المؤلفون: Maia, Nuno, Ibarluzea, Nekane, Misra-Isrie, Mala, Koboldt, Daniel C., Marques, Isabel, Soares, Gabriela, Santos, Rosário, Marcelis, Carlo L. M., Keski-Filppula, Riikka, Guitart, Miriam, Gabau Vila, Elisabeth, Lehman, April, Hickey, Scott, Mori, Mari, Terhal, Paulien, Valenzuela, Irene, Lasa-Aranzasti, Amaia, Cueto-González, Anna Maria, Chhouk, Brian H., Yeh, Rebecca C., Neil, Jennifer E., Abu-Libde, Bassam, Kleefstra, Tjitske, Elting, Mariet W., Császár, Andrea, Kárteszi, Judit, Bessenyei, Beáta, van Bokhoven, Hans, Jorge, Paula, van Hagen, Johanna M., de Brouwer, Arjan P. M.

المصدر: Maia , N , Ibarluzea , N , Misra-Isrie , M , Koboldt , D C , Marques , I , Soares , G , Santos , R , Marcelis , C L M , Keski-Filppula , R , Guitart , M , Gabau Vila , E , Lehman , A , Hickey , S , Mori , M , Terhal , P , Valenzuela , I , Lasa-Aranzasti , A , Cueto-González , A M , Chhouk , B H , Yeh , R C , Neil , J E , Abu-Libde , B , Kleefstra , T ....

الاتاحة: https://research.vumc.nl/en/publications/b842d293-e8d4-4bf3-b85f-4625087ef2c2
https://doi.org/10.1002/ajmg.a.63004
http://www.scopus.com/inward/record.url?scp=85140230561&partnerID=8YFLogxK

المؤلفون: Maia, Nuno, Potelle, Sven, Yildirim, Hamide, Duvet, Sandrine, Akula, Shyam K, Schulz, Celine, Wiame, Elsa, Gheldof, Alexander, O'Kane, Katherine, Lai, Abbe, Sermon, Karen, Proisy, Maïa, Loget, Philippe, Attié-Bitach, Tania, Quelin, Chloé, Fortuna, Ana Maria, Soares, Ana Rita, de Brouwer, Arjan P M, Van Schaftingen, Emile, Nassogne, Marie-Cécile, Walsh, Christopher A, Stouffs, Katrien, Jorge, Paula, Jansen, Anna C, Foulquier, François

المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - (SLuc) Centre de référence pour l'épilepsie réfractaire, UCL - (SLuc) Centre de référence en lésions congénitales de la moëlle épinière, UCL - (SLuc) Service de neurologie pédiatrique, UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique

المصدر: American journal of human genetics, Vol. 109, no. 2, p. 345-360 (2022)

مصطلحات موضوعية: Adolescent, Alleles, Brain Stem, Cell Line, Tumor, Central Nervous System Cysts, Cerebellar Vermis, Child, Preschool, Congenital Disorders of Glycosylation, Female, Fetus, Glycosylation, Hamartoma, Humans, Hypothalamus, Intellectual Disability, Leukocytes, Male, Mannose, Oligosaccharides, Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase, Polymicrogyria, Tongue, alpha-Mannosidase, MAN2C1, congenital disorder of deglycosylation, free oligosaccharides, neurodevelopmental disorder

Relation: boreal:263634; http://hdl.handle.net/2078.1/263634; info:pmid/35045343; urn:ISSN:0002-9297; urn:EISSN:1537-6605

الاتاحة: http://hdl.handle.net/2078.1/263634
https://doi.org/10.1016/j.ajhg.2021.12.010

المؤلفون: El Chehadeh, Salima, Han, Kyung Ah, Kim, Dongwook, Jang, Gyubin, Bakhtiari, Somayeh, Lim, Dongseok, Kim, Hee Young, Kim, Jinhu, Kim, Hyeonho, Wynn, Julia, Chung, Wendy K., Vitiello, Giuseppina, Cutcutache, Ioana, Page, Matthew, Gecz, Jozef, Harper, Kelly, Han, Ah-Reum, Kim, Ho Min, Wessels, Marja, Bayat, Allan, Jaén, Alberto Fernández, Selicorni, Angelo, Maitz, Silvia, de Brouwer, Arjan P. M., Silfhout, Anneke Vulto-Van, Armstrong, Martin, Symonds, Joseph, Küry, Sébastien, Isidor, Bertrand, Cogné, Benjamin, Nizon, Mathilde, Feger, Claire, Muller, Jean, Torti, Erin, Grange, Dorothy K., Willems, Marjolaine, Kruer, Michael C., Ko, Jaewon, Piton, Amélie, Um, Ji Won

المساهمون: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Les Hôpitaux Universitaires de Strasbourg (HUS), ITX-lab unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), Institut de génétique médicale, Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Institut universitaire de France (IUF), Ministère de l'Education nationale, de l’Enseignement supérieur et de la Recherche (M.E.N.E.S.R.)

