Lv2
104 积分 2025-06-18 加入
A novel pathogenic variant p.Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton‐Merten syndrome and Aicardi‐Goutières syndrome
1天前
待确认
A case of Singleton–Merten syndrome without cardiac involvement harboring a novel IFIH1 variant
1天前
已完结
Singleton–Merten syndrome: An autosomal dominant disorder with variable expression
1天前
已完结
Neurological Findings and a Brief Review of the Current Literature in a Severe Case of Aicardi-Goutières Syndrome Due to an IFIH1 Mutation
1天前
已完结
Neurological Findings and a Brief Review of the Current Literature in a Severe Case of Aicardi-Goutières Syndrome Due to an IFIH1 Mutation
1天前
已完结
Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights
1天前
已完结
Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights
1天前
已完结
Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism–Epilepsy Phenotype with Macrocephaly
1天前
已完结
De Novo SLC12A2 Variant Presenting as Congenital Hearing Loss With Vestibular Areflexia
1天前
已完结
Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)
1天前
已完结
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