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K Herman

Research Profile

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Infants

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Illinois

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Publications

TOP 3
Margaret J Kovach; Kathleen Campbell; K Herman; Brook Waggoner; David Gelber; Larry F Hughes; Virginia E Kimonis
Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.
A S Chen; Margaret J Kovach; K Herman; A Avakian; W Frank; Shawnia Forrester; J P Lin; Virginia E Kimonis
Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families.
Margaret J Kovach; J P Lin; Simeon Boyd; Kathleen Campbell; L Mazzeo; K Herman; Lisa Rimer; W Frank; B Llewellyn; Ethylin Jabs; David Gelber; Virginia E Kimonis
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.

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All Publications

2002: Margaret J Kovach; Kathleen Campbell; K Herman; Brook Waggoner; David Gelber; Larry F Hughes; Virginia E Kimonis
Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.
American journal of medical genetics 2002;108(4):295-303.
2000: A S Chen; Margaret J Kovach; K Herman; A Avakian; W Frank; Shawnia Forrester; J P Lin; Virginia E Kimonis
Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families.
Genetics in medicine : official journal of the American College of Medical Genetics 2000;2(5):283-9.
1999: Margaret J Kovach; J P Lin; Simeon Boyd; Kathleen Campbell; L Mazzeo; K Herman; Lisa Rimer; W Frank; B Llewellyn; Ethylin Jabs; David Gelber; Virginia E Kimonis
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.
American journal of human genetics 1999;64(6):1580-93.

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