المؤلفون: P.J. van der Sluijs, M. Gösgens, A.J.M. Dingemans, P. Striano, A. Riva, C. Mignot, A. Faudet, G. Vasileiou, M. Walther, S.A. Schrier Vergano, M. Alders, F.S. Alkuraya, I. Alorainy, H.S. Alsaif, B. Anderlid, I. Bache, I. van Beek, M. Blanluet, B.W. van Bon, T. Brunet, H. Brunner, M.L. Carriero, P. Charles, N. Chatron, E. Coccia, C. Dubourg, R.K. Earl, E.E. Eichler, L. Faivre, N. Foulds, C. Graziano, A.M. Guerrot, M.O. Hashem, S. Heide, D. Heron, S.E. Hickey, S.M.J. Hopman, A. Kattentidt-Mouravieva, J. Kerkhof, J.S. Klein Wassink-Ruiter, E.C. Kurtz-Nelson, K. Kušíková, M. Kvarnung, F. Lecoquierre, G.S. Leszinski, L. Loberti, P.L. Magoulas, F. Mari, I. Maystadt, G. Merla, J.M. Milunsky, S. Moortgat, G. Nicolas, M.O.’ Leary, S. Odent, J.R. Ozmore, K. Parbhoo, R. Pfundt, M. Piccione, A.M. Pinto, B. Popp, A. Putoux, H.L. Rehm, A. Reis, A. Renieri, J.A. Rosenfeld, M. Rossi, E. Salzano, P. Saugier-Veber, M. Seri, G. Severi, F.M. Sonmez, G. Strobl-Wildemann, K.E. Stuurman, E. Uctepe, H. Van Esch, G. Vitetta, B.B.A. de Vries, D. Wahl, T. Wang, P. Zacher, K.R. Heitink, F.G. Ropers, D. Steenbeek, T. Rybak, G.W.E. Santen

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101873- (2024)

مصطلحات موضوعية: Adult, ARID1B, Coffin–Siris syndrome, Developmental delay, Intellectual disability, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424010197; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/a69068b027154c3c8fb3c081422af42c

المؤلفون: den Hoed, Joery, de Boer, Elke, Voisin, Norine, Dingemans, Alexander, Guex, Nicolas, Wiel, Laurens, Nellaker, Christoffer, Amudhavalli, Shivarajan, Banka, Siddharth, Bena, Frederique, Ben-Zeev, Bruria, Bonagura, Vincent, Bruel, Ange-Line, Brunet, Theresa, Brunner, Han, Chew, Hui, Chrast, Jacqueline, Cimbalistienė, Loreta, Coon, Hilary, Délot, Emmanuèlle, Démurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Donnai, Dian, Dyment, David, Elpeleg, Orly, Faivre, Laurence, Gilissen, Christian, Granger, Leslie, Haber, Benjamin, Hachiya, Yasuo, Abedi, Yasmin, Hanebeck, Jennifer, Hehir-Kwa, Jayne, Horist, Brooke, Itai, Toshiyuki, Jackson, Adam, Jewell, Rosalyn, Jones, Kelly, Joss, Shelagh, Kashii, Hirofumi, Kato, Mitsuhiro, Kattentidt-Mouravieva, Anja, Kok, Fernando, Kotzaeridou, Urania, Krishnamurthy, Vidya, Kučinskas, Vaidutis, Kuechler, Alma, Lavillaureix, Alinoë, Liu, Pengfei, Manwaring, Linda, Matsumoto, Naomichi, Mazel, Benoît, McWalter, Kirsty, Meiner, Vardiella, Mikati, Mohamad, Miyatake, Satoko, Mizuguchi, Takeshi, Moey, Lip, Mohammed, Shehla, Mor-Shaked, Hagar, Mountford, Hayley, Newbury-Ecob, Ruth, Odent, Sylvie, Orec, Laura, Osmond, Matthew, Palculict, Timothy, Parker, Michael, Petersen, Andrea, Pfundt, Rolph, Preikšaitienė, Eglė, Radtke, Kelly, Ranza, Emmanuelle, Rosenfeld, Jill, Santiago-Sim, Teresa, Schwager, Caitlin, Sinnema, Margje, Snijders Blok, Lot, Spillmann, Rebecca, Stegmann, Alexander, Thiffault, Isabelle, Tran, Linh, Vaknin-Dembinsky, Adi, Vedovato-Dos-Santos, Juliana, Schrier Vergano, Samantha, Vilain, Eric, Vitobello, Antonio, Wagner, Matias, Waheeb, Androu, Willing, Marcia, Zuccarelli, Britton, Kini, Usha, Newbury, Dianne, Kleefstra, Tjitske, Reymond, Alexandre, Fisher, Simon, Vissers, Lisenka

