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Journal of Investigative Dermatology, ISSN 0022-202X, 08/2013, Volume 133, Issue 8, pp. 1990 - 1997
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 01/2007, Volume 39, Issue 1, pp. 86 - 92
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2009, Volume 85, Issue 2, pp. 248 - 253
Journal Article
Human Mutation, ISSN 1059-7794, 07/2019, Volume 40, Issue 7, pp. 899 - 903
Biallelic and pathogenic variants in the RTTN gene, encoding the centrosomal protein Rotatin, are associated with variable degrees of neurodevelopmental... 
microcephaly | brachydactyly | RTTN | exon skipping | Rotatin | gene variant | RTTN gene variant | MALFORMATIONS | GENETICS & HEREDITY | Dwarfism | Microencephaly | Leukocyte migration | Magnetic resonance imaging | Neurodevelopmental disorders | Microcephaly | Cell migration | Brachydactyly | Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 04/2013, Volume 34, Issue 4, pp. 572 - 577
Journal Article
Annals of Neurology, ISSN 0364-5134, 09/2015, Volume 78, Issue 3, pp. 412 - 425
Journal Article
Stem Cell Research, ISSN 1873-5061, 07/2019, Volume 38, pp. 101474 - 101474
Von Hippel-Lindau (VHL) syndrome is a familial cancer syndrome caused by mutations in the tumor suppressor gene . We generated human iPSC lines from primary... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CELL & TISSUE ENGINEERING | CELL BIOLOGY
Journal Article
Journal Article
Molecular neurobiology, ISSN 0893-7648, 04/2019, pp. 1 - 15
Down syndrome (DS) or trisomy 21 (T21) is a leading genetic cause of intellectual disability. To gain insights into dynamics of molecular perturbations during... 
Brain | Phosphorylation | Transcription factors | Trisomy | Fetuses