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Results: 1-17 |
Results: 17
PATTERNS OF COGNITIVE-FUNCTIONING IN SCHOOL-AGED CHILDREN WITH NOONAN-SYNDROME ASSOCIATED WITH THE VARIABILITY IN PHENOTYPICAL EXPRESSION
Authors: VANDERBURGT I THOONEN G ASSMANHULSMANS C BRUNNER H GABREELS F OTTEN B
Citation: I. Vanderburgt et al., PATTERNS OF COGNITIVE-FUNCTIONING IN SCHOOL-AGED CHILDREN WITH NOONAN-SYNDROME ASSOCIATED WITH THE VARIABILITY IN PHENOTYPICAL EXPRESSION, European journal of human genetics, 6, 1998, pp. 1031-1031
EXCLUSION OF THE MYOSIN LIGHT-CHAIN-2 GENE AND THE RIBOSOMAL-PROTEIN L6 GENE FROM A CAUSATIVE ROLE IN THE PATHOGENESIS OF NOONAN-SYNDROME
Authors: KREMER H CROSBY AH VANREEN M KENMOCHI N ION A JAMIESON CR VANDERBURGT I PATTON MA MARIMAN ECM JEFFERY S
Citation: H. Kremer et al., EXCLUSION OF THE MYOSIN LIGHT-CHAIN-2 GENE AND THE RIBOSOMAL-PROTEIN L6 GENE FROM A CAUSATIVE ROLE IN THE PATHOGENESIS OF NOONAN-SYNDROME, European journal of human genetics, 6, 1998, pp. 4184-4184
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
MUTATIONS IN CDMP1 CAUSE AUTOSOMAL-DOMINANT BRACHYDACTYLY TYPE-C
Authors: POLINKOVSKY A ROBIN NH THOMAS JT IRONS M LYNN A GOODMAN FR REARDON W KANT SG BRUNNER HG VANDERBURGT I CHITAYAT D MCGAUGHRAN J DONNAI D LUYTEN FP WARMAN ML
Citation: A. Polinkovsky et al., MUTATIONS IN CDMP1 CAUSE AUTOSOMAL-DOMINANT BRACHYDACTYLY TYPE-C, Nature genetics, 17(1), 1997, pp. 18-19
FURTHER DELINEATION OF THE CRITICAL REGION FOR NOONAN-SYNDROME ON THELONG ARM OF CHROMOSOME-12
Authors: BRADY AF JAMIESON CR VANDERBURGT I CROSBY A VANREEN M KREMER H MARIMAN E PATTON MA JEFFERY S
Citation: Af. Brady et al., FURTHER DELINEATION OF THE CRITICAL REGION FOR NOONAN-SYNDROME ON THELONG ARM OF CHROMOSOME-12, European journal of human genetics, 5(5), 1997, pp. 336-337
GROWTH-HORMONE THERAPY IN PRE-PUBERTAL CHILDREN WITH NOONAN-SYNDROME - FIRST YEAR GROWTH-RESPONSE AND COMPARISON WITH TURNER-SYNDROME
Authors: DESCHEPPER J OTTEN BJ FRANCOIS I BOURGUIGNON JP CRAEN M VANDERBURGT I MASSA GG
Citation: J. Deschepper et al., GROWTH-HORMONE THERAPY IN PRE-PUBERTAL CHILDREN WITH NOONAN-SYNDROME - FIRST YEAR GROWTH-RESPONSE AND COMPARISON WITH TURNER-SYNDROME, Acta paediatrica, 86(9), 1997, pp. 943-946
BRACHYDACTYLY TYPE-C IS CAUSED BY MUTATIONS IN THE MORPHOGEN CDMP-1
Authors: ROBIN NH POLINKOVSKY A GUNAYAYGUN M THOMAS JT IRONS M LYNN A GOODMAN FR REARDON W KANT SG BRUNNER HG VANDERBURGT I CHITAYAT D MORRISON S LUYTEN FP WARMAN ML
Citation: Nh. Robin et al., BRACHYDACTYLY TYPE-C IS CAUSED BY MUTATIONS IN THE MORPHOGEN CDMP-1, American journal of human genetics, 61(4), 1997, pp. 251-251
XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX - A FURTHER CASE
Authors: HAMEL BCK RAAMS A SCHUITEMADIJKSTRA AR SIMONS P VANDERBURGT I JASPERS NGJ KLEIJER WJ
