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Your search keyword '"Mafalda Mucciolo"' showing total 13 results

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13 results on '"Mafalda Mucciolo"'

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1. Sulfonylurea-Insensitive Permanent Neonatal Diabetes Caused by a Severe Gain-of-Function Tyr330His Substitution in Kir6.2

2. Next-Generation Sequencing Identifies Different Genetic Defects in 2 Patients with Primary Adrenal Insufficiency and Gonadotropin-Independent Precocious Puberty

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3. Providing more evidence on LZTR1 variants in Noonan syndrome patients

4. Renal Tubular Dysfunction Fully Accounts for Plasma Biochemical Abnormalities in Type 1A Pseudohypoparathyroidism

5. Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism

6. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

7. Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)

8. A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

9. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

10. Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome

11. Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2

12. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

13. 3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age