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Entries: 1-5  
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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
CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait
Authors: Türkmen, Seval; Guo, Gao; Garshasbi, Masoud; Hoffmann, Katrin; Alshalah, Amjad J.; Mischung, Claudia; Kuss, Andreas; Humphrey, Nicholas; Mundlos, Stefan; Robinson, Peter N.
Date of Publication (YYYY-MM-DD): 2009-05-22
Title of Journal: PLoS Genetics
Volume: 5
Start Page: e1000487
End Page: e1000487
Document Type: Article
ID: 473612.0
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders
Authors: Michalk1, Anne; Stricker, Sigmar; Becker, Jutta; Rupps, Rosemarie; Pantzar, Tapio; Miertus, Jan; Botta, Giovanni; Naretto, Valeria G.; Janetzki, Catrin; Yaqoob, Nausheen; Ott, Claus-Eric; Seelow, Dominik; Wieczorek, Dagmar; Fiebig, Britta; Wirth, Brunhilde; Hoopmann, Markus; Walther, Marisa; Körber, Friederike; Blankenburg, Markus; Mundlos, Stefan; Heller, Raoul; Hoffmann, Katrin
Date of Publication (YYYY-MM-DD): 2008-02-08
Title of Journal: The American Journal of Human Genetics,
Volume: 82
Issue / Number: 2
Start Page: 464
End Page: 476
Document Type: Article
ID: 411658.0
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
Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly
Authors: Shultz, Leonhard D.; Lyons, Bonnie L.; Burzenski, Lisa M.; Gott, Bruce; Samuels, Rebecca; Schweitzer, Peter A.; Dreger, Christine; Herrmann, Harald; Kalscheuer, Vera; Olins, Ada L.; Olins, Donald E.; Sperling, Karl; Hoffmann, Katrin
Date of Publication (YYYY-MM-DD): 2003-01
Title of Journal: Human Molecular Genetics
Volume: 12
Issue / Number: 1
Start Page: 61
End Page: 69
Document Type: Article
ID: 173613.0
Entries: 1-5  
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