Citation: Bck. Hamel et al., XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX - A FURTHER CASE, Journal of Medical Genetics, 33(7), 1996, pp. 607-610
NIJMEGEN BREAKAGE SYNDROME
Authors: VANDERBURGT I CHRZANOWSKA KH SMEETS D WEEMAES C
Citation: I. Vanderburgt et al., NIJMEGEN BREAKAGE SYNDROME, Journal of Medical Genetics, 33(2), 1996, pp. 153-156
GENETICS AND MOLECULAR-BIOLOGY IN SHORT STATURE
Authors: MULLIS PE ARGENTE J AMSELEM S PFAFFLE R VANDERBURGT I
Citation: Pe. Mullis et al., GENETICS AND MOLECULAR-BIOLOGY IN SHORT STATURE, Acta paediatrica, 84, 1995, pp. 75-80
GENETIC HOMOGENEITY OF CARTILAGE HAIR HYPOPLASIA
Authors: SULISALO T VANDERBURGT I RIMOIN DL BONAVENTURE J SILLENCE D CAMPBELL JB CHITAYAT D SCOTT CI DELACHAPELLE A SISTONEN P KAITILA I
Citation: T. Sulisalo et al., GENETIC HOMOGENEITY OF CARTILAGE HAIR HYPOPLASIA, Human genetics, 95(2), 1995, pp. 157-160
FURTHER DELINEATION OF THE BRANCHIOOCULOFACIAL SYNDROME
Authors: LIN AE GORLIN RJ LURIE IW BRUNNER HG VANDERBURGT I NAUMCHIK IV RUMYANTSEVA NV STENGELRUTKOWSKI S ROSENBAUM K MEINECKE P MULLER D
Citation: Ae. Lin et al., FURTHER DELINEATION OF THE BRANCHIOOCULOFACIAL SYNDROME, American journal of medical genetics, 56(1), 1995, pp. 42-59
MAPPING A GENE FOR NOONAN-SYNDROME TO THE LONG ARM OF CHROMOSOME-12
Authors: JAMIESON CR VANDERBURGT I BRADY AF VANREEN M ELSAWI MM HOL F JEFFERY S PATTON MA MARIMAN E
Citation: Cr. Jamieson et al., MAPPING A GENE FOR NOONAN-SYNDROME TO THE LONG ARM OF CHROMOSOME-12, Nature genetics, 8(4), 1994, pp. 357-360
THE KABUKI (NIIKAWA-KUROKI) SYNDROME - FURTHER DELINEATION OF THE PHENOTYPE IN 29 NON-JAPANESE PATIENTS
Authors: SCHRANDERSTUMPEL C MEINECKE P WILSON G GILLESSENKAESBACH G TINSCHERT S KONIG R PHILIP N RIZZO R SCHRANDER J PFEIFFER L MAATKIEVIT A VANDERBURGT I VANESSEN T LATTA E HILLIG U VERLOES A JOURNEL H FRYNS JP
Citation: C. Schranderstumpel et al., THE KABUKI (NIIKAWA-KUROKI) SYNDROME - FURTHER DELINEATION OF THE PHENOTYPE IN 29 NON-JAPANESE PATIENTS, European journal of pediatrics, 153(6), 1994, pp. 438-445
CLINICAL AND MOLECULAR STUDIES IN A LARGE DUTCH FAMILY WITH NOONAN SYNDROME
Authors: VANDERBURGT I BERENDS E LOMMEN E VANBEERSUM S HAMEL B MARIMAN E
Citation: I. Vanderburgt et al., CLINICAL AND MOLECULAR STUDIES IN A LARGE DUTCH FAMILY WITH NOONAN SYNDROME, American journal of medical genetics, 53(2), 1994, pp. 187-191
ICF SYNDROME
Authors: WEEMAES C SMEETS D BAKKEREN J VANDERBURGT I
Citation: C. Weemaes et al., ICF SYNDROME, Pediatric research, 36(1), 1994, pp. 10000065-10000065
ICF SYNDROME STUDIED BY FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: SMEETS D HAMERS A VANDERBURGT I ELSEVIER D VANGAAL J MERKX G NIEHOFF J VAESPEETERS G WIENEN I WEEMAES C
Citation: D. Smeets et al., ICF SYNDROME STUDIED BY FLUORESCENCE IN-SITU HYBRIDIZATION, American journal of human genetics, 53(3), 1993, pp. 220-220
Risultati: 1-17 |