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Genotype impacts survival in Marfan syndrome
5小时前
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A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine
4天前
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A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine
4天前
已完结
The spectrum of SCN1A-related infantile epileptic encephalopathies
6天前
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A novel frameshift variant in PURA syndrome: role of NMD pathway in disease mechanism
7天前
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Neurosurgical Management of Rubinstein-Taybi Syndrome: An Institutional Experience
11天前
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[CREBBP gene mutation in two boys with Rubinstein-Taybi syndrome]
11天前
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Developmental and Epileptic Encephalopathies: Need for Bridging the Gaps Between Clinical Syndromes and Underlying Genetic Etiologies
12天前
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Ten novel Diamond–Blackfan anemia mutations and three polymorphisms within the rps19 gene
14天前
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Mutation analysis in 46 German families with familial hypercholesterolemia: Identification of 8 new mutations
15天前
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Contractile Peripapillary Staphyloma
4个月前
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Major Depression and Generalized Anxiety Disorder
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Chronic Spontaneous Urticaria: How to Assess Quality of Life in Patients Receiving Treatment
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Comparison of Central Nervous System Adverse Effects of Amantadine and Rimantadine Used as Sequential Prophylaxis of Influenza A in Elderly Nursing Home Patients
4个月前
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The Costs and Effects of Laparoscopic Appendectomy in Children
4个月前
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The computerized medical record: the next frontier
4个月前
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The Halo Nevus
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Axon Outgrowth Enhanced by a Previous Nerve Injury
4个月前
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Disulfiram-Induced Encephalopathy
4个月前
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Numerical study of the vortex‐induced electroosmotic mixing of non‐Newtonian biofluids in a nonuniformly charged wavy microchannel: Effect of finite ion size
4个月前
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