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Publications by R. Strohal
177 VPS33B Mutations Cause ARKID Syndrome Affecting Rab Protein Interaction, Collagen Modification and Epidermal Structure
Journal of Investigative Dermatology
Biochemistry
Dermatology
Cell Biology
Molecular Biology
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LRIG2 Mutations Cause Urofacial Syndrome
American Journal of Human Genetics
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Germline-Activating RRAS2 Mutations Cause Noonan Syndrome
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Classical and Neonatal Marfan Syndrome Mutations in Fibrillin-1 Cause Differential Protease Susceptibilities and Protein Function
Journal of Biological Chemistry
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SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome
American Journal of Human Genetics
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Barth Syndrome Mutations That Cause Tafazzin Complex Lability
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Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome
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Mutations Affecting the Structure and Function of Immunoglobulin M.
Molecular and Cellular Biology
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Reply to Mazzeu: Human Mutations inRYKMight Cause Robinow Syndrome
Journal of Biological Chemistry
Biochemistry
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De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome
American Journal of Human Genetics
Genetics