 | Up a level |
Journal Article
Borck, Guntram, Hog, Friederike, Dentici, Maria Lisa, Tan, Perciliz L., Sowada, Nadine, Medeira, Ana, Gueneau, Lucie, Thiele, Holger, Kousi, Maria, Lepri, Francesca, Wenzeck, Larissa, Blumenthal, Ian, Radicioni, Antonio, Schwarzenberg, Tito Livio, Mandriani, Barbara 
ORCID: 0000-0002-4139-0602, Fischetto, Rita, Morris-Rosendahl, Deborah J., Altmuller, Janine, Reymond, Alexandre, Nurnberg, Peter, Merla, Giuseppe, Dallapiccola, Bruno ORCID: 0000-0002-5031-1013, Katsanis, Nicholas ORCID: 0000-0002-2480-0171, Cramer, Patrick and Kubisch, Christian ORCID: 0000-0003-4220-0978
(2015).
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Genome Res., 25 (2).
S. 155 - 167.
COLD SPRING HARBOR:
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT.
ISSN 1549-5469
Daud, Shakeela, Kakar, Naseebullah, Goebel, Ingrid, Hashmi, Abu Saeed, Yaqub, Tahir ORCID: 0000-0001-8698-3818, Nuernberg, Gudrun, Nuernberg, Peter, Morris-Rosendahl, Deborah J., Wasim, Muhammad, Volk, Alexander E., Kubisch, Christian ORCID: 0000-0003-4220-0978, Ahmad, Jainil and Borck, Guntram
(2016).
Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia.
Amyotroph. Lateral Scher. Frontotemp. Degenerat., 17 (3-4).
S. 260 - 266.
ABINGDON:
TAYLOR & FRANCIS LTD.
ISSN 2167-9223
Herbst, Saskia M., Proepper, Christiane R., Geis, Tobias, Borggraefe, Ingo, Hahn, Andreas, Debus, Otfried, Haeussler, Martin, von Gersdorff, Gero, Kurlemann, Gerhard, Ensslen, Matthias, Beaud, Nathalie, Budde, Joerg, Gilbert, Michael, Heiming, Ralf, Morgner, Rita, Philippi, Heike, Ross, Sophia, Strobl-Wildemann, Gertrud, Muelleder, Kerstin, Vosschulte, Paul, Morris-Rosendahl, Deborah J., Schuierer, Gerhard and Hehr, Ute (2016). LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs. Brain Dev., 38 (4). S. 399 - 407. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1872-7131
Kakar, Naseebullah, Ahmad, Jamil, Morris-Rosendahl, Deborah J., Altmueller, Janine, Friedrich, Katrin, Barbi, Gotthold, Nuernberg, Peter, Kubisch, Christian ORCID: 0000-0003-4220-0978, Dobyns, William B. and Borck, Guntram
(2015).
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
Hum. Genet., 134 (1).
S. 45 - 52.
NEW YORK:
SPRINGER.
ISSN 1432-1203
Klemann, Christian ORCID: 0000-0002-5639-8690, Pannicke, Ulrich, Morris-Rosendahl, Deborah J., Vlantis, Katerina, Rizzi, Marta, Uhlig, Holm, Vraetz, Thomas, Speckmann, Carsten ORCID: 0000-0002-6217-1556, Strahm, Brigitte, Pasparakis, Manolis ORCID: 0000-0002-9870-0966, Schwarz, Klaus, Ehl, Stephan and Rohr, Jan C.
(2016).
Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency.
Clin. Immunol., 164.
S. 52 - 57.
SAN DIEGO:
ACADEMIC PRESS INC ELSEVIER SCIENCE.
ISSN 1521-7035
Wallmeier, Julia, Frank, Diana, Shoemark, Amelia, Noethe-Menchen, Tabea, Cindric, Sandra, Olbrich, Heike, Loges, Niki T., Aprea, Isabella, Dougherty, Gerard W., Pennekamp, Petra, Kaiser, Thomas ORCID: 0000-0002-6699-0014, Mitchison, Hannah M., Hogg, Claire, Carr, Siobhan B., Zariwala, Maimoona A., Ferkol, Thomas, Leigh, Margaret W., Davis, Stephanie D., Atkinson, Jeffrey, Dutcher, Susan K., Knowles, Michael R., Thiele, Holger, Altmueller, Janine, Krenz, Henrike, Woeste, Marius, Brentrup, Angela, Ahrens, Frank, Vogelberg, Christian, Morris-Rosendahl, Deborah J. and Omran, Heymut
(2019).
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.
Am. J. Hum. Genet., 105 (5).
S. 1030 - 1040.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605