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Results: 1-13 |
Results: 13
A 2ND COMMON MUTATION IN THE METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR) GENE - A RISK FACTOR FOR NEURAL-TUBE DEFECTS
Authors: VANDERPUT N GABREELS F STEVENS E SMEITINK J TRIJBELS F ESKES T VANDENHEUVEL L BLOM H
Citation: N. Vanderput et al., A 2ND COMMON MUTATION IN THE METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR) GENE - A RISK FACTOR FOR NEURAL-TUBE DEFECTS, The FASEB journal, 12(4), 1998, pp. 3197-3197
MOLECULAR CHARACTERIZATION AND MUTATIONAL ANALYSIS OF THE HUMAN B17 SUBUNIT OF THE MITOCHONDRIAL RESPIRATORY-CHAIN COMPLEX I
Authors: SMEITINK J LOEFFEN J SMEETS R TRIEPELS R RUITENBEEK W TRIJBELS F VANDENHEUVEL L
Citation: J. Smeitink et al., MOLECULAR CHARACTERIZATION AND MUTATIONAL ANALYSIS OF THE HUMAN B17 SUBUNIT OF THE MITOCHONDRIAL RESPIRATORY-CHAIN COMPLEX I, Human genetics, 103(2), 1998, pp. 245-250
LOCALIZATION OF ICF SYNDROME BY HOMOZYGOSITY MAPPING
Authors: WIJMENGA C VANDENHEUVEL L STRENGMAN E LUYTEN J VANDERBURGT I DEGROOT R SMEETS D VANDONGEN J PEARSON P SANDKUIJL L WEEMAES C
Citation: C. Wijmenga et al., LOCALIZATION OF ICF SYNDROME BY HOMOZYGOSITY MAPPING, Molecular immunology, 35(11-12), 1998, pp. 719-719
THE X-CHROMOSOMAL NDUFA1 GENE OF COMPLEX-I IN MITOCHONDRIAL ENCEPHALOMYOPATHIES - TISSUE EXPRESSION AND MUTATION DETECTION
Authors: LOEFFEN J SMEETS R SMEITINK J RUITENBEEK W JANSSEN A MARIMAN E SENGERS R TRIJBELS F VANDENHEUVEL L
Citation: J. Loeffen et al., THE X-CHROMOSOMAL NDUFA1 GENE OF COMPLEX-I IN MITOCHONDRIAL ENCEPHALOMYOPATHIES - TISSUE EXPRESSION AND MUTATION DETECTION, Journal of inherited metabolic disease, 21(3), 1998, pp. 210-215
CDNA SEQUENCE AND CHROMOSOMAL LOCALIZATION OF THE REMAINING 3 HUMAN NUCLEAR-ENCODED IRON-SULFUR PROTEIN (IP) SUBUNITS OF COMPLEX-I - THE HUMAN IP FRACTION IS COMPLETED
Authors: LOEFFEN J VANDENHEUVEL L SMEETS R TRIEPELS R SENGERS R TRIJBELS F SMEITINK J
Citation: J. Loeffen et al., CDNA SEQUENCE AND CHROMOSOMAL LOCALIZATION OF THE REMAINING 3 HUMAN NUCLEAR-ENCODED IRON-SULFUR PROTEIN (IP) SUBUNITS OF COMPLEX-I - THE HUMAN IP FRACTION IS COMPLETED, Biochemical and biophysical research communications (Print), 247(3), 1998, pp. 751-758
CLONING OF THE HUMAN MITOCHONDRIAL 51 KDA SUBUNIT (NDUFV1) REVEALS A 100-PERCENT ANTISENSE HOMOLOGY OF ITS 3'UTR WITH THE 5'UTR OF THE GAMMA-INTERFERON INDUCIBLE PROTEIN (IP-30) PRECURSOR - IS THIS A LINK BETWEEN MITOCHONDRIAL MYOPATHY AND INFLAMMATION
Authors: SCHUELKE M LOEFFEN J MARIMAN E SMEITINK J VANDENHEUVEL L
