11 results on '"Hinderhofer, Katrin"'
Search Results
2. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy
3. Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects
4. Duplication Xp11.22-p14 in Females: Does X-inactivation Help in Assessing their Significance?
5. 3p25.3 Microdeletion of GABA Transporters SLC6A1 and SLC6A11 Results in Intellectual Disability, Epilepsy and Stereotypic Behavior
6. Mosaic Deletion of EXOC6B: Further Evidence for An Important Role of the Exocyst Complex in the Pathogenesis of Intellectual Disability
7. The phenotypic spectrum of duplication 5q35.2–q35.3 encompassing NSD1: Is it really a reversed sotos syndrome?
8. Modified body mass index and time interval between diagnosis and operation affect survival after liver transplantation for hereditary amyloidosis: a single-center analysis
9. Ornithine transcarbamylase (OTC) deficiency based on a hemizygous p.R277W mutation causing life-threatening hyperammonemic crisis during treatment for Hodgkinʼs lymphoma
10. Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature
11. Specific association of a small protein with the telomeric DNA-protein complex during the onset of leaf senescence in Arabidopsis thaliana
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.