المصدر: ISSN: 2041-1723.

مصطلحات موضوعية: [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences

الاتاحة: https://hal.science/hal-04225576
https://hal.science/hal-04225576v1/document
https://hal.science/hal-04225576v1/file/islandora_167641.pdf
https://doi.org/10.1038/s41467-022-31566-z

المؤلفون: Maia, Nuno, Ibarluzea, Nekane, Misra-Isrie, Mala, Koboldt, Daniel C., Marques, Isabel, Soares, Gabriela, Santos, Rosário, Marcelis, Carlo L. M., Keski-Filppula, Riikka, Guitart, Maria, Gabau, Elisabeth, Lehman, April, Hickey, Scott, Mori, Mari, Terhal, Paulien, Valenzuela, Irene, Lasa-Aranzasti, Amaia, Cueto-González, Anna Mª, Chhouk, Brian H., Yeh, Rebecca C., Neil, Jennifer E., Abu-Libde, Bassam, Kleefstra, Tjitske, Elting, Mariet W., Császár, Andrea, Kárteszi, Judit, Bessenyei, Beáta, van Bokhoven, Hans, Jorge, Paula, van Hagen, Johanna M., de Brouwer, Arjan P. M., Universitat Autònoma de Barcelona

مصطلحات موضوعية: Intellectual disability, MED12, Phenotype, Genotype

وصف الملف: application/pdf

Relation: American Journal of Medical Genetics. Part a; Vol. 191 (october 2022), p. 135-143; https://ddd.uab.cat/record/281602; urn:10.1002/ajmg.a.63004; urn:oai:ddd.uab.cat:281602; urn:pmcid:PMC10092556; urn:pmc-uid:10092556; urn:pmid:36271811; urn:oai:pubmedcentral.nih.gov:10092556; urn:articleid:15524833v191p135

الاتاحة: https://ddd.uab.cat/record/281602

المؤلفون: Polla, Daniel L., Edmondson, Andrew C., Duvet, Sandrine, March, Michael E., Sousa, Ana Berta, Lehman, Anna, Niyazov, Dmitriy, van Dijk, Fleur, Demirdas, Serwet, van Slegtenhorst, Marjon A., Kievit, Anneke J. A., Schulz, Celine, Armstrong, Linlea, Bi, Xin, Rader, Daniel J., Izumi, Kosuke, Zackai, Elaine H., de Franco, Elisa, Jorge, Paula, Huffels, Sophie C., Hommersom, Marina, Ellard, Sian, Lefeber, Dirk J., Santani, Avni, Hand, Nicholas J., van Bokhoven, Hans, He, Miao, de Brouwer, Arjan P. M.

مصطلحات موضوعية: CDG, dysmorphism, EDEM3, high-mannose, Mannosidase, mouse, N-glycan, UPR

Relation: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(21)00194-4; Polla, D. L. et al. (2021) ‘Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.’, American journal of human genetics, 108(7), pp. 1342–1349. doi:10.1016/j.ajhg.2021.05.010.; https://rde.dspace-express.com/handle/11287/622024; American journal of human genetics

الاتاحة: https://doi.org/10.1016/j.ajhg.2021.05.010
https://rde.dspace-express.com/handle/11287/622024

المؤلفون: Maia, N, Nabais Sá, Maria João, Oliveira, Cláudia, Santos, Flávia, Soares, Celia A, Prior, Catarina, Tkachenko, Nataliya, Santos, Rosário, de Brouwer, Arjan P. M., Jacome, Ariana, Porto, Beatriz, Jorge, Paula

مصطلحات موضوعية: DNA repair pathways, chromosome instability, neurodevelopmental disorder

Relation: info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F00215%2F2020/PT; info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/LA%2FP%2F0064%2F2020/PT; info:eu-repo/grantAgreement/FCT/FARH/SFRH%2FBPD%2F102435%2F2014/PT; https://www.mdpi.com/2073-4425/13/1/78; Maia N, Nabais Sá MJ, Oliveira C, et al. Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?. Genes (Basel). 2021;13(1):78.doi:10.3390/genes13010078; http://hdl.handle.net/10400.16/2840

