Publikationen von L. Puettmann

L. Puettmann, H. Stehr, M. Garshasbi, H. Hu, K. Kahrizi, B. Lipkowitz, P. Jamali, A. Tzschach, H. Najmabadi, H. H. Ropers, L. Musante, and A. W. Kuss, "A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family," American Journal of Medical Genetics Part A 161A (8), 1915-1922 (2013).

A. W. Kuss, M. Garshasbi, K. Kahrizi, A. Tzschach, F. Behjati, H. Darvish, L. Abbasi-Moheb, L. Puettmann, A. Zecha, R. Weissmann, H. Hu, M. Mohseni, S. S. Abedini, A. Rajab, C. Hertzberg, D. Wieczorek, R. Ullmann, S. Ghasemi-Firouzabadi, S. Banihashemi, S. Arzhangi, V. Hadavi, G. Bahrami-Monajemi, M. Kasiri, M. Falah, P. Nikuei, A. Dehghan, M. Sobhani, P. Jamali, H. H. Ropers, and H. Najmabadi, "Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots," Hum Genet 129 (2), 141-8 (2011).

H. Najmabadi, H. Hu, M. Garshasbi, T. Zemojtel, S. S. Abedini, W. Chen, M. Hosseini, F. Behjati, S. Haas, P. Jamali, A. Zecha, M. Mohseni, L. Puttmann, L. N. Vahid, C. Jensen, L. A. Moheb, M. Bienek, F. Larti, I. Mueller, R. Weissmann, H. Darvish, K. Wrogemann, V. Hadavi, B. Lipkowitz, S. Esmaeeli-Nieh, D. Wieczorek, R. Kariminejad, S. G. Firouzabadi, M. Cohen, Z. Fattahi, I. Rost, F. Mojahedi, C. Hertzberg, A. Dehghan, A. Rajab, M. J. Banavandi, J. Hoffer, M. Falah, L. Musante, V. Kalscheuer, R. Ullmann, A. W. Kuss, A. Tzschach, K. Kahrizi, and H. H. Ropers, "Deep sequencing reveals 50 novel genes for recessive cognitive disorders," Nature 478 (7367), 57-63 (2011).

M. A. Rafiq, A. W. Kuss, L. Puettmann, A. Noor, A. Ramiah, G. Ali, H. Hu, N. A. Kerio, Y. Xiang, M. Garshasbi, M. A. Khan, G. E. Ishak, R. Weksberg, R. Ullmann, A. Tzschach, K. Kahrizi, K. Mahmood, F. Naeem, M. Ayub, K. W. Moremen, J. B. Vincent, H. H. Ropers, M. Ansar, and H. Najmabadi, "Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability," Am J Hum Genet 89 (1), 176-82 (2011).

Andreas Walter Kuss, Masoud Garshasbi, Kimia Kahrizi, Andreas Tzschach, Farkhondeh Behjati, Hossein Darvish, Lia Abbasi-Moheb, Lucia Puettmann, Agnes Zecha, Robert Weißmann, Hao Hu, Marzieh Mohseni, Seyedeh Sedigheh Abedini, Anna Rajab, Christoph Hertzberg, Dagmar Wieczorek, Reinhard Ullmann, Saghar Saghar Ghasemi-Firouzabadi, Susan Banihashemi, Sanaz Arzhangi, Valeh Hadavi, Gholamreza Bahrami-Monajemi, Mahboubeh Kasiri, Masoumeh Falah, Pooneh Nikuei, Atefeh Dehghan, Masoumeh Sobhani, Payman Jamali, Hans-Hilger Ropers, and Hossein Najmabadi, "Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 nvel loci and several mutation hotspots," Human Genetics 129 (2), 141-148 (2010).