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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
- Nosology and Classification of Genetic Skeletal Disorders
- Intersex.Pdf
- Common Variants in Mendelian Kidney Disorder Genes and Their Association with Renal Function And
- Androgen Insensitivity Syndrome
- WES Gene Package Craniosynostosis.Xlsx
- The Morbid Anatomy of the Human Genome: Chromosomal Location of Mutations Causing Disease
- Screening of the 1 Mb SOX9 5! Control Region by Array CGH Identifies A
- Campomelic Dysplasia
- 46,XY Disorders of Sex Development
- Disorders of Sex Development V01
- Acampomelic Campomelic Dysplasia in Genetic Male Without Sex Reversal
- Human Male Sex Determination and Sexual Differentiation: Pathways, Molecular Interactions and Genetic Disorders
- Syndrome Spotter Syndrome Spotter
- Prevalence and Incidence of Rare Diseases
- 25 Position Effects
- Swyer Syndrome
- The Skeletal Dysplasias Deborah Krakow, MD1, and David L
- Genetics of Cleft Lip and Cleft Palate: Perspectives in Surgery Management 4 and Outcome
- Atlas of Genetic Diagnosis and Counseling
- Applying Principles of Developmental Biology to Generate Three-Dimensional Lung Organoids from Human Pluripotent Stem Cells
- The Differential Diagnosis of Fetal Alcohol Spectrum Disorder
- Genetic Testing Requisition