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1Academic Journal
المؤلفون: Levy, MA, McConkey, H, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Bralo, MP, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, BR, Elting, MW, Faivre, L, Fee, T, Fletcher, RS, Cherik, F, Foroutan, A, Friez, MJ, Gervasini, C, Haghshenas, S, Hilton, BA, Jenkins, Z, Kaur, S, Lewis, S, Louie, RJ, Maitz, S, Milani, D, Morgan, AT, Oegema, R, Østergaard, E, Pallares, NR, Piccione, M, Pizzi, S, Plomp, AS, Poulton, C, Reilly, J, Relator, R, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, GWE, Santos-Simarro, F, Schijns, J, Squeo, GM, St John, M, Thauvin-Robinet, C, Traficante, G, van der Sluijs, PJ, Vergano, SA, Vos, N, Walden, KK, Azmanov, D, Balci, T, Banka, S, Gecz, J, Henneman, P, Lee, JA, Mannens, MMAM, Roscioli, T, Siu, V, Amor, DJ, Baynam, G, Bend, EG, Boycott, K, Brunetti-Pierri, N, Campeau, PM, Christodoulou, J, Dyment, D, Esber, N, Fahrner, JA, Fleming, MD, Genevieve, D, Kerrnohan, KD, McNeill, A, Menke, LA, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, SA, Stevenson, RE, Vitobello, A, Tartaglia, M, Alders, M, Tedder, ML, Sadikovic, B
المصدر: urn:ISSN:2666-2477 ; Human Genetics and Genomics Advances, 3, 1, 100075
مصطلحات موضوعية: Genetics, Brain Disorders, Biotechnology, Human Genome, Clinical Research, Genetic Testing, 2 Aetiology, 4 Detection, screening and diagnosis, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Generic health relevance, Clinical diagnostics, DNA methylation, Epigenetics, Episignatures, Neurodevelopmental disorders
وصف الملف: application/pdf
Relation: http://hdl.handle.net/1959.4/unsworks_78775; https://unsworks.unsw.edu.au/bitstreams/89d9f616-5d1d-48c9-bf65-5ec9d92e2243/download; https://unsworks.unsw.edu.au/bitstreams/dd07773a-6272-4e23-8592-b96422f494dd/download; https://doi.org/10.1016/j.xhgg.2021.100075
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2Academic Journal
المؤلفون: Warnink-Kavelaars, J, de Koning, LE, Rombaut, Lies, Menke, LA, Alsem, MW, van Oers, HA, Buizer, AI, Engelbert, RHH, Oosterlaan, J, Pediatric Heritable Connective Tissue Disorder study, group
المصدر: AMERICAN JOURNAL OF MEDICAL GENETICS PART A ; ISSN: 1552-4825 ; ISSN: 1552-4833
مصطلحات موضوعية: Medicine and Health Sciences, heritable connective tissue disorder, Health-Related Quality of Life, childhood, Loeys-Dietz syndrome, Ehlers-Danlos syndromes, Marfan syndrome
وصف الملف: application/pdf
Relation: https://biblio.ugent.be/publication/01GW1VTB31P8B18BYMEQWV8R18; http://hdl.handle.net/1854/LU-01GW1VTB31P8B18BYMEQWV8R18; http://dx.doi.org/10.1002/ajmg.a.62750; https://biblio.ugent.be/publication/01GW1VTB31P8B18BYMEQWV8R18/file/01GW1W00JKAG2BT7DRRNQSDZ8A
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3Academic Journal
المؤلفون: Melis, D, Carvalho, D, Barbaro-Dieber, T, Espay, AJ, Gambello, MJ, Gener, B, Gerkes, E, Hitzert, MM, Hove, HB, Jansen, S, Jira, PE, Lachlan, K, Menke, LA, Narayanan, V, Ortiz, D, Overwater, E, Posmyk, R, Ramsey, K, de Rossi, A, Sandoval, RL, Stumpel, C, Stuurman, Kyra, Cordeddu, V, Turnpenny, P, Strisciuglio, P, Tartaglia, M, Unger, S, Waters, T, Turnbull, C, Hennekam, RC
