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Your search keyword '"Mencarelli, Maria Antonietta"' showing total 19 results

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19 results on '"Mencarelli, Maria Antonietta"'

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1. YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse

2. A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

3. Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

4. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

5. Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features

6. Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor

7. Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation

9. Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology

10. Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability

12. Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA

13. Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

14. 3.2 Mb microdeletion in chromosome 7 bands q22.2–q22.3 associated with overgrowth and delayed bone age

15. Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

16. 14q12 Microdeletion syndrome and congenital variant of Rett syndrome

17. Private inherited microdeletion/microduplications: Implications in clinical practice

18. FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

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