المصدر: American Journal of Human Genetics. 108(2)

مصطلحات موضوعية: HPO-based analysis, SATB1, cell-based functional assays, de novo variants, intellectual disability, neurodevelopmental disorders, seizures, teeth abnormalities, Chromatin, Female, Genetic Association Studies, Haploinsufficiency, Humans, Male, Matrix Attachment Region Binding Proteins, Models, Molecular, Mutation, Mutation, Missense, Neurodevelopmental Disorders, Protein Binding, Protein Domains, Transcription, Genetic

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/70f7n18h

المؤلفون: Besterman, Aaron D, Althoff, Thorsten, Elfferich, Peter, Gutierrez-Mejia, Irma, Sadik, Joshua, Bernstein, Jonathan A, van Ierland, Yvette, Kattentidt-Mouravieva, Anja A, Nellist, Mark, Abramson, Jeff, Martinez-Agosto, Julian A

المصدر: PLOS Genetics. 17(7)

مصطلحات موضوعية: Brain Disorders, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Neurosciences, Genetics, Aetiology, 2.1 Biological and endogenous factors, Adult, Child, Preschool, Developmental Disabilities, Female, Humans, Intellectual Disability, Male, Megalencephaly, Middle Aged, Mutation, Mutation, Missense, Neurodevelopmental Disorders, Phenotype, TOR Serine-Threonine Kinases, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/48x1267f
https://escholarship.org/content/qt48x1267f/qt48x1267f.pdf

المؤلفون: Johannesen, Katrine M, Nielsen, Jimmi, Sabers, Anne, Isidor, Bertrand, Kattentidt-Mouravieva, Anja A., Zieglgänsberger, Dominik, Abulí Vidal, Anna

المساهمون: Institut Català de la Salut, Johannesen KM Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark. Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Member of the European Reference Network, EpiCARE, Dianalund, Denmark. Nielsen J Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. Mental Health Centre Glostrup, Copenhagen University Hospital, Capital Region of Denmark Mental Health Services, Glostrup, Denmark. Sabers A Epilepsy Clinic, Department of Neurology, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark. Isidor B Service de Génétique Médicale, CHU de Nantes, Nantes, France. Kattentidt-Mouravieva AA Stichting Zuidwester, Middelharnis, Netherlands. Zieglgänsberger D Department of Neurolgy, Kantonsspital St. Gallen, St. Gallen, Switzerland. Abuli Vidal A Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Epilèpsia - Aspectes genètics, Fenotip, Trastorns del desenvolupament - Aspectes genètics, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders, Other subheadings::Other subheadings::Other subheadings::/genetics, PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype, DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Epilepsy, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, Otros calificadores::Otros calificadores::Otros calificadores::/genética, FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::epilepsia

وصف الملف: application/pdf

Relation: Frontiers in Neuroscience;17; https://doi.org/10.3389/fnins.2023.1216653; Johannesen KM, Nielsen J, Sabers A, Isidor B, Kattentidt-Mouravieva AA, Zieglgänsberger D, et al. The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders. Front Neurosci. 2023 Aug 17;17:1216653.; https://hdl.handle.net/11351/10289

الاتاحة: https://hdl.handle.net/11351/10289
https://doi.org/10.3389/fnins.2023.1216653

المؤلفون: Spurdle, AB, Whiley, PJ, Thompson, B, Feng, BJ, Healey, S, Brown, MA, Pettigrew, C, Van Asperen, CJ, Ausems, MGEM, Kattentidt-Mouravieva, AA, van den Ouweland, AMW, Lindblom, A, Pigg, MH, Schmutzler, RK, Engel, C, Meindl, A, Caputo, S, Sinilnikova, OM, Lidereau, R, Couch, FJ, Guidugli, L, Hansen, TV, Thomassen, M, Eccles, DM, Tucker, K, Benitez, J, Domchek, SM, Toland, AE, Van Rensburg, EJ, Wappenschmidt, B, Borg, A, Vreeswijk, MPG, Goldgar, DE

المصدر: Journal of medical genetics. 49(8):525-532

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:125095307

المؤلفون: Benedetta Kassabian, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Rikke S. Møller, Katrine M. Johannesen, Guido Rubboli

المصدر: Frontiers in Neuroscience, Vol 17 (2023)

