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Nathalie McIntosh

Boston Children's Hospital

4

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CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX

2002 BMC Genetics
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Familial unilateral Brown syndrome.

2002 Ophthalmic Genetics
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Duane Radial Ray Syndrome (Okihiro Syndrome) Maps to 20q13 and Results from Mutations in SALL4, a New Member of the SAL Family

2002 American Journal of Human Genetics
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Laboratory Guidelines for Huntington Disease Genetic Testing

1998 American Journal of Human Genetics
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Citations (139)