المصدر: Melis , D , Carvalho , D , Barbaro-Dieber , T , Espay , AJ , Gambello , MJ , Gener , B , Gerkes , E , Hitzert , MM , Hove , HB , Jansen , S , Jira , PE , Lachlan , K , Menke , LA , Narayanan , V , Ortiz , D , Overwater , E , Posmyk , R , Ramsey , K , de Rossi , A , Sandoval , RL , Stumpel , C , Stuurman , K , Cordeddu , V , Turnpenny , P , Strisciuglio , ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
وصف الملف: application/pdf
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4Academic Journal
المؤلفون: Mulder, PA, van Balkom, IDC, Landlust, AM, Priolo, M, Menke, LA, Acero, IH, Alkuraya, FS, Arias, P, Bernardini, L, Bijlsma, EK, Cole, T, Coubes, C, Dapia, I, Davies, S, Di Donato, N, Elcioglu, NH, Fahrner, JA, Foster, A, González, NG, Huber, I, Iascone, M, Kaiser, A-S, Kamath, A, Kooblall, KG, Lapunzina, P, Liebelt, J, Lynch, SA, Maas, SM, Mammì, C, Mathijssen, IB, McKee, S, Mirzaa, GM, Montgomery, T, Neubauer, D, Neumann, TE, Pintomalli, L, Pisanti, MA, Plomp, AS, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Schanze, D, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Tatton-Brown, K, Tenorio, J, Thakker, RV
Relation: https://ora.ox.ac.uk/objects/uuid:a882a0dc-121b-4d1b-99a5-2fe894bac10c; https://doi.org/10.1111/jir.12787
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5Academic Journal
المؤلفون: Nabais Sá, MJ, Jensik, PJ, McGee, SR, Parker, MJ, Lahiri, N, McNeil, EP, Kroes, HY, Hagerman, RJ, Harrison, RE, Montgomery, T, Splitt, M, Palmer, EE, Sachdev, RK, Mefford, HC, Scott, AA, Martinez-Agosto, JA, Lorenz, R, Orenstein, N, Berg, JN, Amiel, J, Heron, D, Keren, B, Cobben, JM, Menke, LA, Marco, EJ, Graham, JM, Pierson, TM, Karimiani, EG, Maroofian, R, Manzini, MC, Cauley, ES, Colombo, R, Odent, S, Dubourg, C, Phornphutkul, C, de Brouwer, APM, de Vries, BBA, Vulto-vanSilfhout, AT, Palmer, Elizabeth
المصدر: urn:ISSN:1098-3600 ; urn:ISSN:1530-0366 ; Genetics in Medicine, 21, 9, 2059-2069
مصطلحات موضوعية: 31 Biological Sciences, 3105 Genetics, Neurosciences, Clinical Research, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Genetics, 2.1 Biological and endogenous factors, Adolescent, Adult, Alleles, Autistic Disorder, Child, Preschool, DNA-Binding Proteins, Developmental Disabilities, Exome, Female, Genetic Association Studies, Humans, Intellectual Disability, Language Development Disorders, Male, Microcephaly, Mutation, Missense, Transcription Factors, Young Adult, DEAF1, genotype
وصف الملف: application/pdf
Relation: http://purl.org/au-research/grants/nhmrc/APP1114963; http://hdl.handle.net/1959.4/unsworks_61595
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6Academic Journal
المؤلفون: Overwater, E, Marsili, L, Baars, MJH, Baas, AF, van de Beek, I, Dulfer, E, van Hagen, JM, Hilhorst-Hofstee, Y, Kempers, M, Krapels, IP, Menke, LA, Verhagen, Judith, Yeung, KK, Zwijnenburg, PJG, Groenink, M, van Rijn, P, Weiss, MM, Voorhoeve, E, Tintelen, JP, Houweling, AC, Maugeri, A
المصدر: Overwater , E , Marsili , L , Baars , MJH , Baas , AF , van de Beek , I , Dulfer , E , van Hagen , JM , Hilhorst-Hofstee , Y , Kempers , M , Krapels , IP , Menke , LA , Verhagen , J , Yeung , KK , Zwijnenburg , PJG , Groenink , M , van Rijn , P , Weiss , MM , Voorhoeve , E , Tintelen , JP , Houweling , AC & Maugeri , A 2018 , ' Results of next-generation sequencing gene panel diagnostics including copy-number ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