مصطلحات موضوعية: SLC6A1, intrafamilial variability, epilepsy, neurodevelopmental disorders, intellectual disability, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2023.1270299/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/7533f9f845bf4c47b91866edd70387ed

المؤلفون: Benedetta Kassabian, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Rikke S. Møller, Katrine M. Johannesen, Guido Rubboli

المصدر: Frontiers in Neuroscience, Vol 17 (2023)

مصطلحات موضوعية: SLC6A1, intrafamilial variability, epilepsy, neurodevelopmental disorders, intellectual disability, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2023.1219262/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/b5e06920b7a34b5dbc7784d184b2df59

المؤلفون: Aaron D Besterman, Thorsten Althoff, Peter Elfferich, Irma Gutierrez-Mejia, Joshua Sadik, Jonathan A Bernstein, Yvette van Ierland, Anja A Kattentidt-Mouravieva, Mark Nellist, Jeff Abramson, Julian A Martinez-Agosto

المصدر: PLoS Genetics, Vol 17, Iss 7, p e1009651 (2021)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/f757fb86f4094e309faddeac52736bbc

المؤلفون: Rosenberg, Anna G. W., Pater, Minke R. A., Pellikaan, Karlijn, Davidse, Kirsten, Kattentidt-Mouravieva, Anja A., Kersseboom, Rogier, Bos-Roubos, Anja G., van Eeghen, Agnies, Veen, José M. C., van der Meulen, Jiske J., van Aalst-van Wieringen, Nina, Hoekstra, Franciska M. E., van der Lely, Aart J., de Graaff, Laura C. G.

المصدر: Rosenberg , A G W , Pater , M R A , Pellikaan , K , Davidse , K , Kattentidt-Mouravieva , A A , Kersseboom , R , Bos-Roubos , A G , van Eeghen , A , Veen , J M C , van der Meulen , J J , van Aalst-van Wieringen , N , Hoekstra , F M E , van der Lely , A J & de Graaff , L C G 2021 , ' What every internist-endocrinologist should know about rare genetic syndromes in order to prevent needless diagnostics, missed diagnoses and medical ....

Relation: https://research.vumc.nl/en/publications/6076af8d-26d4-4b57-a0a0-3631b08e1633

الاتاحة: https://research.vumc.nl/en/publications/6076af8d-26d4-4b57-a0a0-3631b08e1633
https://doi.org/10.3390/jcm10225457
http://www.scopus.com/inward/record.url?scp=85120003276&partnerID=8YFLogxK

المؤلفون: Pellikaan, Karlijn, Rosenberg, Anna G.W., Davidse, Kirsten, Kattentidt-Mouravieva, Anja A., Kersseboom, Rogier, Bos-Roubos, Anja G., Grootjen, Lionne N., Damen, Layla, van den Berg, Sjoerd A.A., van der Lely, Aart J., Hokken-Koelega, Anita C.S., de Graaff, Laura C.G.

المصدر: Pellikaan , K , Rosenberg , A G W , Davidse , K , Kattentidt-Mouravieva , A A , Kersseboom , R , Bos-Roubos , A G , Grootjen , L N , Damen , L , van den Berg , S A A , van der Lely , A J , Hokken-Koelega , A C S & de Graaff , L C G 2021 , ' Effects of childhood multidisciplinary care and growth hormone treatment on health problems in adults with prader-willi syndrome ' , Journal of Clinical Medicine , vol. 10 , no. 15 , 3250 . ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM015401, name=EMC MM-01-54-01, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/e292fc2e-670f-4349-8d91-40786da46b5b
https://doi.org/10.3390/jcm10153250
https://pure.eur.nl/ws/files/42250968/jcm_10_03250_v3.pdf
http://www.scopus.com/inward/record.url?scp=85114078808&partnerID=8YFLogxK

المؤلفون: den Hoed, J., de Boer, E., Voisin, N., Dingemans, A.J.M., Guex, N., Wiel, L., Nellaker, C., Amudhavalli, S.M., Banka, S., Bena, F.S., Ben-Zeev, B., Bonagura, V.R., Bruel, A.L., Brunet, T., Brunner, H.G., Chew, H.B., Chrast, J., Cimbalistiene, L., Coon, H., Delot, E.C., Demurger, F., Denomme-Pichon, A.S., Depienne, C., Donnai, D., Dyment, D.A., Elpeleg, O., Faivre, L., Gilissen, C., Granger, L., Haber, B., Hachiya, Y., Abedi, Y.H., Hanebeck, J., Hehir-Kwa, J.Y., Horist, B., Itai, T., Jackson, A., Jewell, R., Jones, K.L., Joss, S., Kashii, H., Kato, M., Kattentidt-Mouravieva, A.A., Kok, F., Kotzaeridou, U., Krishnamurthy, V., Kucinskas, V., Kuechler, A., Lavillaureix, A., Liu, P.F., Fisher, Simon E.

