المؤلفون: Halgren, Christina, Kjaergaard, Susanne, Bak, Mads, Hansen, Claus, El-Schich, Zahra, Anderson, Claire Marie, Henriksen, Karen Friis, Hjalgrim, Helle, Kirchhoff, Maria, Bijlsma, Emilia, Nielsen, Maartje, den Hollander, Nicolette, Ruivenkamp, Claudia, Isidor, Bertrand, Le Caignec, Cédric, Zannolli, Raffaella, Mucciolo, Mafalda, Renieri, Alessandra, Mari, Francesca, Anderlid, Britt-Marie, Andrieux, Joris, Dieux, Anne, Tommerup, Niels, Bache, Iben

المصدر: Clinical Genetics. 82(3):248-255

مصطلحات موضوعية: ARID1B, autism spectrum disorder, chromosome 6q25, corpus callosum, intellectual disability, next-generation mate-pair sequencing, speech impairment, translocation

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:mau:diva-5351Test
https://doi.org/10.1111/j.1399-0004.2011.01755.xTest
https://mau.diva-portal.org/smash/get/diva2:1402206/FULLTEXT01.pdfTest

المؤلفون: Gilling, Mette, Lauritsen, Marlene Briciet, Møller, Morten, Henriksen, Karen Friis, Vicente, Astrid, Oliveira, Guiomar, Cintin, Christina, Eiberg, Hans, Andersen, Paal Skyt, Mors, Ole, Rosenberg, Thomas, Brøndum-Nielsen, Karen, Cotterill, Rodney M J, Lundsteen, Claes, Ropers, Hans-Hilger, Ullmann, Reinhard, Bache, Iben, Tümer, Zeynep, Tommerup, Niels

المصدر: Gilling , M , Lauritsen , M B , Møller , M , Henriksen , K F , Vicente , A , Oliveira , G , Cintin , C , Eiberg , H , Andersen , P S , Mors , O , Rosenberg , T , Brøndum-Nielsen , K , Cotterill , R M J , Lundsteen , C , Ropers , H-H , Ullmann , R , Bache , I , Tümer , Z & Tommerup , N 2008 , ' A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia. ' ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1038/sj.ejhg.5201985Test
https://curis.ku.dk/portal/da/publications/a-32-mb-deletion-on-18q12-in-a-patient-with-childhood-autism-and-highgrade-myopiaTest(17e73790-84bc-11dd-81b0-000ea68e967b).html
https://curis.ku.dk/ws/files/15790543/t_5_18_.pdfTest

المؤلفون: Nielsen, Jytte Bieber, Henriksen, Karen Friis, Hansen, Claus, Silahtaroglu, Asli, Schwartz, Marianne, Tommerup, Niels

المصدر: European Journal of Human Genetics ; volume 9, issue 3, page 178-184 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/sj.ejhg.5200600Test
http://www.nature.com/articles/5200600.pdfTest
http://www.nature.com/articles/5200600Test

المؤلفون: Hansen, Claus, Henriksen, Karen Friis, Rendtorff, Nanna Dahl, Moestrup, Soren Kragh, Tommerup, Niels

المصدر: Technical Tips Online ; volume 4, issue 1, page 1-3 ; ISSN 1366-2120

الإتاحة: https://doi.org/10.1016/s1366-2120Test(08)70127-2
https://api.elsevier.com/content/article/PII:S1366212008701272?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1366212008701272?httpAccept=text/plainTest

المؤلفون: Gilling, Mette, Lind-Thomsen, Allan, Mang, Yuan, Bak, Mads, Moller, Morten, Ullmann, Reinhard, Kristoffersson, Ulf, Kalscheuer, Vera M., Henriksen, Karen Friis, Bugge, Merete, Tumer, Zeynep, Tommerup, Niels

المصدر: European Journal of Medical Genetics. 54(4):383-388

مصطلحات موضوعية: Mental retardation, Translocation, Inversion, Deletion, Duplication, Biparental inheritance, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

الوصول الحر: https://lup.lub.lu.se/record/2163017Test
http://dx.doi.org/10.1016/j.ejmg.2011.03.008Test

المؤلفون: Nielsen, Mette Gilling, Lind-Thomsen, Allan, Mang, Yuan, Bak, Mads, Møller, Morten, Ullmann, Reinhard, Kristoffersson, Ulf, Kalscheuer, Vera M, Henriksen, Karen Friis, Bugge, Merete, Tümer, Zeynep, Tommerup, Niels

المصدر: Nielsen , M G , Lind-Thomsen , A , Mang , Y , Bak , M , Møller , M , Ullmann , R , Kristoffersson , U , Kalscheuer , V M , Henriksen , K F , Bugge , M , Tümer , Z & Tommerup , N 2011 , ' Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation ' , European Journal of Medical Genetics , vol. 54 , no. 4 , pp. e383-8 . https://doi.org/10.1016/j.ejmg.2011.03.008Test