وصف الملف: application/pdf
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7Academic Journal
المؤلفون: Menke, LA, Gardeitchik, T, Hammond, P, Heimdal, KR, Houge, G, Hufnagel, SB, Ji, J, Johansson, S, Kant, SG, Kinning, E, Leon, EL, Newbury-Ecob, R, Paolacci, S, Pfundt, R, Ragge, NK, Rinne, T, Ruivenkamp, C, Saitta, SC, Sun, Y, Tartaglia, M, Terhal, PA, van Essen, AJ, Vigeland, MD, Xiao, B, Hennekam, RC
Relation: https://ora.ox.ac.uk/objects/uuid:2f59879d-be55-4b8a-9811-10cc5f20288e; https://doi.org/10.1002/ajmg.a.38626
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8Academic Journal
المؤلفون: Priolo, M, Schanze, D, Tatton-Brown, K, Mulder, PA, Tenorio, J, Kooblall, K, Acero, IH, Alkuraya, FS, Arias, P, Bernardini, L, Bijlsma, EK, Cole, T, Coubes, C, Dapia, I, Davies, S, Di Donato, N, Elcioglu, NH, Fahrner, JA, Foster, A, González, NG, Huber, I, Iascone, M, Kaiser, A-S, Kamath, A, Liebelt, J, Lynch, SA, Maas, SM, Mammì, C, Mathijssen, IB, McKee, S, Menke, LA, Mirzaa, GM, Montgomery, T, Neubauer, D, Neumann, TE, Pintomalli, L, Pisanti, MA, Plomp, AS, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Valdez, RM, Van Haeringen, A, Van Hagen, JM, Zollino, M, Lapunzina, P, Thakker, RV, Zenker, M, Hennekam, RC
وصف الملف: application/pdf
Relation: https://openaccess.sgul.ac.uk/id/eprint/109924/7/Priolo_et_al-2018-Human_Mutation.pdf; https://openaccess.sgul.ac.uk/id/eprint/109924/1/Priolo_et_al-2018-Human_Mutation.pdf; Priolo, M; Schanze, D; Tatton-Brown, K; Mulder, PA; Tenorio, J; Kooblall, K; Acero, IH; Alkuraya, FS; Arias, P; Bernardini, L; et al. Priolo, M; Schanze, D; Tatton-Brown, K; Mulder, PA; Tenorio, J; Kooblall, K; Acero, IH; Alkuraya, FS; Arias, P; Bernardini, L; Bijlsma, EK; Cole, T; Coubes, C; Dapia, I; Davies, S; Di Donato, N; Elcioglu, NH; Fahrner, JA; Foster, A; González, NG; Huber, I; Iascone, M; Kaiser, A-S; Kamath, A; Liebelt, J; Lynch, SA; Maas, SM; Mammì, C; Mathijssen, IB; McKee, S; Menke, LA; Mirzaa, GM; Montgomery, T; Neubauer, D; Neumann, TE; Pintomalli, L; Pisanti, MA; Plomp, AS; Price, S; Salter, C; Santos-Simarro, F; Sarda, P; Segovia, M; Shaw-Smith, C; Smithson, S; Suri, M; Valdez, RM; Van Haeringen, A; Van Hagen, JM; Zollino, M; Lapunzina, P; Thakker, RV; Zenker, M; Hennekam, RC (2018) Further delineation of Malan syndrome. Hum Mutat, 39 (9). pp. 1226-1237. ISSN 1098-1004 https://doi.org/10.1002/humu.23563 SGUL Authors: Tatton-Brown, Katrina Louise
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9Academic Journal
المؤلفون: Levy MA, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Palomares Bralo M, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Ferilli M, Fletcher RS, Cherick F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Plomp AS, Poulton C, Reilly J, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, John MS, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci TB, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Campion D, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Heron D, Husson T, Kernohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vincent M, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B.