المصدر: den Hoed , J , de Boer , E , Voisin , N , Dingemans , A J M , Guex , N , Wiel , L , Nellaker , C , Amudhavalli , S M , Banka , S , Bena , F S , Ben-Zeev , B , Bonagura , V R , Bruel , A L , Brunet , T , Brunner , H G , Chew , H B , Chrast , J , Cimbalistiene , L , Coon , H , Delot , E C , Demurger , F , Denomme-Pichon , A S ....

مصطلحات موضوعية: MISSENSE MUTATIONS, BINDING PROTEIN, EXPRESSION, INTERLEUKIN-2, CHROMATIN, REGION, GENES

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/e49bdbbc-76c5-4fd5-ba44-8898c9f6a550
https://doi.org/10.1016/j.ajhg.2021.01.007

المؤلفون: Aaron D. Besterman (11061044), Thorsten Althoff (10846022), Peter Elfferich (3508580), Irma Gutierrez-Mejia (11061047), Joshua Sadik (11061050), Jonathan A. Bernstein (9353526), Yvette van Ierland (524465), Anja A. Kattentidt-Mouravieva (11061053), Mark Nellist (549064), Jeff Abramson (3737131), Julian A. Martinez-Agosto (10329686)

مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Biotechnology, Sociology, Cancer, Chemical Sciences not elsewhere classified, surface area, acid side-chain accessibility, SKS, novel Smith-Kingsmore Syndrome-Asso., 3 D properties, variants cause disease, 4 novel MTOR variants, mechanism, MTOR variant pathogenicity, pathogenicity Smith-Kingsmore syndrome, acid side chains, MTOR variants, report 7 patients, MTOR Complex 2 activation, Incorporating 3 D properties, MTOR Complex 1 activation

Relation: https://figshare.com/articles/journal_contribution/_i_MTOR_i_Missense_Variants_Subjected_to_i_in_vitro_i_Functional_Assessment_/14895962

الاتاحة: https://doi.org/10.1371/journal.pgen.1009651.s004

المؤلفون: Pellikaan, K., Rosenberg, A.G.W., Kattentidt Mouravieva, A.A. (Anna), Kersseboom, R., Bos-Roubos, A.G., Veen-Roelofs, J.M.C., van Wieringen, N., Hoekstra, F.M.E., Berg, S.A.A. (Sjoerd) van den, Lely, A.J.D., Graaff, L.C.G. (Laura) de

المصدر: Journal of Clinical Endocrinology and Metabolism vol. 105 no. 12

مصطلحات موضوعية: Prader-Willi syndrome, cardiovascular system, missed diagnosis, comorbidity, failure to rescue, health care

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/133787; urn:hdl:1765/133787

الاتاحة: http://repub.eur.nl/pub/133787
https://doi.org/10.1210/clinem/dgaa621

المؤلفون: Johannesen, Katrine M., Nielsen, Jimmi, Sabers, Anne, Isidor, Bertrand, Kattentidt-Mouravieva, Anja A., Zieglgänsberger, Dominik, Heidlebaugh, Alexis R., Oetjens, Kathryn F., Vidal, Anna Abuli, Christensen, Jakob, Tiller, Jacob, Freed, Amber N., Møller, Rikke S., Rubboli, Guido

المصدر: Johannesen , K M , Nielsen , J , Sabers , A , Isidor , B , Kattentidt-Mouravieva , A A , Zieglgänsberger , D , Heidlebaugh , A R , Oetjens , K F , Vidal , A A , Christensen , J , Tiller , J , Freed , A N , Møller , R S & Rubboli , G 2023 , ' The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders ' , Frontiers in Neuroscience , vol. 17 , 1216653 .

