Diken, Elif; Linke, Matthias; Baumgart, Jan et al.
Superovulation Influences Methylation Reprogramming and Delays Onset of DNA Replication in Both Pronuclei of Mouse ZygotesCYTOGENETIC AND GENOME RESEARCH. Bd. 156. H. 2. 2018 S. 95-105
Komlosi, Katalin; Diederich, Stefan; Fend-Guella, Desiree Lucia et al.
Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disordersORPHANET JOURNAL OF RARE DISEASES. Bd. 13. 2018
Gerber, Tiemo S.; Schad, Arno; Hartmann, Nils et al.
Targeted next-generation sequencing of cancer genes in poorly differentiated thyroid cancerENDOCRINE CONNECTIONS. Bd. 7. H. 1. 2018 S. 47-55
Tranebjaerg, Lisbeth; Strenzke, Nicola; Lindholm, Sture et al.
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementHUMAN GENETICS. Bd. 137. H. 2. 2018 S. 111-127
Tranebjaerg, Lisbeth; Strenzke, Nicola; Lindholm, Sture et al.
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management (vol 137, pg 111, 2018)HUMAN GENETICS. Bd. 137. H. 3. 2018 S. 279-280
De Maria, Beatrice; de Jager, Tresia; Sarubbi, Caitlin et al.
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's ViewMOLECULAR SYNDROMOLOGY. Bd. 8. H. 4. 2017 S. 172-178
Budisteanu, Magdalena; Papuc, Sorina M.; Tutulan-Cunita, Andreea C. et al.
De-novo Williams-Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocationCLINICAL DYSMORPHOLOGY. Bd. 26. H. 3. 2017 S. 187-189
Zechner, Ulrich; Bartsch, Oliver; Iurian, Sorin Ioan
Girl With Ectopia Lentis, and Possibly Marfan Syndrome, caused by a FBN1 Gene MutationEUROPEAN JOURNAL OF PEDIATRICS. Bd. 176. H. 11. 2017 S. 1496-1497
Abdalla, Ebtesam; Bartsch, Oliver; Galetzka, Danuta et al.
Novel Clinical Findings in the First Egyptian Case of Sotos Syndrome Caused by Complete Deletion of the NSD1 GeneAMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 173. H. 4. 2017 S. 1090-1093
Menzel, Lutz; Kleber, Lisa; Friedrich, Carina et al.
Progranulin Protects Against Exaggerated Axonal Injury and Astrogliosis Following Traumatic Brain InjuryGLIA. Bd. 65. H. 2. 2017 S. 278-292