المساهمون: M. Levy, R. Relator, H. Mcconkey, E. Pranckeviciene, J. Kerkhof, M. Barat-Houari, S. Bargiacchi, E. Biamino, M. Palomares Bralo, G. Cappuccio, A. Ciolfi, A. Clarke, B. Dupont, M. Elting, L. Faivre, T. Fee, M. Ferilli, R. Fletcher, F. Cherick, A. Foroutan, M. Friez, C. Gervasini, S. Haghshena, B. Hilton, Z. Jenkin, S. Kaur, S. Lewi, R. Louie, S. Maitz, D. Milani, A. Morgan, R. Oegema, E. Østergaard, N. Pallare, M. Piccione, A. Plomp, C. Poulton, J. Reilly, R. Riu, S. Robertson, K. Rooney, J. Rousseau, G. Santen, F. Santos-Simarro, J. Schijn, G. Squeo, M. John, C. Thauvin-Robinet, G. Traficante, P. van der Sluij, S. Vergano, N. Vo, K. Walden, D. Azmanov, T. Balci, S. Banka, J. Gecz, P. Henneman, J. Lee, M. Mannen, T. Roscioli, V. Siu, D. Amor, G. Baynam, E. Bend, K. Boycott, N. Brunetti-Pierri, P. Campeau, D. Campion, J. Christodoulou, D. Dyment, N. Esber, J. Fahrner, M. Fleming, D. Genevieve, D. Heron, T. Husson, K. Kernohan, A. Mcneill, L. Menke, G. Merla, P. Prontera, C. Rockman-Greenberg, C. Schwartz, S. Skinner, R. Stevenson, M. Vincent, A. Vitobello, M. Tartaglia, M. Alder, M. Tedder, B. Sadikovic
مصطلحات موضوعية: DNA methylation, clinical diagnostic, episignature, neurodevelopmental syndrome, Settore MED/03 - Genetica Medica
Relation: info:eu-repo/semantics/altIdentifier/pmid/35904121; info:eu-repo/semantics/altIdentifier/wos/WOS:000842416800001; volume:43; issue:11; firstpage:1609; lastpage:1628; numberofpages:20; journal:HUMAN MUTATION; https://hdl.handle.net/2434/991312; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136511967
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10Academic Journal
المؤلفون: Nabais Sa MJ, Jensik PJ, McGee SR, Parker MJ, Lahiri N, McNeil EP, Kroes HY, Hagerman RJ, Harrison RE, Montgomery T, Splitt M, Palmer EE, Sachdev RK, Mefford HC, Scott AA, Martinez-Agosto JA, Lorenz R, Orenstein N, Berg JN, Amiel J, Heron D, Keren B, Cobben J-M, Menke LA, Marco EJ, Graham JM, Pierson TM, Karimiani EG, Maroofian R, Manzini MC, Cauley ES, Colombo R, Odent S, Dubourg C, Phornphutkul C, de Brouwer APM, de Vries BBA, Vulto-vanSilfhout AT
المصدر: Genetics in Medicine, 2019
Relation: https://eprints.ncl.ac.uk/256474
الاتاحة: https://eprints.ncl.ac.uk/256474
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11Academic Journal
المؤلفون: Menke LA, van Belzen MJ, Alders M, Cristofoli F, DDD Study, Ehmke N, Fergelot P, Foster A, Gerkes EH, Hoffer MJ, Horn D, Kant SG, Lacombe D, Leon E, Maas SM, Melis D, Muto V, Park SM, Peeters H, Peters DJ, Pfundt R, van Ravenswaaij-Arts CM, Tartaglia M, Hennekam RC.
المساهمون: Menke, La, van Belzen, Mj, Alders, M, Cristofoli, F, Ddd, Study, Ehmke, N, Fergelot, P, Foster, A, Gerkes, Eh, Hoffer, Mj, Horn, D, Kant, Sg, Lacombe, D, Leon, E, Maas, Sm, Melis, D, Muto, V, Park, Sm, Peeters, H, Peters, Dj, Pfundt, R, van Ravenswaaij-Arts, Cm, Tartaglia, M, Hennekam, Rc.
Relation: info:eu-repo/semantics/altIdentifier/pmid/PMID: 27648933; info:eu-repo/semantics/altIdentifier/wos/WOS:000383612200026; volume:170; firstpage:2681; lastpage:2693; numberofpages:13; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; https://hdl.handle.net/11386/4861757; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84988447945