مصطلحات الفهرس: epilepsy, epilepsy genetics, intellectual disability, neurodevelopmental disorders, SLC6A1, article

URL: https://curis.ku.dk/portal/da/publications/the-phenotypic-presentation-of-adult-individuals-with-slc6a1related-neurodevelopmental-disorders(02258167-a943-4899-9932-b2971ebf60c9).html
https://doi.org/10.3389/fnins.2023.1216653
https://curis.ku.dk/ws/files/388330440/fnins_17_1216653.pdf

المؤلفون: den Hoed, Joery, de Boer, Elke, Voisin, N, Dingemans, A, Guex, N, Wiel, L, Nellaker, C, Amudhavalli, S, Banka, S, Bena, F, Ben-Zeev, B, Bonagura, V, Bruel, A, Brunet, T, Brunner, H. G., Chew, H. B., Chrast, J., Cimbalistienė, Loreta, Coon, Hilary, study, The DDD, Délot, Emmanuèlle C, Démurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, C., Donnai, Dian, Dyment, David A, Elpeleg, Orly, Faivre, L, Gilissen, Christian, Granger, L., Haber, Benjamin, Hachiya, Yasuo, Abedi, Yasmin Hamzavi, Hanebeck, Jennifer, Hehir-Kwa, Jayne Y, Horist, Brooke, Itai, Toshiyuki, Jackson, Adam, Jewell, Rosalyn, Jones, Kelly L., Joss, Shelagh, Kashii, Hirofumi, Kato, Mitsuhiro, Kattentidt-Mouravieva, Anja A, Kok, Fernando, Kotzaeridou, Urania, Krishnamurthy, Vidya, Kučinskas, Vaidutis, Kuechler, Alma, Lavillaureix, Alinoë, Liu, Pengfei, Manwaring, Linda, Matsumoto, Naomichi, Mazel, Benoît, McWalter, Kirsty, Meiner, Vardiella, Mikati, Mohamad A., Miyatake, Satoko, Mizuguchi, Takeshi, Moey, Lip H., Mohammed, Shehla, Mor-Shaked, Hagar, Mountford, Hayley, Newbury-Ecob, Ruth, Odent, Sylvie, Orec, Laura, Osmond, Matthew, Palculict, Timothy Blake, Parker, Michael, Petersen, Andrea K., Pfundt, Rolph, Preikšaitienė, Eglė, Radtke, Kelly, Ranza, Emmanuelle, Rosenfeld, Jill A., Santiago-Sim, Teresa, Schwager, Caitlin, Sinnema, Margje, Blok, Lot Snijders, Spillmann, Rebecca C., Stegmann, Alexander P A, Thiffault, Isabelle, Tran, Linh, Vaknin-Dembinsky, Adi, Vedovato-dos-Santos, Juliana H., Schrier Vergano, Samantha A., Vilain, Eric, Vitobello, Antonio, Wagner, Matias, Waheeb, Androu, Willing, Marcia C., Zuccarelli, Britton D, Kini, Usha, Newbury, Dianne F., Kleefstra, Tjitske, Reymond, Alexandre, Fisher, Simon E., Vissers, Lisenka E L M

المصدر: den Hoed , J , de Boer , E , Voisin , N , Dingemans , A , Guex , N , Wiel , L , Nellaker , C , Amudhavalli , S , Banka , S , Bena , F , Ben-Zeev , B , Bonagura , V , Bruel , A , Brunet , T , Brunner , H G , Chew , H B , Chrast , J , Cimbalistienė , L , Coon , H , study , T DDD , Délot , E C , Démurger , F , Denommé-Pichon , A-S , Depienne ....

Relation: https://research.manchester.ac.uk/en/publications/852f1155-ef4a-453c-8289-2881abeab005

الاتاحة: https://research.manchester.ac.uk/en/publications/852f1155-ef4a-453c-8289-2881abeab005
https://doi.org/10.1101/2020.10.23.352278
http://europepmc.org/abstract/PPR/PPR229744

المؤلفون: W J, Idema, D N, Konz, A F, Mulder, A A, Kattentidt-Mouravieva, M C, Kasius, W A, Ester

المصدر: Tijdschrift voor psychiatrie. 64(10)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::35d775ba17de3b436ec7e74293823310
https://pubmed.ncbi.nlm.nih.gov/36583273

المؤلفون: Kassabian, Benedetta, Dühring Fenger, Christina, Willems, Marjolaine, Aledo-Serrano, Angel, Linnankivi, Tarja, Pojomovsky McDonnell, Pamela, Lusk, Laina, Jepsen, Birgit Susanne, Bayat, Michael, Kattentidt-Mouravieva, Anja A., Abulí Vidal, Anna, Valero-Lopez, Gabriel, Alarcon-Martinez, Helena, Goodspeed, Kimberly, van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Møller, Rikke S., Johannesen, Katrine M., Rubboli, Guido

