavitt , B R , de Vrieze , E , Broekman , S , van Wijk , E , Tseng , L A , Kulkarni , P , Rutjes , F P , Mecinović , J , Struys , E A , Jansen , L A , Gospe , ....

وصف الملف: application/pdf

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/b01a7d11-b214-4740-a0b4-1e3fd84e2ed4
https://doi.org/10.1172/JCI148272
https://findresearcher.sdu.dk/ws/files/199510927/148272.2_20210720163422_covered_e0fd13ba177f913fd3156f593ead4cfd.pdf

المؤلفون: Polet, Sjoukje S, Anderson, David G, Koens, Lisette H, van Egmond, Martje E, Drost, Gea, Brusse, Esther, Willemsen, Michèl Aap, Sival, Deborah A, Brouwer, Oebele F, Kremer, Hubertus Ph, de Vries, Jeroen J, Tijssen, Marina Aj, de Koning, Tom J

المصدر: Polet , S S , Anderson , D G , Koens , L H , van Egmond , M E , Drost , G , Brusse , E , Willemsen , M A , Sival , D A , Brouwer , O F , Kremer , H P , de Vries , J J , Tijssen , M A & de Koning , T J 2020 , ' A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients ' , Parkinsonism & Related Disorders , vol. 72 , pp. ....

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/3a96be43-955a-418e-b315-b79d3903c55d
https://research.rug.nl/en/publications/3a96be43-955a-418e-b315-b79d3903c55d
https://doi.org/10.1016/j.parkreldis.2020.02.005
https://pure.rug.nl/ws/files/119122743/A_detailed_description_of_the_phenotypic_spectrum_of_North_Sea_Progressive_Myoclonus_Epilepsy_in_a_large_cohort_of_seventeen_patients_Elsevier_Enhanced_Reader.pdf

المؤلفون: Hengel, Holger, Bosso-Lefèvre, Célia, Grady, George, Szenker-Ravi, Emmanuelle, Li, Hankun, Pierce, Sarah, Lebigot, Élise, Tan, Thong-Teck, Eio, Michelle Y, Narayanan, Gunaseelan, Utami, Kagistia Hana, Yau, Monica, Handal, Nader, Deigendesch, Werner, Keimer, Reinhard, Marzouqa, Hiyam M, Gunay-Aygun, Meral, Muriello, Michael J, Verhelst, Helene, Weckhuysen, Sarah, Mahida, Sonal, Naidu, Sakkubai, Thomas, Terrence G, Lim, Jiin Ying, Tan, Ee Shien, Haye, Damien, Willemsen, Michèl AAP, Oegema, Renske, Mitchell, Wendy G, Pierson, Tyler Mark, Andrews, Marisa V, Willing, Marcia C, Rodan, Lance H, Barakat, Tahsin Stefan, van Slegtenhorst, Marjon, Gavrilova, Ralitza H, Martinelli, Diego, Gilboa, Tal, Tamim, Abdullah M, Hashem, Mais O, AlSayed, Moeenaldeen D, Abdulrahim, Maha M, Al-Owain, Mohammed, Awaji, Ali, Mahmoud, Adel AH, Faqeih, Eissa A, Asmari, Ali Al, Algain, Sulwan M, Jad, Lamyaa A, Aldhalaan, Hesham M, Helbig, Ingo, Koolen, David A, Riess, Angelika, Kraegeloh-Mann, Ingeborg, Bauer, Peter, Gulsuner, Suleyman, Stamberger, Hannah, Ng, Alvin Yu Jin, Tang, Sha, Tohari, Sumanty, Keren, Boris, Schultz-Rogers, Laura E, Klee, Eric W, Barresi, Sabina, Tartaglia, Marco, Mor-Shaked, Hagar, Maddirevula, Sateesh, Begtrup, Amber, Telegrafi, Aida, Pfundt, Rolph, Schüle, Rebecca, Ciruna, Brian, Bonnard, Carine, Pouladi, Mahmoud A, Stewart, James C, Claridge-Chang, Adam, Lefeber, Dirk J, Alkuraya, Fowzan S, Mathuru, Ajay S, Venkatesh, Byrappa, Barycki, Joseph J, Simpson, Melanie A, Jamuar, Saumya S, Schöls, Ludger, Reversade, Bruno

المصدر: Nature Communications, vol 11, iss 1

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Neurosciences, Neurodegenerative, Epilepsy, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Neurological, Adolescent, Alleles, Animals, Child, Preschool, Female, Genes, Recessive, Humans, Infant, Kinetics, Loss of Function Mutation, Male, Organoids, Oxidoreductases, Pedigree, Protein Domains, Syndrome, Uridine Diphosphate Glucose Dehydrogenase

وصف الملف: application/pdf

Relation: qt5f80k46t; https://escholarship.org/uc/item/5f80k46t

الاتاحة: https://escholarship.org/uc/item/5f80k46t

المؤلفون: van de Warrenburg, Bart P, Schouten, Meyke I, de Bot, Susanne T, Vermeer, Sascha, Meijer, Rowdy, Pennings, Maartje, Gilissen, Christian, Willemsen, Michèl AAP, Scheffer, Hans, Kamsteeg, Erik-Jan