Citation: M. Schuelke et al., CLONING OF THE HUMAN MITOCHONDRIAL 51 KDA SUBUNIT (NDUFV1) REVEALS A 100-PERCENT ANTISENSE HOMOLOGY OF ITS 3'UTR WITH THE 5'UTR OF THE GAMMA-INTERFERON INDUCIBLE PROTEIN (IP-30) PRECURSOR - IS THIS A LINK BETWEEN MITOCHONDRIAL MYOPATHY AND INFLAMMATION, Biochemical and biophysical research communications, 245(2), 1998, pp. 599-606
DEMONSTRATION OF A NEW PATHOGENIC MUTATION IN HUMAN COMPLEX-I DEFICIENCY - A 5-BP DUPLICATION IN THE NUCLEAR GENE ENCODING THE 18-KD (AQDQ)SUBUNIT
Authors: VANDENHEUVEL L RUITENBEEK W SMEETS R GELMANKOHAN Z ELPELEG O LOEFFEN J TRIJBELS F MARIMAN E DEBRUIJN D SMEITINK J
Citation: L. Vandenheuvel et al., DEMONSTRATION OF A NEW PATHOGENIC MUTATION IN HUMAN COMPLEX-I DEFICIENCY - A 5-BP DUPLICATION IN THE NUCLEAR GENE ENCODING THE 18-KD (AQDQ)SUBUNIT, American journal of human genetics, 62(2), 1998, pp. 262-268
CLONING OF THE HUMAN CARNITINE-ACYLCARNITINE CARRIER CDNA AND IDENTIFICATION OF THE MOLECULAR DEFECT IN A PATIENT
Authors: HUIZING M IACOBAZZI V IJLST L SAVELKOUL P RUITENBEEK W VANDENHEUVEL L INDIVERI C SMEITINK J TRIJBELS F WANDERS R PALMIERI F
Citation: M. Huizing et al., CLONING OF THE HUMAN CARNITINE-ACYLCARNITINE CARRIER CDNA AND IDENTIFICATION OF THE MOLECULAR DEFECT IN A PATIENT, American journal of human genetics, 61(6), 1997, pp. 1239-1245
ISOLATION, PURIFICATION AND CHARACTERIZATION OF HUMAN GLOMERULAR MICROVASCULAR ENDOTHELIAL-CELLS (GMVEC) AND THE EFFECTS OF VEROTOXIN-1 (VT-1) ON GMVEC
Authors: VANSETTEN P VANHINSBERGH V VANDENVELDEN T VANDENKAR N VANDENHEUVEL L MAHAN J MONNENS L
Citation: P. Vansetten et al., ISOLATION, PURIFICATION AND CHARACTERIZATION OF HUMAN GLOMERULAR MICROVASCULAR ENDOTHELIAL-CELLS (GMVEC) AND THE EFFECTS OF VEROTOXIN-1 (VT-1) ON GMVEC, Kidney international, 50(5), 1996, pp. 1808-1809
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
ISOLATION, PURIFICATION AND CHARACTERIZATION OF HUMAN GLOMERULAR MICROVASCULAR ENDOTHELIAL-CELLS (GMVEC) AND THE EFFECTS OF VEROCYTOTOXIN-1(VT-1) ON GMVEC
Authors: VANSETTEN P VANHINSBERGH V VANDERVELDEN T VANDEKAR N VANDENHEUVEL L MAHAN J MONNENS L
Citation: P. Vansetten et al., ISOLATION, PURIFICATION AND CHARACTERIZATION OF HUMAN GLOMERULAR MICROVASCULAR ENDOTHELIAL-CELLS (GMVEC) AND THE EFFECTS OF VEROCYTOTOXIN-1(VT-1) ON GMVEC, Kidney international, 50(1), 1996, pp. 335-336
MOLECULAR AND IMMUNOLOGICAL STUDIES IN X-LINKED AND AUTOSOMAL RECESSIVE ALPORT SYNDROME
Authors: LEMMINK HH VANDENHEUVEL L SCHRODER CAH NILLESEN W VANOOST BA BRUNNER HG MONNENS LAH SMEETS HJM
Citation: Hh. Lemmink et al., MOLECULAR AND IMMUNOLOGICAL STUDIES IN X-LINKED AND AUTOSOMAL RECESSIVE ALPORT SYNDROME, Journal of the American Society of Nephrology, 5(3), 1994, pp. 629-629
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
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