المصدر: Frontiers in Neuroscience; 2023, p01-11, 11p

مصطلحات موضوعية: EPILEPSY, GENETIC disorders, AUTISM spectrum disorders, MOVEMENT disorders, MENTAL illness, NEURAL development

المؤلفون: Sjoerd A A van den Berg, Aart Jan van der Lely, Layla Damen, Anita C. S. Hokken-Koelega, Laura C. G. de Graaff, Lionne N Grootjen, Anna G W Rosenberg, Karlijn Pellikaan, Anja A Kattentidt-Mouravieva, Anja G Bos-Roubos, Kirsten Davidse, Rogier Kersseboom

المساهمون: Internal Medicine, Pediatrics, Clinical Chemistry

المصدر: Journal of Clinical Medicine
Journal of Clinical Medicine, 10(15):3250. Multidisciplinary Digital Publishing Institute (MDPI)
Volume 10
Issue 15
Journal of Clinical Medicine, Vol 10, Iss 3250, p 3250 (2021)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, 030209 endocrinology & metabolism, Adult age, Article, 03 medical and health sciences, Health problems, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Multidisciplinary approach, Diabetes mellitus, Intellectual disability, medicine, 030212 general & internal medicine, business.industry, nutritional and metabolic diseases, General Medicine, medicine.disease, Comorbidity, Hypotonia, Growth hormone treatment, comorbidity, transition to adult care, growth hormone, Medicine, medicine.symptom, Prader-Willi syndrome, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b1f6400c954ebb7ca9adde7fe6ebe8a
http://europepmc.org/articles/PMC8347981

المؤلفون: Irma Gutierrez-Mejia, Thorsten Althoff, Anja A. Kattentidt-Mouravieva, Yvette van Ierland, Joshua Sadik, Mark Nellist, Aaron D. Besterman, Julian A. Martinez-Agosto, Jonathan A. Bernstein, Jeff Abramson, Peter Elfferich

المساهمون: Kwiatkowski, David J, Clinical Genetics

المصدر: PLoS genetics, vol 17, iss 7
PLoS Genetics, 17(7):e1009651. Public Library of Science
PLoS Genetics
PLoS Genetics, Vol 17, Iss 7, p e1009651 (2021)

مصطلحات موضوعية: 0301 basic medicine, Male, Cancer Research, Developmental Disabilities, Disease, Pathogenesis, QH426-470, Pathology and Laboratory Medicine, Biochemistry, Fats, Database and Informatics Methods, 0302 clinical medicine, Neurodevelopmental disorder, Medicine and Health Sciences, Macromolecular Structure Analysis, Missense mutation, 2.1 Biological and endogenous factors, Megalencephaly, Aetiology, Child, Genetics (clinical), TOR Serine-Threonine Kinases, Middle Aged, Phenotype, Lipids, Hypotonia, Oncology, Child, Preschool, Female, medicine.symptom, Research Article, Adult, Protein Structure, Intellectual and Developmental Disabilities (IDD), Immunoblotting, Mutation, Missense, Molecular Probe Techniques, Computational biology, Biology, Transfection, Research and Analysis Methods, 03 medical and health sciences, Rare Diseases, Protein Domains, SDG 3 - Good Health and Well-being, Intellectual Disability, medicine, Genetics, Humans, Molecular Biology Techniques, Preschool, Molecular Biology, Ecology, Evolution, Behavior and Systematics, PI3K/AKT/mTOR pathway, Mechanism (biology), Neurosciences, Biology and Life Sciences, Cancers and Neoplasms, Proteins, medicine.disease, Brain Disorders, 030104 developmental biology, Biological Databases, Neurodevelopmental Disorders, Mutation Databases, Mutation, Missense, 030217 neurology & neurosurgery, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2b5021b769fc2c5047eb261278eff5a
https://escholarship.org/uc/item/48x1267f

المؤلفون: Besterman, Aaron, Althoff, Thorsten, Elfferich, Peter, Sonneveld, Mark, Gutierrez-Mejia, Irma, Sadik, Joshua, Bernstein, Jonathan, Kattentidt‐Mouravieva, Anja, van Ierland, Yvette, Nellist, Mark, Abramson, Jeff, Martinez-Agosto, Julian

المصدر: Molecular Genetics and Metabolism ; volume 132, page S107 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/s1096-7192(21)00247-x
https://api.elsevier.com/content/article/PII:S109671922100247X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109671922100247X?httpAccept=text/plain