الاتاحة: http://hdl.handle.net/10400.16/2840
https://doi.org/10.3390/genes13010078

المؤلفون: Maia, Nuno, Nabais Sá, Maria João, Melo-Pires, Manuel, de Brouwer, Arjan P. M., Jorge, Paula

المساهمون: fundação para a ciência e tecnologia, departamento de educação, formação e investigação do centro hospitalar universitário do porto

المصدر: BMC Genomics ; volume 22, issue 1 ; ISSN 1471-2164

الاتاحة: http://dx.doi.org/10.1186/s12864-021-08227-4
https://link.springer.com/content/pdf/10.1186/s12864-021-08227-4.pdf
https://link.springer.com/article/10.1186/s12864-021-08227-4/fulltext.html

المؤلفون: Nabais Sá, Maria J, Miller, Kerry A, McQuaid, Mary, Koelling, Nils, Wilkie, Andrew O M, Wurtele, Hugo, de Brouwer, Arjan P M, Oliveira, Jorge

المساهمون: Canadian Institute for Health Research, WIMM Strategic Alliance, National Institute for Health Research

المصدر: Journal of Medical Genetics ; volume 59, issue 8, page 776-780 ; ISSN 0022-2593 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmedgenet-2020-107572
https://syndication.highwire.org/content/doi/10.1136/jmedgenet-2020-107572

المؤلفون: Vissers, Lisenka E L M, Kalvakuri, Sreehari, de Boer, Elke, Geuer, Sinje, Oud, Machteld, van Outersterp, Inge, Kwint, Michael, Witmond, Melde, Kersten, Simone, Polla, Daniel L, Weijers, Dilys, Begtrup, Amber, McWalter, Kirsty, Ruiz, Anna, Gabau, Elisabeth, Morton, Jenny E V, Griffith, Christopher, Weiss, Karin, Gamble, Candace, Bartley, James, Vernon, Hilary J, Brunet, Kendra, Ruivenkamp, Claudia, Kant, Sarina G, Kruszka, Paul, Larson, Austin, Afenjar, Alexandra, Billette de Villemeur, Thierry, Nugent, Kimberly, DDD Study, Raymond, F Lucy, Venselaar, Hanka, Demurger, Florence, Soler-Alfonso, Claudia, Li, Dong, Bhoj, Elizabeth, Hayes, Ian, Hamilton, Nina Powell, Ahmad, Ayesha, Fisher, Rachel, van den Born, Myrthe, Willems, Marjolaine, Sorlin, Arthur, Delanne, Julian, Moutton, Sebastien, Christophe, Philippe, Mau-Them, Frederic Tran, Vitobello, Antonio, Goel, Himanshu, Massingham, Lauren, Phornphutkul, Chanika, Schwab, Jennifer, Keren, Boris, Charles, Perrine, Vreeburg, Maaike, De Simone, Lenika, Hoganson, George, Iascone, Maria, Milani, Donatella, Evenepoel, Lucie, Revencu, Nicole, Ward, D Isum, Burns, Kaitlyn, Krantz, Ian, Raible, Sarah E, Murrell, Jill R, Wood, Kathleen, Cho, Megan T, van Bokhoven, Hans, Muenke, Maximilian, Kleefstra, Tjitske, Bodmer, Rolf, de Brouwer, Arjan P M

المساهمون: UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL

المصدر: American journal of human genetics, Vol. 107, no.1, p. 164-172 (2020)

مصطلحات موضوعية: Alleles, Developmental Disabilities, Female, Gene Expression, Genetic Variation, Haploinsufficiency, Heterozygote, Humans, Male, Nervous System Malformations, Neurodevelopmental Disorders, Nuclear Receptor Subfamily 4, Group A, Member 2, Phenotype, Protein Stability, RNA, Receptors, CCR4, Transcription Factors, CCR4-NOT complex, CNOT1, Drosophila, de novo mutations, developmental delay, exome sequencing, genomics, intellectual disability, neurodevelopment

Relation: boreal:260411; http://hdl.handle.net/2078.1/260411; info:pmid/32553196; urn:ISSN:0002-9297; urn:EISSN:1537-6605

الاتاحة: http://hdl.handle.net/2078.1/260411
https://doi.org/10.1016/j.ajhg.2020.05.017

