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Entries: 1-6  
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Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.
Authors: Tzschach, Andreas; Bisgaard, Anne-Marie; Kirchhoff, Maria; Graul-Neumann, Luitgard M.; Neitzel, Heidemarie; Page, Stephanie; Ahmed, Alischo; Müller, Ines; Erdogan, Fikret; Ropers, Hans-Hilger; Kalscheuer, Vera M.; Ullmann, Reinhard
Date of Publication (YYYY-MM-DD): 2010-03-01
Title of Journal: European Journal of Human Genetics : EJHG
Volume: 18
Issue / Number: 3
Start Page: 291
End Page: 295
Document Type: Article
ID: 536097.0
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.
Authors: Lugtenberg, Dorien; Zangrande-Vieira, Luiz; Kirchhoff, Maria; Whibley, Annabel C.; Oudakker, Astrid R.; Kjaergaard, Susanne; Vianna-Morgante, Angela M.; Kleefstra, Tjitske; Ruiter, Mariken; Jehee, Fernanda S.; Ullmann, Reinhard; Schwartz, Charles E.; Stratton, Michael; Raymond, F. Lucy; Veltman, Joris A.; Vrijenhoek, Terry; Pfundt, Rolph; Schuurs-Hoeijmakers, Janneke H.M.; Hehir-Kwa, Jayne Y.; Froyen, Guy; Chelly, Jamel; Ropers, Hans-Hilger; Moraine, Claude; Gècz, Jozef; Knijnenburg, Jeroen; Kant, Sarina G.; Hamel, Ben C.J.; Rosenberg, Carla; van Bokhoven, Hans; de Brouwer, Arjan P.M.
Date of Publication (YYYY-MM-DD): 2010-02-10
Title of Journal: American Journal of Medical Genetics. Part A.
Volume: 152A
Issue / Number: 3
Start Page: 638
End Page: 645
Document Type: Article
ID: 533727.0
 
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Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation
Authors: Ullmann, Reinhard; Turner, Gillian; Kirchhoff, Maria; Chen, Wei; Tonge, Bruce; Rosenberg, Carla; Field, Michael; Vianna-Morgante, Angela M.; Christie, Louise; Krepischi-Santos, Ana C.; Banna, Lynn; Brereton, Avril V.; Hill, Alyssa; Bisgaard, Anne-Marie; Müller, Ines; Hultschig, Claus; Erdogan, Fikret; Wieczorek, Georg; Ropers, Hans-Hilger
Date of Publication (YYYY-MM-DD): 2007-05-04
Title of Journal: Human Mutation : Variation, Databases, and Disease
Volume: 28
Issue / Number: 7
Start Page: 674
End Page: 682
Document Type: Article
ID: 334809.0
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation
Authors: Ullmann, Reinhard; Turner, Gillian; Kirchhoff, Maria; Chen, Wei; Tonge, Bruce; Rosenberg, Carla; Field, Michael; Vianna-Morgante, Angela M.; Christie, Louise; Krepischi-Santos, Ana C.; Banna, Lynn; Brereton, Avril V.; Hill, Alyssa; Bisgaard, Anne-Marie; Müller, Ines; Hultschig, Claus; Erdogan, Fikret; Wieczorek, Georg; Ropers, Hans-Hilger
Date of Publication (YYYY-MM-DD): 2007-05-04
Title of Journal: Human Mutation : Variation, Databases, and Disease
Volume: 28
Issue / Number: 7
Document Type: Article
ID: 335950.0
 
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Transmitted cytogenetic abnormalities in patients with mental retardation: Pathogenic or normal variants?
Authors: Bisgaard, Anne-Marie; Kirchhoff, Maria; Nielsen, Jens Erik; Brandt, Carsten; Hove, Hanne; Jepsen, Birgit; Jensen, Tim; Ullmann, Reinhard; Skovby, Flemming
Date of Publication (YYYY-MM-DD): 2007-04-14
Title of Journal: European Journal of Medical Genetics
Volume: 50
Issue / Number: 4
Start Page: 243
End Page: 255
Document Type: Article
ID: 333760.0
 
Full text / Content available
Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome
Authors: Belloso, Jose M; Bache, Iben; Guitart, Miriam; Caballin, Maria Rosa; Halgren, Christina; Kirchhoff, Maria; Ropers, Hans-Hilger; Tommerup, Niels; Tümer, Zeynep
Date of Publication (YYYY-MM-DD): 2007-03-28
Title of Journal: European Journal og Human Genetics : EJHG ; the Official Journal of the European Society of Human Genetics
Volume: 15
Issue / Number: 6
Start Page: 711
End Page: 713
Document Type: Article
ID: 333751.0
 
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Entries: 1-6  
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