genereviews.org - GeneReviews® - NCBI Bookshelf
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Last updated 04 abril 2025


Internet Resources in Medical Genetics - Waggoner - 2009 - Current Protocols in Human Genetics - Wiley Online Library

Zeynep Tumer (@ZeynepTumer_DK) / X

Bardet-Biedl Syndrome - GeneReviews® - NCBI Bookshelf

Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome

Benjamin Solomon on X: Q73 answer: Coloboma / X

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 - ScienceDirect

PDF) The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

Figure 2. [An algorithm of conditions to]. - GeneReviews® - NCBI Bookshelf

Figure 1. [Clinical photographs of individuals with]. - GeneReviews® - NCBI Bookshelf

Understanding the Hidden Impact of Fabry Disease
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