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Results: 1-7 |
Results: 7
INCOMPLETE ECORI DIGESTION MAY LEAD TO FALSE DIAGNOSIS OF FRAGILE-X-SYNDROME
Authors: STORM K HANDIG I REYNIERS E OOSTRA BA KOOY RF WILLEMS PJ
Citation: K. Storm et al., INCOMPLETE ECORI DIGESTION MAY LEAD TO FALSE DIAGNOSIS OF FRAGILE-X-SYNDROME, Human genetics, 102(1), 1998, pp. 54-56
INHERITANCE OF THE S113L MUTATION WITHIN AN INBRED FAMILY WITH CARNITINE PALMITOYLTRANSFERASE ENZYME DEFICIENCY
Authors: HANDIG I DAMS E TARONI F VANLAERE S DEBARSY T WILLEMS PJ
Citation: I. Handig et al., INHERITANCE OF THE S113L MUTATION WITHIN AN INBRED FAMILY WITH CARNITINE PALMITOYLTRANSFERASE ENZYME DEFICIENCY, Human genetics, 97(3), 1996, pp. 291-293
CHROMOSOME 13Q DELETION WITH APPARENT TYPE-II WAARDENBURG SYNDROME - EVIDENCE FOR A GENE INVOLVED IN NEURAL CREST FUNCTION ON 13Q
Authors: VANCAMP G VANTHIENEN MN HANDIG I VANROY B WILLEMS PJ
Citation: G. Vancamp et al., CHROMOSOME 13Q DELETION WITH APPARENT TYPE-II WAARDENBURG SYNDROME - EVIDENCE FOR A GENE INVOLVED IN NEURAL CREST FUNCTION ON 13Q, Cytogenetics and cell genetics, 70(1-2), 1995, pp. 21-21
CHROMOSOME 13Q DELETION WITH WAARDENBURG SYNDROME - FURTHER EVIDENCE FOR A GENE INVOLVED IN NEURAL CREST FUNCTION ON 13Q
Authors: VANCAMP G VANTHIENEN MN HANDIG I VANROY B RAO VS MILUNSKY A READ AP BALDWIN CT FARRER LA BONDUELLE M STANDAERT L MEIRE F WILLEMS PJ
Citation: G. Vancamp et al., CHROMOSOME 13Q DELETION WITH WAARDENBURG SYNDROME - FURTHER EVIDENCE FOR A GENE INVOLVED IN NEURAL CREST FUNCTION ON 13Q, Journal of Medical Genetics, 32(7), 1995, pp. 531-536
APPARENT REGRESSION OF THE CGG REPEAT IN FMR1 TO AN ALLELE OF NORMAL SIZE
Authors: VITS L DEBOULLE K REYNIERS E HANDIG I DARBY JK OOSTRA B WILLEMS PJ
Citation: L. Vits et al., APPARENT REGRESSION OF THE CGG REPEAT IN FMR1 TO AN ALLELE OF NORMAL SIZE, Human genetics, 94(5), 1994, pp. 523-526
FOUNDER EFFECT IN A BELGIAN-DUTCH FRAGILE-X POPULATION
Authors: BUYLE S REYNIERS E VITS L DEBOULLE K HANDIG I WUYTS FLE DEELEN W HALLEY DJJ OOSTRA BA WILLEMS PJ
Citation: S. Buyle et al., FOUNDER EFFECT IN A BELGIAN-DUTCH FRAGILE-X POPULATION, Human genetics, 92(3), 1993, pp. 269-272
A 2ND WAARDENBURG SYNDROME GENE ON CHROMOSOME-13Q
Authors: HANDIG I VANCAMP G VANTIENEN MN VANROY B READ A WILLEMS PJ
Citation: I. Handig et al., A 2ND WAARDENBURG SYNDROME GENE ON CHROMOSOME-13Q, American journal of human genetics, 53(3), 1993, pp. 1011-1011
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