المؤلفون: Maia, Nuno, Soares, Ana Rita, Fortuna, Ana Maria, Marques, Isabel, Gonçalves, Ana, Santos, Rosário, Melo Pires, Manuel, de Brouwer, Arjan P. M., Jorge, Paula

المساهمون: Fundação para a Ciência e a Tecnologia

المصدر: Clinical Case Reports ; volume 8, issue 12, page 2476-2482 ; ISSN 2050-0904 2050-0904

الاتاحة: http://dx.doi.org/10.1002/ccr3.3146
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.3146
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ccr3.3146

المؤلفون: Nabais Sá, Maria J, Olson, Alexandra N, Yoon, Grace, Nimmo, Graeme A M, Gomez, Christopher M, Willemsen, Michèl A, Millan, Francisca, Schneider, Alexandra, Pfundt, Rolph, de Brouwer, Arjan P M, Dinman, Jonathan D, de Vries, Bert B A

المساهمون: Dutch Organization for Health Research and Development, National Institutes of Health

المصدر: Human Molecular Genetics ; volume 29, issue 24, page 3892-3899 ; ISSN 0964-6906 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/ddaa270
http://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddaa270/36197028/ddaa270.pdf
http://academic.oup.com/hmg/article-pdf/29/24/3892/36356457/ddaa270.pdf

المؤلفون: Zagnoli-Vieira, Guido, Bruni, Francesco, Thompson, Kyle, He, Langping, Walker, Sarah, de Brouwer, Arjan P. M., Taylor, Robert, Niyazov, Dmitriy, Caldecott, Keith W.

المساهمون: Zagnoli-Vieira, Guido, Bruni, Francesco, Thompson, Kyle, He, Langping, Walker, Sarah, de Brouwer, Arjan P. M., Taylor, Robert, Niyazov, Dmitriy, Caldecott, Keith W.

مصطلحات موضوعية: TDP2, ataxia autosomal recessive 23 (SCAR23)

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000445033000017; volume:4; issue:4; firstpage:e262; journal:NEUROLOGY. GENETICS; http://hdl.handle.net/11586/220306; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85060827381

الاتاحة: http://hdl.handle.net/11586/220306
https://doi.org/10.1212/NXG.0000000000000262

المؤلفون: Nabais Sá, Maria J., Jensik, Philip J., McGee, Stacey R., Parker, Michael J., Lahiri, Nayana, McNeil, Evan P., Kroes, Hester Y., Hagerman, Randi J., Harrison, Rachel E., Montgomery, Tara, Splitt, Miranda, Palmer, Elizabeth E., Sachdev, Rani K., Mefford, Heather C., Scott, Abbey A., Martinez-Agosto, Julian A., Lorenz, Rüdiger, Orenstein, Naama, Berg, Jonathan N., Amiel, Jeanne, Heron, Delphine, Keren, Boris, Cobben, Jan-Maarten, Menke, Leonie A., Marco, Elysa J., Graham, John M., Pierson, Tyler Mark, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Manzini, M. Chiara, Cauley, Edmund S., Colombo, Roberto, Odent, Sylvie, Dubourg, Christele, Phornphutkul, Chanika, de Brouwer, Arjan P. M., de Vries, Bert B. A., Vulto-vanSilfhout, Anneke T

المصدر: Nabais Sá , M J , Jensik , P J , McGee , S R , Parker , M J , Lahiri , N , McNeil , E P , Kroes , H Y , Hagerman , R J , Harrison , R E , Montgomery , T , Splitt , M , Palmer , E E , Sachdev , R K , Mefford , H C , Scott , A A , Martinez-Agosto , J A , Lorenz , R , Orenstein , N , Berg , J N , Amiel , J , Heron , D , ....

مصطلحات موضوعية: DEAF1, genotype, intellectual disability, neurodevelopmental disorder, phenotype, /dk/atira/pure/subjectarea/asjc/2700/2716, name=Genetics(clinical)

Relation: https://discovery.dundee.ac.uk/en/publications/74492ddf-8fe6-481c-8017-0598263aa0aa

الاتاحة: https://discovery.dundee.ac.uk/en/publications/74492ddf-8fe6-481c-8017-0598263aa0aa
https://doi.org/10.1038/s41436-019-0473-6
http://www.scopus.com/inward/record.url?scp=85063615212&partnerID=8YFLogxK

المؤلفون: Polla, Daniel L., Saunders, Harriet R., de Vries, Bert B. A., van Bokhoven, Hans, de Brouwer, Arjan P. M.

