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Schabhüttl, Maria
21  results:
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1

Whole exome sequencing in congenital pain insensitivity ide..:

Kurth, Ingo ; Baumgartner, Manuela ; Schabhüttl, Maria...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.  171 (2016)  6 - p. 875-878 , 2016
Link: https://doi.org/10.1002/..
 
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2

Mutation screen reveals novel variants and expands the phen..:

Strickland, Alleene V. ; Schabhüttl, Maria ; Offenbacher, Hans...
Journal of Neurology.  262 (2015)  9 - p. 2124-2134 , 2015
Link: https://doi.org/10.1007/..
 
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3

Erratum: Corrigendum: Transcriptional regulator PRDM12 is e..:

Chen, Ya-Chun ; Auer-Grumbach, Michaela ; Matsukawa, Shinya...
Nature Genetics.  47 (2015)  8 - p. 962-962 , 2015
Link: https://doi.org/10.1038/..
 
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4

Transcriptional regulator PRDM12 is essential for human pai..:

Chen, Ya-Chun ; Auer-Grumbach, Michaela ; Matsukawa, Shinya...
Nature Genetics.  47 (2015)  7 - p. 803-808 , 2015
Link: https://doi.org/10.1038/..
 
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5

A novel missense mutation confirms ATL3 as a gene for hered..:

Fischer, Dirk ; Schabhüttl, Maria ; Wieland, Thomas...
Brain.  137 (2014)  7 - p. e286-e286 , 2014
Link: https://doi.org/10.1093/..
 
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6

Whole-exome sequencing in patients with inherited neuropath..:

Schabhüttl, Maria ; Wieland, Thomas ; Senderek, Jan...
Journal of Neurology.  261 (2014)  5 - p. 970-982 , 2014
Link: https://doi.org/10.1007/..
 
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7

Mutations at Ser331 in the HSN type I gene SPTLC1 are assoc..:

Auer-Grumbach, Michaela ; Bode, Heiko ; Pieber, Thomas R....
European Journal of Medical Genetics.  56 (2013)  5 - p. 266-269 , 2013
Link: https://doi.org/10.1016/..
 
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8

Exome Sequencing Identifies a REEP1 Mutation Involved in Di..:

Beetz, Christian ; Pieber, Thomas R. ; Hertel, Nicole...
The American Journal of Human Genetics.  91 (2012)  1 - p. 139-145 , 2012
Link: https://doi.org/10.1016/..
 
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9

SNP array-based whole genome homozygosity mapping as the fi..:

Fischer, Carina ; Trajanoski, Slave ; Papić, Lea...
Journal of Neurology.  259 (2011)  3 - p. 515-523 , 2011
Link: https://doi.org/10.1007/..
 
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10

Targeted High-Throughput Sequencing Identifies Mutations in..:

Guelly, Christian ; Zhu, Peng-Peng ; Leonardis, Lea...
The American Journal of Human Genetics.  88 (2011)  1 - p. 99-105 , 2011
Link: https://doi.org/10.1016/..
 
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11

Fibulin-5 mutations link inherited neuropathies, age-relate..:

Auer-Grumbach, Michaela ; Weger, Martin ; Fink-Puches, Regina...
Brain.  134 (2011)  6 - p. 1839-1852 , 2011
Link: https://doi.org/10.1093/..
 
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12

SNP-array based whole genome homozygosity mapping: A quick ..:

Papić, Lea ; Fischer, Dirk ; Trajanoski, Slave...
European Journal of Medical Genetics.  54 (2011)  3 - p. 214-219 , 2011
Link: https://doi.org/10.1016/..
 
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13

Rare Variants in MME, Encoding Metalloprotease Neprilysin, ..:

Auer-Grumbach, Michaela ; Toegel, Stefan ; Schabhüttl, Maria...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011077/.  , 2016
Link: http://www.ncbi.nlm.nih...
 
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14

Transcriptional regulator PRDM12 is essential for human pai..:

Chen, Ya-Chun ; Auer-Grumbach, Michaela ; Matsukawa, Shinya...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212047/.  , 2015
Link: http://www.ncbi.nlm.nih...
 
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15

Transcriptional regulator PRDM12 is essential for human pai..:

Chen, Ya-Chun ; Auer-Grumbach, Michaela ; Matsukawa, Shinya...
10614036.  , 2015
Link: https://repository.urosa..
 
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