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38 积分 2024-11-15 加入
A de novo missense variant Ser219Pro in PPP2R1A leads to macrocephaly in Houge–Janssens syndrome type 2
12天前
已关闭
Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases
12天前
已完结
Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients
12天前
已完结
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes
15天前
已完结
Lack of association of the 11 beta-hydroxysteroid dehydrogenase type 1 gene 25669dupA polymorphism with obesity and metabolic syndrome
18天前
已完结
Cubilin, a multifunctional epithelial receptor: an overview
18天前
已完结
Spectrin Anastasia (αI/78): a new spectrin variant (α45 Arg Thr) with moderate elliptocytogenic potential
18天前
已完结
Spectrin Tunis (Sp alpha I/78), an elliptocytogenic variant, is due to the CGG----TGG codon change (Arg----Trp) at position 35 of the alpha I domain
19天前
已完结
Expression of spectrin alpha I/65 hereditary elliptocytosis in patients from Brazil
20天前
已关闭
Hereditary elliptocytosis: A novel mutation in the SPTA1 gene and diagnosis after a stroke in paediatric patients. A two‐case report
20天前
已完结
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