Gucev, Zoran S.; Tasic, Velibor B.; Saveski, Aleksandar et al.
Tissue-specific mosaicism in a patient with Rubinstein-Taybi syndrome and CREBBP exon 1 duplicationCLINICAL DYSMORPHOLOGY. Bd. 28. H. 3. 2019 S. 140-142
Piard, Juliette; Lespinasse, James; Vlckova, Marketa et al.
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 176. H. 3. 2018 S. 668-675
Borgwardt, Line; Guffon, Nathalie; Amraoui, Yasmina et al.
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trialJOURNAL OF INHERITED METABOLIC DISEASE. Bd. 41. H. 6. 2018 S. 1215-1223
Arnoux, Isabelle; Willam, Michael; Griesche, Nadine et al.
Metformin reverses early cortical network dysfunction and behavior changes in Huntington's diseaseELIFE. Bd. 7. 2018
Ufartes, Roser; Schwenty-Lara, Janina; Freese, Luisa et al.
Sema3a plays a role in the pathogenesis of CHARGE syndromeHUMAN MOLECULAR GENETICS. Bd. 27. H. 8. 2018 S. 1343-1352
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