35 results on '"Severi, Giulia"'
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2. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
3. L’échographie fœtale à Barcelone
4. A New Homozygous CACNB2 Mutation has Functional Relevance and Supports a Role for Calcium Channels in Autism Spectrum Disorder
5. Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East
6. Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene.
7. Supplementary informations and figures from Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q
8. New clinical features in an adult patient with Skraban‐Deardorff syndrome
9. Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders
10. HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations
11. Deletion of 4q13.2q21.1 chromosome and autism spectrum disorder
12. There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss
13. New clinical features in an adult patient with Skraban‐Deardorff syndrome.
14. HDAC9structural variants disruptingTWIST1transcriptional regulation lead to craniofacial and limb malformations
15. Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
16. Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene
17. Whole‐exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late
18. A New Homozygous CACNB2 Mutation has Functional Relevance and Supports a Role for Calcium Channels in Autism Spectrum Disorder
19. A new homozygous CACNB2 mutation has functional relevance and supports a role for calcium channels in autism spectrum disorder
20. L’épée de Damoclès
21. Novel Mutations and Unreported Clinical Features in KBG Syndrome
22. HDAC9structural variants disrupting TWIST1transcriptional regulation lead to craniofacial and limb malformations
23. HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype
24. A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature
25. New patients with Temple syndrome caused by 14q32 deletion: Genotype‐phenotype correlations and risk of thyroid cancer
26. New Patients with Temple Syndrome Caused by 14q32 Deletion: Genotype-Phenotype Correlations and Risk of Thyroid Cancer.
27. There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss.
28. A New Homozygous CACNB2 Mutation has Functional Relevance and Supports a Role for Calcium Channels in Autism Spectrum Disorder
29. A New Homozygous CACNB2 Mutation has Functional Relevance and Supports a Role for Calcium Channels in Autism Spectrum Disorder
30. HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations
31. A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature
32. New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer
33. SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.
34. Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q.
35. HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype.
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