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Publications by Burcu Bulum
LRIG2 Mutations Cause Urofacial Syndrome
American Journal of Human Genetics
Genetics
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Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial 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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Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome
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