المؤلفون: Rabin, Rachel, Radmanesh, Alireza, Glass, Ian A., Dobyns, William B., Aldinger, Kimberly A., Shieh, Joseph T., Romoser, Shelby, Bombei, Hannah, Dowsett, Leah, Trapane, Pamela, Bernat, John A., Baker, Janice, Mendelsohn, Nancy J., Popp, Bernt, Siekmeyer, Manuela, Sorge, Ina, Sansbury, Francis Hugh, Watts, Patrick, Foulds, Nicola C., Burton, Jennifer, Hoganson, George, Hurst, Jane A., Menzies, Lara, Osio, Deborah, Kerecuk, Larissa, Cobben, Jan M., Jizi, Khadije, Jacquemont, Sebastien, Belanger, Stacey A., Lohner, Katharina, Veenstra-Knol, Hermine E., Lemmink, Henny H., Keller-Ramey, Jennifer, Wentzensen, Ingrid M., Punj, Sumit, McWalter, Kirsty, Lenberg, Jerica, Ellsworth, Katarzyna A., Radtke, Kelly, Akbarian, Schahram, Pappas, John

المصدر: Rabin , R , Radmanesh , A , Glass , I A , Dobyns , W B , Aldinger , K A , Shieh , J T , Romoser , S , Bombei , H , Dowsett , L , Trapane , P , Bernat , J A , Baker , J , Mendelsohn , N J , Popp , B , Siekmeyer , M , Sorge , I , Sansbury , F H , Watts , P , Foulds , N C , Burton , J , Hoganson , G , Hurst , J A , Menzies , ....

مصطلحات موضوعية: clinical genetics, genotype phenotype, histone modification, neurodevelopmental, SETD2, AUTISM, METHYLATION, MUTATIONS, IDENTIFICATION, HYPB/SETD2, MARK

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/da1c43a6-8e82-46d3-a42e-ee21f8eb9150Test

الإتاحة: https://doi.org/10.1002/ajmg.a.61724Test
https://hdl.handle.net/11370/da1c43a6-8e82-46d3-a42e-ee21f8eb9150Test
https://research.rug.nl/en/publications/da1c43a6-8e82-46d3-a42e-ee21f8eb9150Test
https://pure.rug.nl/ws/files/133476105/Genotype_phenotype_correlation_at_codon_1740_of_SETD2.pdfTest

المؤلفون: Patel, Viraj, Cui, Wei, Cobben, Jan M.

المصدر: American Journal of Medical Genetics. Part A; Mar2023, Vol. 191 Issue 3, p850-854, 5p

المؤلفون: Koot, Bart G.P., Alders, Marielle, Verheij, Joanne, Beuers, Ulrich, Cobben, Jan M.

المصدر: Journal of Hepatology ; volume 64, issue 4, page 974-977 ; ISSN 0168-8278

مصطلحات موضوعية: Hepatology

الإتاحة: https://doi.org/10.1016/j.jhep.2015.11.027Test
https://api.elsevier.com/content/article/PII:S0168827815007850?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S0168827815007850?httpAccept=text/xmlTest

المؤلفون: Meuwissen, Marije E. C., Halley, Dicky J. J., Smit, Liesbeth S., Lequin, Maarten H., Cobben, Jan M., de Coo, Rene, van Harssel, Jeske, Sallevelt, Suzanne, Woldringh, Gwendolyn, van der Knaap, Marjo S., de Vries, Linda S., Mancini, Grazia M. S.

المصدر: Meuwissen , M E C , Halley , D J J , Smit , L S , Lequin , M H , Cobben , J M , de Coo , R , van Harssel , J , Sallevelt , S , Woldringh , G , van der Knaap , M S , de Vries , L S & Mancini , G M S 2015 , ' The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature ' , Genetics in Medicine , vol. 17 , no. 11 , ....

مصطلحات موضوعية: cerebral hemorrhage, COL4A1, COL4A2, familial porencephaly, phenotype

الإتاحة: https://doi.org/10.1038/gim.2014.210Test
https://cris.maastrichtuniversity.nl/en/publications/0a8c2a8e-639d-42ad-b693-79e1416e9e12Test

المؤلفون: van Dijk, Fleur S., Brittain, Helen, Boerma, Ragna, Robert, Marie L., Cobben, Jan M.

