Campomelic dysplasia
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- Gene Disease Or Mutation Characteristics of Disease
- Connective Tissue Disorders
- The Molecular Basis of Male Sexual Differentiation
- Campomelic Dysplasia a Difficult Airway and Respiratory Failure Have to Be Anticipated
- Characterising the Loss-Of-Function Impact of 5' Untranslated Region Variants in Whole Genome Sequence Data from 15,708 Individuals
- Review Article a Gene Map of Congenitalmalformations
- ORPHA Number Disease Or Group of Diseases 300305 11P15.4
- The Phenotype of Survivors of Campomelic Dysplasia S Mansour, a C Offiah, S Mcdowall, P Sim, J Tolmie, C Hall
- Keeping Sonic Hedgehog Under the Thumb, Genetic Regulation of Limb Development
- Wwp2 Is Essential for Palatogenesis Mediated by the Interaction Between Sox9 and Mediator Subunit 25
- Newborndxtm Advanced Sequencing Evaluation Disorders List
- Review Article J Med Genet: First Published As 10.1136/Jmg.31.4.265 on 1 April 1994
- Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function
- 17 Chromosome Chapter
- Diagnostic Yield of Rare Skeletal Dysplasia Conditions in the Radiogenomics Era Ataf H
- Campomelic Dysplasia: Medical Treatment, Musculoskeletal Management, and Mistakes Not to Make
- Diagnosed Cases of Rare Diseases at CENTOGENE January 2012 to June 2016
- Cleft Lip and Palate: Understanding Genetic and Environmental Influences