المصدر: European Journal of Human Genetics ; volume 24, issue 10, page 1460-1466 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2016.42
http://www.nature.com/articles/ejhg201642.pdf
http://www.nature.com/articles/ejhg201642

المؤلفون: Weller, Claudia M, Leen, Wilhelmina G, Neville, Brian GR, Duncan, John S, Vries, Boukje de, Geilenkirchen, Marije A, Haan, Joost, Kamsteeg, Erik-Jan, Ferrari, Michel D, Maagdenberg, Arn MJM van den, Willemsen, Michèl AAP, Scheffer, Hans, Terwindt, Gisela M

المصدر: Cephalalgia ; volume 35, issue 1, page 10-15 ; ISSN 0333-1024 1468-2982

الاتاحة: https://doi.org/10.1177/0333102414532379
https://journals.sagepub.com/doi/pdf/10.1177/0333102414532379
https://journals.sagepub.com/doi/full-xml/10.1177/0333102414532379

المؤلفون: Schuurs-Hoeijmakers, Janneke H.M., De Vries, Bert BA, Hehir-Kwa, Jane Y, Pfundt, Rolph, Van Bon, Bregje WM, De Leeuw, Nicole, Kleefstra, Tjitske, Willemsen, Michel AAP, Geurts Van Kessel, Ad, Brunner, Han G, Veltman, Joris A, Van Bokhoven, Hans J., De Brouwer, Arjan PM

المساهمون: Human Genetics

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: homozygosity mapping, mental retardation/intellectual disability, outbred families

Relation: hal-00609414; https://hal.archives-ouvertes.fr/hal-00609414; https://hal.archives-ouvertes.fr/hal-00609414/document; https://hal.archives-ouvertes.fr/hal-00609414/file/PEER_stage2_10.1038%252Fejhg.2010.167.pdf

الاتاحة: https://hal.archives-ouvertes.fr/hal-00609414
https://hal.archives-ouvertes.fr/hal-00609414/document
https://hal.archives-ouvertes.fr/hal-00609414/file/PEER_stage2_10.1038%252Fejhg.2010.167.pdf
https://doi.org/10.1038/ejhg.2010.167

المؤلفون: Oostendorp, Marlies, Engelke, Udo FH, Willemsen, Michèl AAP, Wevers, Ron A

المصدر: Clinical Chemistry ; volume 52, issue 7, page 1395-1405 ; ISSN 0009-9147 1530-8561

الاتاحة: http://dx.doi.org/10.1373/clinchem.2006.069112
http://academic.oup.com/clinchem/article-pdf/52/7/1395/32685930/clinchem1395.pdf

المؤلفون: Brandsma, R., Verschuuren-Bemelmans, Corien C.C., Amrom, Dina, Barisic, N., Baxter, Peter Stuart P., Bertini, Enrico, Blumkin, Lubov, Brankovic-Sreckovic, Vesna, Brouwer, Oebele O.F., Bürk, Katrin, Catsman-Berrevoets, Coriene, Craiu, Dana, de Coo, Irenaeus I.F.M., Gburek, J., Kennedy, Colin, de Koning, Tom T.J., Kremer, Hannie H.P.H., Kumar, Ram, Macaya, Alfons, Micalizzi, Alessia, Mirabelli-Badenier, Marisol, Nemeth, Andrea, Nuovo, Sara, Poll-The, Bwee Tien T B.T., Lerman-Sagie, Tally, Steinlin, Maja, Synofzik, Matthis, Tijssen, M.A.J., Vasco, Gessica, Willemsen, Michèl Aap, Zanni, Ginevra, Valente, Enza Maria, Boltshauser, Eugen, Sival, D.A.

المصدر: European journal of paediatric neurology, 23 (5

مصطلحات موضوعية: Neurologie, Pédiatrie, Algorithm, Cerebellum, Child, Diagnosis, Early Onset Ataxia, NGS techniques

وصف الملف: No full-text files

Relation: uri/info:doi/10.1016/j.ejpn.2019.08.004; uri/info:pii/S1090379819300273; uri/info:pmid/31481303; uri/info:scp/85071490568; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/297115

الاتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/297115

المؤلفون: van de Warrenburg, Bart P, Schouten, Meyke I, de Bot, Susanne T, Vermeer, Sascha, Meijer, Rowdy, Pennings, Maartje, Gilissen, Christian, Willemsen, Michèl AAP, Scheffer, Hans, Kamsteeg, Erik-Jan

المصدر: European Journal of Human Genetics ; volume 25, issue 3, page 393-0 ; ISSN 1018-4813 1476-5438

الاتاحة: https://doi.org/10.1038/ejhg.2016.168
http://www.nature.com/articles/ejhg2016168.pdf
http://www.nature.com/articles/ejhg2016168