الإتاحة: https://doi.org/10.1016/j.ejmg.2011.03.008Test
https://curis.ku.dk/portal/da/publications/biparental-inheritance-of-chromosomal-abnormalities-in-male-twins-with-nonsyndromic-mental-retardationTest(de2251e4-99fd-4fe5-8913-64b234b39131).html

المؤلفون: Hansen, Christina Halgren, Kjaergaard, S, Bak, M, Hansen, Claus, Elschich, Zahra, Anderson, Claire Marie, Henriksen, Karen Friis, Hjalgrim, Helle, Kirchhoff, M, Bijlsma, Ek, Nielsen, M, den Hollander, Ns, Ruivenkamp, Cal, Isidor, B, Le Caignec, C, Zannolli, R, Mucciolo, M, Renieri, A, Mari, F, Anderlid, B-M, Andrieux, J, Dieux, A, Tommerup, N, Bache, I

المصدر: Hansen , C H , Kjaergaard , S , Bak , M , Hansen , C , Elschich , Z , Anderson , C M , Henriksen , K F , Hjalgrim , H , Kirchhoff , M , Bijlsma , E , Nielsen , M , den Hollander , N , Ruivenkamp , C , Isidor , B , Le Caignec , C , Zannolli , R , Mucciolo , M , Renieri , A , Mari , F , Anderlid , B-M , Andrieux , J , Dieux , A , Tommerup , N & Bache , ....

الإتاحة: https://doi.org/10.1111/j.1399-0004.2011.01755.xTest
https://curis.ku.dk/portal/da/publications/corpus-callosum-abnormalities-intellectual-disability-speech-impairment-and-autism-in-patients-with-haploinsufficiency-of-arid1bTest(5981df53-348b-4ffc-b7f0-66a19ec0198a).html

المؤلفون: Jørgensen, Jesper Roland, Juliusson, Bengt, Henriksen, Karen Friis, Hansen, Claus, Knudsen, Steen, Petersen, Thomas Nordahl, Blom, Nikolaj, Seiger, Åke, Wahlberg, Lars U.

المصدر: Experimental Neurology ; volume 198, issue 2, page 427-437 ; ISSN 0014-4886

مصطلحات موضوعية: Developmental Neuroscience, Neurology

الإتاحة: https://doi.org/10.1016/j.expneurol.2005.12.023Test
https://api.elsevier.com/content/article/PII:S0014488605004693?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0014488605004693?httpAccept=text/plainTest

المؤلفون: Bak, Mads, Hansen, Claus, Henriksen, Karen Friis, Hansen, Lars, Pakkenberg, H., Eiberg, Hans Rudolf Lytchoff, Tommerup, Niels

المصدر: Bak , M , Hansen , C , Henriksen , K F , Hansen , L , Pakkenberg , H , Eiberg , H R L & Tommerup , N 2004 , ' Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients ' , Brain Research , no. Vol. 126 , pp. 207-211 .

الإتاحة: https://curis.ku.dk/portal/da/publications/mutation-analysis-of-the-sonic-hedgehog-promoter-and-putative-enhancer-elements-in-parkinsons-disease-patientsTest(423da5b0-74c4-11db-bee9-02004c4f4f50).html

المؤلفون: Kjær, Klaus Wilbrandt, Hedeboe, Jess, Bugge, Merete, Hansen, Claus, Henriksen, Karen Friis, Vestergaard, Maria Baeksted, Tommerup, Niels, Opitz, John M

المصدر: Kjær , K W , Hedeboe , J , Bugge , M , Hansen , C , Henriksen , K F , Vestergaard , M B , Tommerup , N & Opitz , J M 2002 , ' HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg ' , American Journal of Medical Genetics. Part C: Seminars in Medical Genetics , vol. 110 , no. 2 , pp. 116-121 . https://doi.org/10.1002/ajmg.10397Test

مصطلحات موضوعية: Alanine, Base Sequence, DNA, DNA Mutational Analysis, Family Health, Female, Genotype, Homeodomain Proteins, Humans, Male, Molecular Sequence Data, Pedigree, Peptides, Polydactyly, Polymorphism, Genetic, Syndactyly, Transcription Factors, Trinucleotide Repeat Expansion

الإتاحة: https://doi.org/10.1002/ajmg.10397Test
https://curis.ku.dk/portal/da/publications/hoxd13-polyalanine-tract-expansion-in-classical-synpolydactyly-type-vordingborgTest(e67c5990-74c5-11db-bee9-02004c4f4f50).html