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Entries: 1-8  
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Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius
Authors: Klopocki, Eva; Schulze, Harald; Strauß, Gabriele; Ott, Claus-Eric; Hall, Judith; Trotier, Fabienne; Fleischhauer, Silke; Greenhalgh, Lynn; Newbury-Ecob, Ruth A.; Neumann, Luitgard M.; Habenicht, Rolf; König, Rainer; Seemanova, Eva; Megarbane, André; Ropers, Hans-Hilger; Ullmann, Reinhard; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2007-02-01
Title of Journal: American Journal of Human Genetics : AJHG / American Society of Human Genetics
Volume: 80
Issue / Number: 2
Start Page: 232
End Page: 240
Document Type: Article
ID: 334122.0
 
Full text / Content available
Mutations in Autism Susceptibility Candidate 2 (AUTS2) in patients with mental retardation
Authors: Kalscheuer, Vera M.; FitzPatrick, David; Tommerup, Niels; Bugge, Merete; Niebuhr, Erik; Neumann, Luitgard M.; Tzschach, Andreas; Shoichet, Sarah A.; Menzel, Corinna; Erdogan, Fikret; Arkesteijn, Ger; Ropers, Hans-Hilger; Ullmann, Reinhard
Date of Publication (YYYY-MM-DD): 2007-01-09
Title of Journal: Human Genetics
Volume: 121
Issue / Number: 3-4
Start Page: 501
End Page: 509
Document Type: Article
ID: 334101.0
 
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Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene
Authors: Klopocki, Eva; Neumann, Luitgard M.; Tönnies, Holger; Ropers, Hans-Hilger; Mundlos, Stefan; Ullmann, Reinhard
Date of Publication (YYYY-MM-DD): 2006-12-01
Title of Journal: European Journal of Human Genetics : the Official Journal of the European Society of Human Genetics.
Volume: 14
Issue / Number: 121
Start Page: 1274
End Page: 1279
Document Type: Article
ID: 307698.0
 
Full text / Content available
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene
Authors: Klopocki, Eva; Neumann, Luitgard M.; Tönnies, Holger; Ropers, Hans-Hilger; Mundlos, Stefan; Ullmann, Reinhard
Date of Publication (YYYY-MM-DD): 2006-12-01
Title of Journal: European Journal of Human Genetics : the Official Journal of the European Society of Human Genetics.
Volume: 14
Issue / Number: 121
Start Page: 1274
End Page: 1279
Document Type: Article
ID: 307703.0
 
Full text / Content available
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome
Authors: Bartsch, Oliver; Rasi, Sasan; Delicado, Alicia; Dyack, Sarah; Neumann, Luitgard M.; Seemanová, Eva; Volleth, Marianne; Haaf, Thomas; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2006-06-17
Title of Journal: Human Genetics
Volume: 120
Issue / Number: 3
Start Page: 179
End Page: 186
Document Type: Article
ID: 307322.0
 
Full text / Content available
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes
Authors: Tuerkmen, Seval; Gillessen-Kaesbach, Gabriele; Meinecke, Peter; Albrecht, Beate; Neumann, Luitgard M.; Hesse, Volker; Palanduz, Suekrue; Balg, Stefanie; Majewski, Frank; Fuchs, Sigrun; Zschieschang, Petra; Greiwe, Monika; Mennicke, Kirsteen; Kreuz, Friedmar R.; Dehmel, Harald J.; Rodeck, Burkhard; Kunze, Juergen; Tinschert, Sigrid; Mundlos, Stefan; Horn, Denise
Date of Publication (YYYY-MM-DD): 2003-11
Title of Journal: European Journal of Human Genetics
Volume: 11
Issue / Number: 11
Start Page: 858
End Page: 865
Document Type: Article
ID: 175489.0
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies
Authors: Katzke, Stefanie; Booms, Patrick; Tiecke, Frank; Palz, Monika; Pletschacher, Angelika; Türkmen, Seval; Neumann, Luitgard M.; Pregla, Reinhard; Leitner, Christa; Schramm, Cornelia; Lorenz, Peter; Hagemeier, Christian; Fuchs, Josefine; Skovby, Flemming; Rosenberg, Thomas; Robinson, Peter N.
Date of Publication (YYYY-MM-DD): 2002-08-21
Title of Journal: Human Mutation
Volume: 20
Issue / Number: 3
Start Page: 197
End Page: 208
Document Type: Article
ID: 24751.0
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies
Authors: Robinson, Peter N.; Booms, Patrick; Katzke, Stefanie; Ladewig, Markus; Neumann, Luitgard M.; Palz, Monika; Pregla, Reinhard; Tiecke, Frank; Rosenberg, Thomas
Date of Publication (YYYY-MM-DD): 2002-08-21
Title of Journal: Human Mutation
Volume: 20
Issue / Number: 3
Start Page: 153
End Page: 161
Document Type: Article
ID: 25649.0
Entries: 1-8  
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