المساهمون: Seventh Framework Programme

المصدر: Molecular Genetics & Genomic Medicine ; volume 7, issue 10 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.861
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.861
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.861
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.861

المؤلفون: Polla, Daniel L., Rahikkala, Elisa, Bode, Michaela K., Määttä, Tuomo, Varilo, Teppo, Loman, Thyrza, Philips, Anju K., Kurki, Mitja, Palotie, Aarno, Körkkö, Jarmo, Vieira, Päivi, Avela, Kristiina, Jacquemin, Valérie, Pirson, Isabelle, Abramowicz, Marc, de Brouwer, Arjan P. M., Kuismin, Outi, van Bokhoven, Hans, Järvelä, Irma

المساهمون: Coordenação de Aperfeiçoamento de Pessoal de Nível Superior, EC | Seventh Framework Programme

المصدر: European Journal of Human Genetics ; volume 27, issue 8, page 1235-1243 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-019-0383-8
http://www.nature.com/articles/s41431-019-0383-8.pdf
http://www.nature.com/articles/s41431-019-0383-8

المؤلفون: Pol, Arjan, Renkema, G. Herma, Tangerman, Albert, Winkel, Edwin G., Engelke, Udo F., de Brouwer, Arjan P. M., Lloyd, Kent C., Araiza, Renee S., van den Heuvel, Lambert, Omran, Heymut, Olbrich, Heike, Elberink, Marijn Oude, Gilissen, Christian, Rodenburg, Richard J., Sass, Joern Oliver, Schwab, K. Otfried, Schafer, Hendrik, Venselaar, Hanka, Sequeira, J. Silvia, den Camp, Huub J. M. Op, Wevers, Ron A.

المصدر: Pol , A , Renkema , G H , Tangerman , A , Winkel , E G , Engelke , U F , de Brouwer , A P M , Lloyd , K C , Araiza , R S , van den Heuvel , L , Omran , H , Olbrich , H , Elberink , M O , Gilissen , C , Rodenburg , R J , Sass , J O , Schwab , K O , Schafer , H , Venselaar , H , Sequeira , J S , den Camp , H J M O & ....

مصطلحات موضوعية: SELENIUM-BINDING PROTEIN-1, VOLATILE SULFUR-COMPOUNDS, METHYL MERCAPTAN OXIDASE, HIGH-RESOLUTION H-1-NMR, BLOOD-BORNE HALITOSIS, HYDROGEN-SULFIDE, GLUTATHIONE-PEROXIDASE, CEREBROSPINAL-FLUID, GAS-CHROMATOGRAPHY, DIMETHYL SULFIDE

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/2386c341-5688-441c-8b18-946ba78ff15a
https://research.rug.nl/en/publications/2386c341-5688-441c-8b18-946ba78ff15a
https://doi.org/10.1038/s41588-017-0006-7
https://pure.rug.nl/ws/files/62719965/s41588_017_0006_7.pdf
http://wrap.warwick.ac.uk/96909/1/WRAP-mutations-SELENBP1-encoding-novel-human-methanethiol-oxidase-Schafer-2017.pdf

المؤلفون: Ansar, Muhammad, Riazuddin, Saima, Sarwar, Muhammad Tahir, Makrythanasis, Periklis, Paracha, Sohail Aziz, Iqbal, Zafar, Khan, Jamshed, Assir, Muhammad Zaman, Hussain, Mureed, Razzaq, Attia, Polla, Daniel Lôpo, Taj, Abid Sohail, Holmgren, Asbjørn, Batool, Naila, Misceo, Doriana, Iwaszkiewicz, Justyna, de Brouwer, Arjan P M, Guipponi, Michel, Hanquinet, Sylviane, Zoete, Vincent, Santoni, Federico A, Frengen, Eirik, Ahmed, Jawad, Riazuddin, Sheikh, van Bokhoven, Hans, Antonarakis, Stylianos

المصدر: ISSN: 1098-3600 ; Genetics in Medicine, vol. 20, no. 7 (2018) p. 778-784.

