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Entries: 1-8  
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Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 nvel loci and several mutation hotspots
Authors: Kuss, Andreas Walter; Garshasbi, Masoud; Kahrizi, Kimia; Tzschach, Andreas; Behjati, Farkhondeh; Darvish, Hossein; Abbasi-Moheb, Lia; Puettmann, Lucia; Zecha, Agnes; Weißmann, Robert; Hu, Hao; Mohseni, Marzieh; Abedini, Seyedeh Sedigheh; Rajab, Anna; Hertzberg, Christoph; Wieczorek, Dagmar; Ullmann, Reinhard; Saghar Ghasemi-Firouzabadi, Saghar; Banihashemi, Susan; Arzhangi, Sanaz; Hadavi, Valeh; Bahrami-Monajemi, Gholamreza; Kasiri, Mahboubeh; Falah, Masoumeh; Nikuei, Pooneh; Dehghan, Atefeh; Sobhani, Masoumeh; Jamali, Payman; Ropers, Hans-Hilger; Najmabadi, Hossein
Date of Publication (YYYY-MM-DD): 2010-11-09
Title of Journal: Human Genetics
Volume: 129
Issue / Number: 2
Start Page: 141
End Page: 148
Document Type: Article
ID: 533429.0
 
Full text / Content available
High-throughput sequencing of microdissected chromosomal regions.
Authors: Weise, Anja; Timmermann, Bernd; Grabherr, Manfred; Werber, Martin; Heyn, Patricia; Kosyakova, Nadezdaa; Liehr, Thomas; Neitzel, Heidemarie; Konrat, Kateryna; Bommer, Christiane; Dietrich, Carola; Rajab, Anna; Reinhardt, Richard; Mundlos, Stefan; Lindner, Tom H.; Hoffmann, Katrin
Date of Publication (YYYY-MM-DD): 2009-11-04
Title of Journal: European Journal of Human Genetics
Sequence Number of Article: ejhg.2009.196
Document Type: Article
ID: 460797.0
 
Full text / Content available
A gradient of ROR2 protein stability and membrane
localization confers brachydactyly type B or Robinow syndrome phenotypes
Authors: Schwarzer, Wibke; Witte, Florian; Rajab, Anna; Mundlos, Stefan; Stricker, Sigmar
Date of Publication (YYYY-MM-DD): 2009-11
Title of Journal: Human Molecular Genetics
Volume: 18
Issue / Number: 21
Start Page: 4013
End Page: 4021
Document Type: Article
ID: 456438.0
Mutations in PYCR1 cause cutis laxa with progeroid features
Authors: Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Björn; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hülya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D.; Schmidt-von Kegler, Mareen; Merriman, Barry; Nelson, Stanley F.; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R.; Steichen, Elisabeth; Sillence, David; Haußer, Ingrid; Budde, Birgit; Nürnberg, Gudrun; Nürnberg, Peter; Seemann, Petra; Kunkel, Désirée; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe
Date of Publication (YYYY-MM-DD): 2009-09
Title of Journal: Nature Genetics
Volume: 41
Start Page: 1016
End Page: 1021
Document Type: Article
ID: 447542.0
Geroderma osteodysplasticum and wrinkly skin syndrome in 22 patients from Oman
Authors: Rajab, Anna; Kornak, U.; Budde, B. S.; Hoffmann, K.; Jaeken, J.; Nürnberg, P.; Mundlos, S.
Date of Publication (YYYY-MM-DD): 2008-05-17
Title of Journal: American Journal of Medical Genetics Part A
Volume: 146A
Issue / Number: 8
Start Page: 965
End Page: 976
Document Type: Article
ID: 411669.0
 
Full text / Content available
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
Authors: Kornak, Uwe; Reynders, Ellen; Dimopoulou, Aikaterini; van Reeuwijk, Jeroen; Fischer, Bjoern; Rajab, Anna; Budde, Birgit; Nürnberg, Peter; Foulquier, Francois; Lefeber, Dirk; Urban, Zsolt; Gruenewald, Stephanie; Annaert, Wim; Brunner, Han G; van Bokhoven, Hans; Wevers, Ron; Morava, Eva; Matthijs, Gert; Van Maldergem, Lionel; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2008-01
Title of Journal: Nature Genetics
Volume: 40
Issue / Number: 1
Start Page: 32
End Page: 34
Document Type: Article
ID: 411701.0
 
Full text / Content available
Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit
Authors: Hoffmann, Katrin; Müller, Juliane S.; Stricker, Sigmar; Megarbane, Andre; Rajab, Anna; Lindner, Tom H.; Cohen, Monika; Chouery, Eliane; Adaimy, Lynn; Ghanem, Ismat; Delague, Valerie; Boltshauser, Eugen; Talim, Beril; Horvath, Rita; Robinson, Peter N.; Lochmüller, Hanns; Hübner, Christoph; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2006-08
Title of Journal: American Journal of Human Genetics (Chicago, IL)
Volume: 79
Issue / Number: 2
Start Page: 303
End Page: 312
Document Type: Article
ID: 313086.0
 
Full text / Content available
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement
Authors: Thiele, Holger; Sakano, Masahiro; Kitagawa, Hiroshi; Sugahara, Kazuyuki; Rajab, Anna; Höhne, Wolfgang; Ritter, Heide; Leschik, Gundula; Nürnberg, Peter; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2004-07-06
Title of Journal: Proceedings of the National Academy of Sciences
Volume: 101
Issue / Number: 27
Start Page: 10155
End Page: 10160
Document Type: Article
ID: 228878.0
Entries: 1-8  
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