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X
Kuechler, A.
664  Ergebnisse:
Personensuche X
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1

O09 Bi-allelic variants of FILIP1 cause congenital myopathy..:

Roos, A. ; van der Ven, P. ; Alrohaif, H....
Neuromuscular Disorders.  33 (2023)  - p. S130 , 2023
Link: https://doi.org/10.1016/..
 
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2

NEW GENES AND DISEASES:

Gangfuß, A. ; Czech, A. ; Hentschel, A....
Neuromuscular Disorders.  31 (2021)  - p. S143 , 2021
Link: https://doi.org/10.1016/..
 
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3

Primäres Meningeom des Nervus opticus im Säuglingsalter als..:

Theurer, S. ; Biewald, E. ; Kuchelmeister, K....
Der Pathologe.  40 (2018)  2 - p. 179-184 , 2018
Link: https://doi.org/10.1007/..
 
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4

Severe cognitive impairment and early-onset epilepsy in six..:

Chatron, N. ; Møller, R.S. ; Champaigne, N.L....
European Journal of Paediatric Neurology.  21 (2017)  - p. e194 , 2017
Link: https://doi.org/10.1016/..
 
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5

DYT16 mimics metabolic disease with fever associated beginn..:

Kölbel, H. ; Kuechler, A. ; Strom, T.M....
European Journal of Paediatric Neurology.  21 (2017)  - p. e177 , 2017
Link: https://doi.org/10.1016/..
 
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6

Identification of new TRIP12 variants and detailed clinical..:

Bramswig, Nuria C. ; Lüdecke, H.-J. ; Pettersson, M....
Human Genetics.  136 (2016)  2 - p. 179-192 , 2016
Link: https://doi.org/10.1007/..
 
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7

Beam experiments with the Grenoble test electron cyclotron ..:

Thomae, R. ; Conradie, J. ; Fourie, D....
Review of Scientific Instruments.  87 (2015)  2 - p. , 2015
Link: https://doi.org/10.1063/..
 
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8

Clinical and mutation data in 12 patients with the clinical..:

Czeschik, J. C. ; Voigt, C. ; Alanay, Y....
Human Genetics.  132 (2013)  8 - p. 885-898 , 2013
Link: https://doi.org/10.1007/..
 
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9

First commissioning results with the Grenoble test electron..:

Thomae, R. ; Conradie, J. ; Delsink, H....
Review of Scientific Instruments.  83 (2012)  2 - p. , 2012
Link: https://doi.org/10.1063/..
 
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10

Array-CGH analysis in patients with syndromic and non-syndr..:

Ledig, S. ; Hiort, O. ; Scherer, G....
Human Reproduction.  25 (2010)  10 - p. 2637-2646 , 2010
Link: https://doi.org/10.1093/..
 
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11

Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in..:

Morris-Rosendahl, DJ ; Najm, J ; Lachmeijer, AMA...
Clinical Genetics.  74 (2008)  5 - p. 425-433 , 2008
Link: https://doi.org/10.1111/..
 
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12

Comet Fluorescence in situ Hybridization Analysis for Oxida..:

Glei, M. ; Schaeferhenrich, A. ; Claussen, U....
Toxicological Sciences.  96 (2006)  2 - p. 279-284 , 2006
Link: https://doi.org/10.1093/..
 
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13

Conspicuous GTG‐banding results of the centromere‐near regi..:

Liehr, T. ; Ziegler, M. ; Starke, H....
Clinical Genetics.  64 (2003)  2 - p. 166-167 , 2003
Link: https://doi.org/10.1034/..
 
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14

Putative colon cancer risk factors damage global DNA and TP..:

Schaeferhenrich, A. ; Sendt, W. ; Scheele, J....
Food and Chemical Toxicology.  41 (2003)  5 - p. 655-664 , 2003
Link: https://doi.org/10.1016/..
 
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15

A New Phase Diagram for Fluid Invasion Patterns as a Functi..:

Geistlinger, Helmut ; Golmohammadi, Saeed ; Zulfiqar, Bilal...
Water Resources Research.  60 (2024)  6 - p. , 2024
Link: https://doi.org/10.1029/..
 
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