20 results on '"Modamio-Høybjør, Silvia"'
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2. Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects.
3. Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1‐related.
4. Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1‐related
5. Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13 ‐related: Description of 11 further cases
6. Precocious puberty and anal stenosis in an African patient with Rothmund–Thomson syndrome
7. Precocious puberty and anal stenosis in an African patient with Rothmund–Thomson syndrome.
8. High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies
9. Short stature and scoliosis: revealing signs of ultrarare skeletal dysplasia
10. Talla baja y escoliosis: datos reveladores de displasia esquelética ultrarrara
11. Characterization of a Spontaneous, Recessive, Missense Mutation Arising in the Tecta Gene
12. A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression
13. A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28–29
14. In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment
15. Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing
16. PP-15 CYSTIC FIBROSIS SCREENING TO OPTIMISE EGG AND SPERM DONOR SELECTION
17. Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss
18. A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression
19. A Mutation in CCDC50, a Gene Encoding an Effector of Epidermal Growth Factor–Mediated Cell Signaling, Causes Progressive Hearing Loss
20. Differential Biological Role of CD3 Chains Revealed by Human Immunodeficiencies
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