16 results on '"Gelmini, Chiara"'
Search Results
2. Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes
3. Complex cranio-vertebral malformation: disruption sequence or iniencephaly?
4. Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci
5. Focal dermal hypoplasia (goltz–gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly
6. Epilepsy in Mowat–Wilson syndrome: Delineation of the electroclinical phenotype
7. Simpson–Golabi–Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia
8. Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: Genetic homogeneity and nosological delineation
9. Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding
10. Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes
11. Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome: Recommendations for clinical management
12. Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome: Recommendations for clinical management.
13. Multiple sulfatase deficiency with neonatal manifestation
14. Incontinentia Pigmenti: Learning Disabilities Are a Fundamental Hallmark of the Disease
15. Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in thePORCNgene (c.1250T>C:p.F417S) and unusual spinal anomaly
16. Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: Genetic homogeneity and nosological delineation
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