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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

V. L. Gil-da-Silva-Lopes

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2 papers indexed here

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Open access Nov 2026

Unsupervised Phenotypic Stratification of 22q11.2 Deletion Syndrome for Improved Clinical Screening

Objective: 22q11.2 deletion syndrome (22q11DS) is the leading genetic cause of palatal anomalies, presenting a heterogeneous spectrum of clinical manifestations that complicates early diagnosis. No study has systematically investigated the co-occurrence of symptoms spanning cardiovascular, neuropsychiatric, craniofacia...

L. A. Azevedo Soares, D. Domeneghetti de Francisco, V. Gil-da-Silva-Lopes et al. · 0 citations
Case report Open access Oct 2026

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review.

Van Maldergem syndrome (VMLDS) is an ultra-rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes. Fewer than 20 molecularly confirmed cases of VMLDS have bee...

Gabriela Roldão Correia-Costa, Bruna Fagundes Rodrigues Alaite, V. Gil-da-Silva-Lopes et al. · 0 citations

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