مصطلحات موضوعية: info:eu-repo/classification/ddc/576.5, info:eu-repo/classification/ddc/616.0757, info:eu-repo/classification/ddc/590, info:eu-repo/classification/ddc/618, consanguineous families, developmental delay, intellectual disability, LINGO1

Relation: info:eu-repo/semantics/altIdentifier/pmid/28837161; info:eu-repo/grantAgreement/EC/FP7/241995/EU/Genetic and Epigenetic Networks in Cognitive Dysfunction/GENCODYS; https://archive-ouverte.unige.ch/unige:100052; unige:100052

الاتاحة: https://archive-ouverte.unige.ch/unige:100052

المؤلفون: Maroofian, Reza, Riemersma, Moniek, Jae, Lucas T., Zhianabed, Narges, Willemsen, Marjolein H., Wissink-Lindhout, Willemijn M., Willemsen, Michèl A., de Brouwer, Arjan P. M., Mehrjardi, Mohammad Yahya Vahidi, Ashrafi, Mahmoud Reza, Kusters, Benno, Kleefstra, Tjitske, Jamshidi, Yalda, Nasseri, Mojila, Pfundt, Rolph, Brummelkamp, Thijn R., Abbaszadegan, Mohammad Reza, Lefeber, Dirk J., van Bokhoven, Hans

المصدر: Genome Medicine, 9(1), 118, (2017-12-22)

مصطلحات موضوعية: Dystroglycan, B3GALNT2, Muscular dystrophy-dystroglycanopathy syndrome, Intellectual disability, Epilepsy

Relation: https://zenodo.org/communities/fp7-bmc; https://zenodo.org/communities/eu; oai:zenodo.org:1129507

الاتاحة: https://doi.org/10.1186/s13073-017-0505-2

المؤلفون: Tomas-Roca, Laura, Tsaalbi-Shtylik, Anastasia, Jansen, Jacob G., Singh, Manvendra K., Epstein, Jonathan A., Altunoglu, Umut, Verzijl, Harriette, Soria, Laura, van Beusekom, Ellen, Roscioli, Tony, Iqbal, Zafar, Gilissen, Christian, Hoischen, Alexander, de Brouwer, Arjan P. M., Erasmus, Corrie, Schubert, Dirk, Brunner, Han, Aytes, Antonio Perez, Marin, Faustino, Aroca, Pilar

المصدر: NATURE COMMUNICATIONS 6

Relation: https://aperta.ulakbim.gov.tr/record/78263; oai:zenodo.org:78263

الاتاحة: https://aperta.ulakbim.gov.tr/record/78263

المؤلفون: Vulto-van Silfhout, Anneke T, Rajamanickam, Shivakumar, Jensik, Philip J, Vergult, Sarah, de Rocker, Nina, Newhall, Kathryn J, Raghavan, Ramya, Reardon, Sara N, Jarrett, Kelsey, McIntyre, Tara, Bulinski, Joseph, Ownby, Stacy L, Huggenvik, Jodi I, McKnight, G Stanley, Rose, Gregory M, Cai, Xiang, Willaert, Andy, Zweier, Christiane, Endele, Sabine, de Ligt, Joep, van Bon, Bregje W M, Lugtenberg, Dorien, de Vries, Petra F, Veltman, Joris A, van Bokhoven, Hans, Brunner, Han G, Rauch, Anita, de Brouwer, Arjan P M, Carvill, Gemma L, Hoischen, Alexander, Mefford, Heather C, Eichler, Evan E, Vissers, Lisenka E L M, Menten, Björn, Collard, Michael W, de Vries, Bert B A

المصدر: Vulto-van Silfhout, Anneke T; Rajamanickam, Shivakumar; Jensik, Philip J; Vergult, Sarah; de Rocker, Nina; Newhall, Kathryn J; Raghavan, Ramya; Reardon, Sara N; Jarrett, Kelsey; McIntyre, Tara; Bulinski, Joseph; Ownby, Stacy L; Huggenvik, Jodi I; McKnight, G Stanley; Rose, Gregory M; Cai, Xiang; Willaert, Andy; Zweier, Christiane; Endele, Sabine; de Ligt, Joep; van Bon, Bregje W M; Lugtenberg, Dorien; de Vries, Petra F; Veltman, Joris A; van Bokhoven, Hans; Brunner, Han G; Rauch, Anita; de Brouwer, Arjan P M; Carvill, Gemma L; Hoischen, Alexander; Mefford, Heather C; Eichler, Evan E; Vissers, Lisenka E L M; Menten, Björn; Collard, Michael W; ....

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/99947/1/Vulto-van%20Silfhout%20et%20al,%20Mutations%20affecting%20the%20SAND.pdf; info:pmid/24726472; urn:issn:0002-9297

الاتاحة: https://www.zora.uzh.ch/id/eprint/99947/
https://doi.org/10.1016/j.ajhg.2014.03.013