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Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease. [electronic resource] by
- Synofzik, Matthis
- Born, Christoph
- Rominger, Axel
- Lummel, Nina
- Schöls, Ludger
- Biskup, Saskia
- Schüle, Cornelius
- Grasshoff, Ute
- Klopstock, Thomas
- Adamczyk, Christopher
Producer: 20141006
In:
Neurobiology of aging vol. 35
Availability: No items available.
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9.
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Novel [electronic resource] by
- Park, Joohyun
- Colombo, Roberto
- Schäferhoff, Karin
- Janiri, Luigi
- Grimmel, Mona
- Sturm, Marc
- Grasshoff, Ute
- Dufke, Andreas
- Haack, Tobias B
- Kehrer, Martin
Publication details: Molecular syndromology Jul 2019
In:
Molecular syndromology vol. 10
Availability: No items available.
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10.
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A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease onset and gender-specific instability of CAG repeats. [electronic resource] by
- Boy, Jana
- Schmidt, Thorsten
- Schumann, Ulrike
- Grasshoff, Ute
- Unser, Samy
- Holzmann, Carsten
- Schmitt, Ina
- Karl, Tim
- Laccone, Franco
- Wolburg, Hartwig
- Ibrahim, Saleh
- Riess, Olaf
Producer: 20100615
In:
Neurobiology of disease vol. 37
Availability: No items available.
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11.
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Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia. [electronic resource] by
- Endris, Volker
- Hackmann, Karl
- Neuhann, Teresa M
- Grasshoff, Ute
- Bonin, Michael
- Haug, Ulrich
- Hahn, Gabriele
- Schallner, Jens C
- Schröck, Evelin
- Tinschert, Sigrid
- Rappold, Gudrun
- Moog, Ute
Producer: 20110204
In:
American journal of medical genetics. Part A vol. 152A
Availability: No items available.
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12.
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Genome-wide UPD screening in patients with intellectual disability. [electronic resource] by
- Schroeder, Christopher
- Ekici, Arif Bülent
- Moog, Ute
- Grasshoff, Ute
- Mau-Holzmann, Ulrike
- Sturm, Marc
- Vosseler, Vanessa
- Poths, Sven
- Rappold, Gudrun
- Riess, Angelika
- Riess, Olaf
- Dufke, Andreas
- Bonin, Michael
Producer: 20150611
In:
European journal of human genetics : EJHG vol. 22
Availability: No items available.
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13.
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None [electronic resource] by
- Park, Joohyun
- Flores, Bianca R
- Scherer, Katalin
- Kuepper, Hanna
- Rossi, Mari
- Rupprich, Katrin
- Rautenberg, Maren
- Deininger, Natalie
- Weichselbaum, Annette
- Grimm, Alexander
- Sturm, Marc
- Grasshoff, Ute
- Delpire, Eric
- Haack, Tobias B
Producer: 20210204
In:
Journal of medical genetics vol. 57
Availability: No items available.
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14.
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De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation. [electronic resource] by
- Grasshoff, Ute
- Bonin, Michael
- Goehring, Ina
- Ekici, Arif
- Dufke, Andreas
- Cremer, Kirsten
- Wagner, Nicholas
- Rossier, Eva
- Jauch, Anna
- Walter, Michael
- Bauer, Claudia
- Bauer, Peter
- Horber, Karl
- Beck-Woedl, Stefanie
- Wieczorek, Dagmar
Producer: 20110801
In:
European journal of human genetics : EJHG vol. 19
Availability: No items available.
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15.
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Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. [electronic resource] by
- Grzeschik, Karl-Heinz
- Bornholdt, Dorothea
- Oeffner, Frank
- König, Arne
- del Carmen Boente, María
- Enders, Herbert
- Fritz, Barbara
- Hertl, Michael
- Grasshoff, Ute
- Höfling, Katja
- Oji, Vinzenz
- Paradisi, Mauro
- Schuchardt, Christian
- Szalai, Zsuzsanna
- Tadini, Gianluca
- Traupe, Heiko
- Happle, Rudolf
Producer: 20070904
In:
Nature genetics vol. 39
Availability: No items available.
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16.
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Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. [electronic resource] by
- Zweier, Markus
- Gregor, Anne
- Zweier, Christiane
- Engels, Hartmut
- Sticht, Heinrich
- Wohlleber, Eva
- Bijlsma, Emilia K
- Holder, Susan E
- Zenker, Martin
- Rossier, Eva
- Grasshoff, Ute
- Johnson, Diana S
- Robertson, Lisa
- Firth, Helen V
- Ekici, Arif B
- Reis, André
- Rauch, Anita
Producer: 20100927
In:
Human mutation vol. 31
Availability: No items available.
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17.
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First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications. [electronic resource] by
- Löffler, Markus W
- Steinhilber, Julia
- Hilke, Franz J
- Haen, Sebastian P
- Bösmüller, Hans
- Montes-Mojarro, Ivonne-Aidee
- Bonzheim, Irina
- Stäbler, Antje
- Faust, Ulrike
- Grasshoff, Ute
- Königsrainer, Ingmar
- Rammensee, Hans-Georg
- Kanz, Lothar
- Königsrainer, Alfred
- Beckert, Stefan
- Riess, Olaf
- Schroeder, Christopher
Producer: 20190415
In:
BMC medical genetics vol. 19
Availability: No items available.
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18.
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A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL. [electronic resource] by
- Haemmerling, Susanne
- Behnisch, Wolfgang
- Doerks, Tobias
- Korbel, Jan O
- Bork, Peer
- Moog, Ute
- Hentze, Sabine
- Grasshoff, Ute
- Bonin, Michael
- Rieß, Olaf
- Janssen, Johannes W G
- Jauch, Anna
- Bartram, Claus R
- Reinhardt, Dirk
- Koch, Karin A
- Bandapalli, Obul R
- Kulozik, Andreas E
Producer: 20120522
In:
British journal of haematology vol. 157
Availability: No items available.
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19.
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Mapping translocation breakpoints by next-generation sequencing. [electronic resource] by
- Chen, Wei
- Kalscheuer, Vera
- Tzschach, Andreas
- Menzel, Corinna
- Ullmann, Reinhard
- Schulz, Marcel Holger
- Erdogan, Fikret
- Li, Na
- Kijas, Zofia
- Arkesteijn, Ger
- Pajares, Isidora Lopez
- Goetz-Sothmann, Margret
- Heinrich, Uwe
- Rost, Imma
- Dufke, Andreas
- Grasshoff, Ute
- Glaeser, Birgitta
- Vingron, Martin
- Ropers, H Hilger
Producer: 20080916
In:
Genome research vol. 18
Availability: No items available.
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20.
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Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. [electronic resource] by
- Kuechler, Alma
- Czeschik, Johanna Christina
- Graf, Elisabeth
- Grasshoff, Ute
- Hüffmeier, Ulrike
- Busa, Tiffany
- Beck-Woedl, Stefanie
- Faivre, Laurence
- Rivière, Jean-Baptiste
- Bader, Ingrid
- Koch, Johannes
- Reis, André
- Hehr, Ute
- Rittinger, Olaf
- Sperl, Wolfgang
- Haack, Tobias B
- Wieland, Thomas
- Engels, Hartmut
- Prokisch, Holger
- Strom, Tim M
- Lüdecke, Hermann-Josef
- Wieczorek, Dagmar
Producer: 20170705
In:
European journal of human genetics : EJHG vol. 25
Availability: No items available.
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