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Publications by Emma N. Hilton

LRIG2 Mutations Cause Urofacial Syndrome

American Journal of Human Genetics
Genetics
2013English

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Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

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Germline-Activating RRAS2 Mutations Cause Noonan Syndrome

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SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

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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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Reply to Mazzeu: Human Mutations inRYKMight Cause Robinow Syndrome

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De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

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Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

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Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

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