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Publications by Sylvia E.M. van Beersum
Mutations in the Human TBX4 Gene Cause Small Patella Syndrome
American Journal of Human Genetics
Genetics
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Mutations in the FKRP Gene Can Cause Muscle-Eye-Brain Disease and Walker-Warburg Syndrome
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Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome
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The Small Patella Syndrome: Description of Five Cases From Three Families and Examination of Possible Allelism With Familial Patella Aplasia-Hypoplasia and Nail-Patella Syndrome
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Confirmation of EP300 Gene Mutations as a Rare Cause of Rubinstein–Taybi Syndrome
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Germline-Activating RRAS2 Mutations Cause Noonan Syndrome
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RAD21 Mutations Cause a Human Cohesinopathy
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