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Entries: 1-10  
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Investigation of 4q-deletion in two unrelated patients using array CGH
Authors: Kaalund, S. S.; Møller, R. S.; Tészás, A.; Miranda, M.; Kosztolanyi, G.; Ullmann, Reinhard; Tommerup, Niels; Tümer, Z.
Date of Publication (YYYY-MM-DD): 2008-05-28
Title of Journal: American Journal of Medical Genetics : Part A
Volume: 146 A
Issue / Number: 18
Start Page: 2431
End Page: 2434
Document Type: Article
ID: 408379.0
 
Full text / Content available
Mowat-Wilson syndrome: an underdiagnosed syndrome?
Authors: Engenheiro, E; Møller, RS; Pinto, M; Soares, G; Nikanorova, M; Carreira, IM; Ullmann, Reinhard; Tommerup, N.; Tümer, Z.
Date of Publication (YYYY-MM-DD): 2008-02-27
Title of Journal: Clinical Genetics : an International Journal of Genetics and Molecular Medicine
Volume: 73
Issue / Number: 6
Start Page: 579
End Page: 584
Document Type: Article
ID: 407377.0
 
Full text / Content available
Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly
Authors: Erdogan, F.; Belloso, J. M.; Ajbro, K. D.; Guitart, M.; Ropers, Hans Hilger.; Tommerup, N.; Ullmann, Reinhard; Tümer, Z.; Larsen, L. A.
Date of Publication (YYYY-MM-DD): 2008-01-02
Title of Journal: European Journal of Medical Genetics
Volume: 51
Issue / Number: 1
Start Page: 81
End Page: 86
Document Type: Article
ID: 407389.0
Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe.
Authors: Møller, R. S.; Hansen, C. P.; Jackson, G. D.; Ullmann, Reinhard; Ropers, Hans-Hilger; Tommerup, Niels; Tümer, Z.
Date of Publication (YYYY-MM-DD): 2007-12-01
Title of Journal: Clinical Genetics
Volume: 72
Issue / Number: 6
Start Page: 593
End Page: 598
Document Type: Article
ID: 334524.0
 
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Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome
Authors: Engenheiro, E.; Saraiva,, J.; Carreira, I.; Ramos, L.; Ropers, Hans-Hilger; Silva, E.; Tommerup, N.; Tümer, Z.
Date of Publication (YYYY-MM-DD): 2007-07-27
Title of Journal: Clinical Genetics: an International Journal of Genetics in Medicine
Volume: 72
Issue / Number: 5
Start Page: 464
End Page: 470
Document Type: Article
ID: 334006.0
 
Full text / Content available
4q35 deletion and 10p15 duplication associated with immunodeficiency
Authors: Cingoz, S.; Bisgaard, A.M.; Bache, I.; Bryndorf, T.; Kirchoff, M.; Petersen, W.; Ropers, Hans-Hilger; Maas, N.; Van Buggenhout, G.; Tommerup, N.; Tümer, Z.
Date of Publication (YYYY-MM-DD): 2006-09-08
Title of Journal: American Journal of Medical Genetics Part A
Volume: 140
Issue / Number: 20
Start Page: 2231
End Page: 2235
Document Type: Article
ID: 307413.0
 
Full text / Content available
Breakpoints around the HOXD cluster result in various limb malformations
Authors: Dlugaszewska, B.; Silahtaroglu, A.; Menzel, Corinna; Kübart, Sabine; Cohen, M.; Mundlos, Stefan; Tümer, Z.; Kjaer, K.; Friedrich, U.; Ropers, Hans-Hilger; Tommerup, N.; Neitzerl, H.; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2006-02-01
Title of Journal: Journal of Medical Genetics
Volume: 43
Issue / Number: 2
Start Page: 111
End Page: 118
Document Type: Article
ID: 307590.0
 
Full text / Content available
Breakpoints around the HOXD cluster result in various limb malformations
Authors: Dlugaszewska, B.; Silahtaroglu, A.; Menzel, Corinna; Kübart, Sabine; Cohen, M.; Mundlos, Stefan; Tümer, Z.; Kjaer, K.; Friedrich, U.; Ropers, Hans-Hilger; Tommerup, N.; Neitzerl, H.; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2006-02-01
Title of Journal: Journal of Medical Genetics
Volume: 43
Issue / Number: 2
Start Page: 111
End Page: 118
Document Type: Article
ID: 307705.0
 
Full text / Content available
: Eponymous Jacobsen syndrome: mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome
Authors: Tuemer, Z.; Henriksen, A.M.; Bache, I.; Brixen, K.; Kalschauer, Vera M.; Illum, N.; Rasmussen, K.; Larsen, L.A.; Tommerup, N.
Date of Publication (YYYY-MM-DD): 2005-05-10
Title of Journal: American Journal of Medical Genetics : Part A
Volume: 135
Issue / Number: 3
Start Page: 339
End Page: 341
Document Type: Article
ID: 271998.0
 
Full text / Content available
Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients
Authors: Tümer, Z.; Harboe, T.L.; Blennow, E.; Kalscheuer, Vera M.; Tommerup, N.; Brøndum-Nielsen, K.
Date of Publication (YYYY-MM-DD): 2004-09-21
Title of Journal: American Journal of Medical Genetics
Volume: 130A
Issue / Number: 4
Start Page: 340
End Page: 344
Document Type: Article
ID: 225668.0
Entries: 1-10  
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