8 results on '"Vreeburg, M"'
Search Results
2. Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion
3. Granulomatous rosacea and Crohnʼs disease in a patient homozygous for the Crohn-associated NOD2/CARD15 polymorphism R702W
4. Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy–Walker malformation
5. Novel EBP gene mutations in Conradi–Hünermann–Happle syndrome
6. Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43
7. Recurring HRAS mutation G12S in Dutch patients with Costello syndrome
8. Myhre Syndrome in a Female With Previously Undescribed Symptoms: Further Delineation of the Phenotype
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.