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Entries: 1-10  
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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
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
 
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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
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2
Authors: Kjaer, K. W.; Eiberg, H.; Hansen, L.; van der Hagen, C. B.; Rosendahl, K.; Tommerup, N.; Mundlos, S.
Date of Publication (YYYY-MM-DD): 2006-03
Title of Journal: Journal of Medical Genetics (London)
Volume: 43
Issue / Number: 3
Start Page: 225
End Page: 231
Document Type: Article
ID: 313087.0
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
Early onset, non-progressive, mild cerebellar ataxia cosegregating with a familial balanced translocation t(8;20)(p22;q13)
Authors: Hertz, J. M.; Sivertsen, B.; Silahtaroglu, A.; Bugge, M.; Kalscheuer, Vera M.; Weber, A.; Wirth, J.; Ropers, Hans-Hilger; Tommerup, N.; Tümer, Z.
Date of Publication (YYYY-MM-DD): 2004-03-01
Title of Journal: Journal of Medical Genetics
Volume: 41
Start Page: e25
End Page: e25
Document Type: Article
ID: 224418.0
Entries: 1-10  
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