Zeitschriftenartikel (23)

1. 11.
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   Ravindran, E.; Hu, H.; Yuzwa, S. A.; Hernandez-Miranda, L. R.; Kraemer, N.; Ninnemann, O.; Musante, L.; Boltshauser, E.; Schindler, D.; Hübner, A. et al.; Reinecker, H. C.; Ropers, H. H.; Birchmeier, C.; Miller, F. D.; Wienker, T. F.; Hübner, C.; Kaindl, A. M.: Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation. PLoS Genetics 13 (4) (2017)
2. 12.
   MPG.PuRe

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   Hu, H.; Hübner, C.; Lukacs, Z.; Musante, L.; Gill, E.; Wienker, T. F.; Ropers, H. H.; Knierim, E.; Schuelke, M.: Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C). European journal of human genetics 25 (2), S. 253 - 256 (2017)
3. 13.
   MPG.PuRe

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   Iqbal, Z.; Püttmann, L.; Musante, L.; Razzaq, A.; Zahoor, M. Y.; Hu, H.; Wienker, T. F.; Garshasbi, M.; Fattahi, Z.; Gilissen, C. et al.; Vissers, L. E.; de Brouwer, A. P.; Veltman, J. A.; Pfundt, R.; Najmabadi, H.; Ropers, H. H.; Riazuddin, S.; Kahrizi, K.; van Bokhoven, H.: Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration. European journal of human genetics 24 (3), S. 392 - 399 (2016)
4. 14.
   MPG.PuRe

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   Esmaeeli-Nieh, S.; Fenckova, M.; Porter, I. M.; Motazacker, M. M.; Nijhof, B.; Castells-Nobau, A.; Asztalos, Z.; Weissmann, R.; Behjati, F.; Tzschach, A. et al.; Felbor, U.; Scherthan, H.; Sayfati, S. M.; Ropers, H. H.; Kahrizi, K.; Najmabadi, H.; Swedlow, J. R.; Schenck, A.; Kuss, A. W.: BOD1 Is Required for Cognitive Function in Humans and Drosophila. PLoS Genetics 12 (5), e1006022 (2016)
5. 15.
   MPG.PuRe

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   Hartmann, B.; Wai, T.; Hu, H.; MacVicar, T.; Musante, L.; Fischer-Zirnsak, B.; Stenzel, W.; Graf, R.; van den Heuvel, L.; Ropers, H. H. et al.; Wienker, T. F.; Hübner, C.; Langer, T.; Kaindl, A. M.: Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation. eLife 5, e16078 (2016)
6. 16.
   MPG.PuRe

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   Ropers, H. H.; Wienker, T. F.: Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders. European Journal of Medical Genetics 58 (12), S. 715 - 718 (2015)
7. 17.
   MPG.PuRe

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   Heidari, A.; Tongsook, C.; Najafipour, R.; Musante, L.; Vasli, N.; Garshasbi, M.; Hu, H.; Mittal, K.; McNaughton, A. J.; Sritharan, K. et al.; Hudson, M.; Stehr, H.; Talebi, S.; Moradi, M.; Darvish, H.; Arshad Rafiq, M.; Mozhdehipanah, H.; Rashidinejad, A.; Samiei, S.; Ghadami, M.; Windpassinger, C.; Gillessen-Kaesbach, G.; Tzschach, A.; Ahmed, I.; Mikhailov, A.; Stavropoulos, D. J.; Carter, M. T.; Keshavarz, S.; Ayub, M.; Najmabadi, H.; Liu, X.; Ropers, H. H.; Macheroux, P.; Vincent, J. B.: Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability. Human Molecular Genetics 24 (20), S. 5697 - 5710 (2015)
8. 18.
   MPG.PuRe

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   Adegbola, A.; Musante, L.; Callewaert, B.; Maciel, P.; Hu, H.; Isidor, B.; Picker-Minh, S.; Le Caignec, C.; Delle Chiaie, B.; Vanakker, O. et al.; Menten, B.; Dheedene, A.; Bockaert, N.; Roelens, F.; Decaestecker, K.; Silva, J.; Soares, G.; Lopes, F.; Najmabadi, H.; Kahrizi, K.; Cox, G. F.; Angus, S. P.; Staropoli, J. F.; Fischer, U.; Suckow, V.; Bartsch, O.; Chess, A.; Ropers, H. H.; Wienker, T. F.; Hübner, C.; Kaindl, A. M.; Kalscheuer, V. M.: Redefining the MED13L syndrome. European journal of human genetics 23 (10), S. 1308 - 1317 (2015)
9. 19.
   MPG.PuRe

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   Franic, S.; Groen-Blokhuis, M. M.; Dolan, C. V.; Kattenberg, M. V.; Pool, R.; Xiao, X.; Scheet, P. A.; Ehli, E. A.; Davies, G. E.; van der Sluis, S. et al.; Abdellaoui, A.; Hansell, N. K.; Martin, N. G.; Hudziak, J. J.; van Beijsterveldt, C. E.; Swagerman, S. C.; Hulshoff Pol, H. E.; de Geus, E. J.; Bartels, M.; Ropers, H. H.; Hottenga, J. J.; Boomsma, D. I.: Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait. European journal of human genetics 23 (10), S. 1378 - 1383 (2015)
10. 20.
    MPG.PuRe

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    Iqbal, Z.; Willemsen, M. H.; Papon, M. A.; Musante, L.; Benevento, M.; Hu, H.; Venselaar, H.; Wissink-Lindhout, W. M.; Vulto-van Silfhout, A. T.; Vissers, L. E. et al.; de Brouwer, A. P.; Marouillat, S.; Wienker, T. F.; Ropers, H. H.; Kahrizi, K.; Nadif Kasri, N.; Najmabadi, H.; Laumonnier, F.; Kleefstra, T.; van Bokhoven, H.: Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. The American Journal of Human Genetics 96 (3), S. 386 - 396 (2015)