13 results on '"Giurgea, Irina"'
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2. The recurrentTCF4missense variant p.( Arg389Cys ) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome
3. Absence of NLRP3 somatic mutations and VEXAS ‐related UBA1 mutations in a large cohort of patients with Schnitzler syndrome
4. The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome
5. Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C
6. Chronic hepatic involvement in the clinical spectrum of A20 haploinsufficiency
7. “ Helicobacter pylori in familial mediterranean fever: A series of 120 patients from literature and from france”
8. The NLRP3 p.A441V Mutation in NLRP3 ‐AID Pathogenesis: Functional Consequences, Phenotype‐Genotype Correlations and Evidence for a Recurrent Mutational Event
9. Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement
10. Acute pancreatitis in paediatric systemic lupus erythematosus
11. Respiratory chain deficiency in a female with Aicardi-Goutières syndrome
12. Acute pancreatitis in paediatric systemic lupus erythematosus
13. De Novo Gain-Of-Function Variations in LYN Associated With an Early-Onset Systemic Autoinflammatory Disorder.
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