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Fingers

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Clinical and genetic spectrum of trichorhinophalangeal syndrome type I/III in 20 children of Korean origin.
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Human, AI, and Color Tool: A Comparative Study on Emotion-Color Associations
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The homozygous founder Psmb8 variant of Nakajo-Nishimura syndrome/proteasome-associated autoinflammatory syndrome causes panniculitis-associated lipoatrophy and a shortened lifespan in mice.
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<p class="MDPI12title">Multisite Atherosclerosis and SCORE2‐Based Risk Stratification in Psoriatic Arthritis: A Phenotype‐Dependent Role of Vascular Territories
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Genetic Syndromes Associated With Congenital Upper Limb Differences.
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Cohen syndrome with novel VPS13B variants presenting as early-onset diabetes: a case report.
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Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy.
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Maternal UPD(20) Leading to Mulchandani-Bhoj-Conlin Syndrome: A Rare Neonatal Case With Additional TRPS1 Deletion.
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Prenatal Diagnosis of Hartsfield Syndrome in the Fetus With Isolated Ectrodactyly Caused by a Novel Variant in FGFR1.
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MAX-Related Disorder: Expanding the Phenotype of the Recurrent p.Arg60Gln Variant.
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