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Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency
5小时前
已完结
Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients
2天前
已完结
Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients
2天前
已完结
Identification of a Novel ARSA Gene Mutation Through High-Throughput Molecular Diagnosis Method in Two Girls with Late Infantile Metachromatic Leukodystrophy
4天前
已完结
Abstracts 2024: 37th APS Annual Conference and Seminar – Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen e. V. (APS)
6天前
已关闭
Utility of genetic testing in children with leukodystrophy
6天前
已完结
[Genetic analysis of a patient with late infantile metachromatic leukodystrophy]
6天前
已完结
Clinical Implications of Pathogenic Germline Variants in Small Intestine Neuroendocrine Tumors (SI-NETs)
14天前
已完结
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
16天前
已完结
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
16天前
已完结
Contractile Peripapillary Staphyloma
1个月前
已采纳
Major Depression and Generalized Anxiety Disorder
1个月前
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Chronic Spontaneous Urticaria: How to Assess Quality of Life in Patients Receiving Treatment
1个月前
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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
1个月前
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The Costs and Effects of Laparoscopic Appendectomy in Children
1个月前
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The computerized medical record: the next frontier
1个月前
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The Halo Nevus
1个月前
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Axon Outgrowth Enhanced by a Previous Nerve Injury
1个月前
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Disulfiram-Induced Encephalopathy
1个月前
已采纳
Numerical study of the vortex‐induced electroosmotic mixing of non‐Newtonian biofluids in a nonuniformly charged wavy microchannel: Effect of finite ion size
1个月前
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