المصدر: JAMA Dermatology ; volume 151, issue 6, page 675 ; ISSN 2168-6068

الإتاحة: https://doi.org/10.1001/jamadermatol.2014.4900Test
http://jamanetwork.com/journals/jamadermatology/fullarticle/2089057Test

المؤلفون: van de Laar, Ingrid M B H, van der Linde, Denise, Oei, Edwin H G, Bos, Pieter K, Bessems, Johannes H, Bierma-Zeinstra, Sita M, van Meer, Belle L, Pals, Gerard, Oldenburg, Rogier A, Bekkers, Jos A, Moelker, Adriaan, de Graaf, Bianca M, Matyas, Gabor, Frohn-Mulder, Ingrid M E, Timmermans, Janneke, Hilhorst-Hofstee, Yvonne, Cobben, Jan M, Bruggenwirth, Hennie T, van Laer, Lut, Loeys, Bart, De Backer, Julie, Coucke, Paul J, Dietz, Harry C, Willems, Patrick J, Oostra, Ben A, De Paepe, Anne, Roos-Hesselink, Jolien W, Bertoli-Avella, Aida M, Wessels, Marja W

مصطلحات موضوعية: Phenotypes

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/49/1/47Test; http://dx.doi.org/10.1136/jmedgenet-2011-100382Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2011-100382Test
http://jmg.bmj.com/cgi/content/short/49/1/47Test

المؤلفون: van der Linde, Denise, van de Laar, Ingrid M.B.H., Bertoli-Avella, Aida M., Oldenburg, Rogier A., Bekkers, Jos A., Mattace-Raso, Francesco U.S., van den Meiracker, Anton H., Moelker, Adriaan, van Kooten, Fop, Frohn-Mulder, Ingrid M.E., Timmermans, Janneke, Moltzer, Els, Cobben, Jan M., van Laer, Lut, Loeys, Bart, De Backer, Julie, Coucke, Paul J., De Paepe, Anne, Hilhorst-Hofstee, Yvonne, Wessels, Marja W., Roos-Hesselink, Jolien W.

المساهمون: Research Foundation Flanders, Ghent University

المصدر: Journal of the American College of Cardiology ; volume 60, issue 5, page 397-403 ; ISSN 0735-1097

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الإتاحة: https://doi.org/10.1016/j.jacc.2011.12.052Test
https://api.elsevier.com/content/article/PII:S0735109712012387?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0735109712012387?httpAccept=text/plainTest

المؤلفون: Hilhorst-Hofstee, Yvonne, Hamel, Ben CJ, Verheij, Joke BGM, Rijlaarsdam, Marry EB, Mancini, Grazia MS, Cobben, Jan M, Giroth, Cindy, Ruivenkamp, Claudia AL, Hansson, Kerstin BM, Timmermans, Janneke, Moll, Henriette A, Breuning, Martijn H, Pals, Gerard

المصدر: European Journal of Human Genetics ; volume 19, issue 3, page 247-252 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2010.174Test
http://www.nature.com/articles/ejhg2010174.pdfTest
http://www.nature.com/articles/ejhg2010174Test

المؤلفون: van Dijk, Fleur S., Huizer, Margriet, Kariminejad, Ariana, Marcelis, Carlo L., Plomp, Astrid S., Terhal, Paulien A., Meijers-Heijboer, Hanne, Weiss, Marjan M., van Rijn, Rick R., Cobben, Jan M., Pals, Gerard

المصدر: Genetics in Medicine ; volume 12, issue 11, page 736-741 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1097/gim.0b013e3181f01617Test
https://api.elsevier.com/content/article/PII:S1098360021019730?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021019730?httpAccept=text/plainTest

المؤلفون: Van Dijk, Fleur S, Nesbitt, Isabel M, Nikkels, Peter G J, Dalton, Ann, Bongers, Ernie M H F, van de Kamp, Jiddeke M, Hilhorst-Hofstee, Yvonne, Den Hollander, Nicolette S, Lachmeijer, Augusta M A, Marcelis, Carlo L, Tan-Sindhunata, Gita M B, van Rijn, Rick R, Meijers-Heijboer, Hanne, Cobben, Jan M, Pals, Gerard

المصدر: European Journal of Human Genetics ; volume 17, issue 12, page 1692-1692 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2009.137Test
http://www.nature.com/articles/ejhg2009137.pdfTest
http://www.nature.com/articles/ejhg2009137Test