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Results: 1-10 |
Results: 10
SPORADIC IMPRINTING DEFECTS IN PRADER-WILLI-SYNDROME AND ANGELMAN-SYNDROME - IMPLICATIONS FOR IMPRINT-SWITCH MODELS, GENETIC-COUNSELING, AND PRENATAL-DIAGNOSIS
Authors: BUITING K DITTRICH B GROSS S LICH C FARBER C BUCHHOLZ T SMITH E REIS A BURGER J NOTHEN MM BARTHWITTE U JANSSEN B ABELIOVICH D LERER I VANDENOUWELAND AMW HALLEY DJJ SCHRANDERSTUMPEL C SMEETS H MEINECKE P MALCOLM S GARDNER A LALANDE M NICHOLLS RD FRIEND K SCHULZE A MATTHIJS G KOKKONEN H HILBERT P VANMALDERGEM L GLOVER G CARBONELL P WILLEMS P GILLESSENKAESBACH G HORSTHEMKE B
Citation: K. Buiting et al., SPORADIC IMPRINTING DEFECTS IN PRADER-WILLI-SYNDROME AND ANGELMAN-SYNDROME - IMPLICATIONS FOR IMPRINT-SWITCH MODELS, GENETIC-COUNSELING, AND PRENATAL-DIAGNOSIS, American journal of human genetics, 63(1), 1998, pp. 170-180
INFANT AND MATERNAL MORTALITY IN ALBANIA
Authors: SMEETS H CAUSHI N ALIKAJ E
Citation: H. Smeets et al., INFANT AND MATERNAL MORTALITY IN ALBANIA, European journal of public health, 7(3), 1997, pp. 279-283
TYPE-IV COLLAGEN DEFECTS IN ALPORT SYNDROME AND FAMILIAL BENIGN HEMATURIA
Authors: SMEETS H LEMMINK H NILLESEN W VANDRUNEN A VANDENHEUVEL L MONNENS L SCHRODER C
Citation: H. Smeets et al., TYPE-IV COLLAGEN DEFECTS IN ALPORT SYNDROME AND FAMILIAL BENIGN HEMATURIA, Kidney international, 50(1), 1996, pp. 330-330
MOLECULAR-CLONING AND CHARACTERIZATION OF THE ACTIVE HUMAN MITOCHONDRIAL NADH-UBIQUINONE OXIDOREDUCTASE 24-KDA GENE (NDUFV2) AND ITS PSEUDOGENE
Authors: DECOO R BUDDIGER P SMEETS H VANKESSEL AG MORGANHUGHES J WEGHUIS DO OVERHAUSER J VANOOST B
Citation: R. Decoo et al., MOLECULAR-CLONING AND CHARACTERIZATION OF THE ACTIVE HUMAN MITOCHONDRIAL NADH-UBIQUINONE OXIDOREDUCTASE 24-KDA GENE (NDUFV2) AND ITS PSEUDOGENE, Genomics, 26(3), 1995, pp. 461-466
A FRAMESHIFT MUTATION IN THE TYPE-IV COLLAGEN ALPHA-3 GENE IN AUTOSOMAL RECESSIVE ALPORT SYNDROME
Authors: LEMMINK H VANDENHEUVEL L KLUIJTMANS L MOCHIZUKI T REEDERS S MONNENS L SCHRODER C BRUNNER H SMEETS H
Citation: H. Lemmink et al., A FRAMESHIFT MUTATION IN THE TYPE-IV COLLAGEN ALPHA-3 GENE IN AUTOSOMAL RECESSIVE ALPORT SYNDROME, Kidney international, 46(5), 1994, pp. 1461-1461
GONOSOMAL MOSAICISM IN MYOTONIC-DYSTROPHY PATIENTS - INVOLVEMENT OF MITOTIC EVENTS IN (CTG)(N) REPEAT VARIATION AND SELECTION AGAINST EXTREME EXPANSION IN SPERM
Authors: JANSEN G WILLEMS P COERWINKEL M NILLESEN W SMEETS H VITS L HOWELER C BRUNNER H WIERINGA B
Citation: G. Jansen et al., GONOSOMAL MOSAICISM IN MYOTONIC-DYSTROPHY PATIENTS - INVOLVEMENT OF MITOTIC EVENTS IN (CTG)(N) REPEAT VARIATION AND SELECTION AGAINST EXTREME EXPANSION IN SPERM, American journal of human genetics, 54(4), 1994, pp. 575-585
CHARACTERISTICS OF INTERGENERATIONAL CONTRACTIONS OF THE CTG REPEAT IN MYOTONIC-DYSTROPHY
Authors: ASHIZAWA T ANVRET M BAIGET M BARCELO JM BRUNNER H COBO AM DALLAPICCOLA B FENWICK RG GRANDELL U HARLEY H JUNIEN C KOCH MC KORNELUK RG LAVEDAN C MIKI T MULLEY JC DEMUNAIN AL NOVELLI G ROSES AD SELTZER WK SHAW DJ SMEETS H SUTHERLAND GR YAMAGATA H HARPER PS
Citation: T. Ashizawa et al., CHARACTERISTICS OF INTERGENERATIONAL CONTRACTIONS OF THE CTG REPEAT IN MYOTONIC-DYSTROPHY, American journal of human genetics, 54(3), 1994, pp. 414-423
DELETION OF THE PAIRED ALPHA-5(IV) AND ALPHA-6(IV) COLLAGEN GENES IN INHERITED SMOOTH-MUSCLE TUMORS
Authors: ZHOU J MOCHIZUKI T SMEETS H ANTIGNAC C LAURILA P DEPAEPE A TRYGGVASON K REEDERS ST
Citation: J. Zhou et al., DELETION OF THE PAIRED ALPHA-5(IV) AND ALPHA-6(IV) COLLAGEN GENES IN INHERITED SMOOTH-MUSCLE TUMORS, Science, 261(5125), 1993, pp. 1167-1169
CHARACTERISTICS OF CONTRACTIONS OF THE CTG REPEAT IN MYOTONIC-DYSTROPHY (DM) OFFSPRING
Authors: ASHIZAWA T ANVRET M BAIGET M BRUNNER H COBO A DALLAPICOOLA B FENWICK RG HARLEY H JUNIEN C KOCH M KORNELUK RG LEVEDAN C MIKI T NOVELLI G ROSES AD SELTZER WK SMEETS H HARPER PS
Citation: T. Ashizawa et al., CHARACTERISTICS OF CONTRACTIONS OF THE CTG REPEAT IN MYOTONIC-DYSTROPHY (DM) OFFSPRING, American journal of human genetics, 53(3), 1993, pp. 2-2
MYOTONIC-DYSTROPHY KINASE (DM-KINASE) GENE-EXPRESSION IN MAN AND MOUSE
Authors: JANSEN G SMEETS H KAHLSCHEUER V BARTOLOMEI M RIELE HT BERNS A VANDERVEN P JAP P WORMSKAMP N ROPERS H WIERINGA B
Citation: G. Jansen et al., MYOTONIC-DYSTROPHY KINASE (DM-KINASE) GENE-EXPRESSION IN MAN AND MOUSE, American journal of human genetics, 53(3), 1993, pp. 233-233
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