ACNP - Italian Periodicals Catalogue

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Results: 1-24 |

Results: 24

A DOUBLE MISSENSE MUTATION IN THE ATM GENE OF A DUTCH FAMILY WITH ATAXIA-TELANGIECTASIA

Authors: VANBELZEN MJ HIEL JAP WEEMAES CMR GABREELS FJM VANENGELEN BGM SMEETS DFCM VANDENHEUVEL LPWJ

Citation: Mj. Vanbelzen et al., A DOUBLE MISSENSE MUTATION IN THE ATM GENE OF A DUTCH FAMILY WITH ATAXIA-TELANGIECTASIA, Human genetics, 102(2), 1998, pp. 187-191

NIBRIN, A NOVEL DNA DOUBLE-STRAND BREAK REPAIR PROTEIN, IS MUTATED INNIJMEGEN BREAKAGE SYNDROME

Authors: VARON R VISSINGA C PLATZER M CEROSALETTI KM CHRZANOWSKA KH SAAR K BECKMANN G SEEMANOVA E COOPER PR NOWAK NJ STUMM M WEEMAES CMR GATTI RA WILSON RK DIGWEED M ROSENTHAL A SPERLING K CONCANNON P REIS A

Citation: R. Varon et al., NIBRIN, A NOVEL DNA DOUBLE-STRAND BREAK REPAIR PROTEIN, IS MUTATED INNIJMEGEN BREAKAGE SYNDROME, Cell, 93(3), 1998, pp. 467-476

LOCALIZATION OF THE ICF SYNDROME TO CHROMOSOME-20 BY HOMOZYGOSITY MAPPING

Authors: WIJMENGA C VANDENHEUVEL LPWJ STRENGMAN E LUYTEN JAFM VANDERBURGT IJAM DEGROOT R SMEETS DFCM DRAAISMA JMT VANDONGEN JJ DEABREU RA PEARSON PL SANDKUIJL LA WEEMAES CMR

Citation: C. Wijmenga et al., LOCALIZATION OF THE ICF SYNDROME TO CHROMOSOME-20 BY HOMOZYGOSITY MAPPING, American journal of human genetics, 63(3), 1998, pp. 803-809

FINE LOCALIZATION OF THE NIJMEGEN BREAKAGE SYNDROME GENE TO 8Q21 - EVIDENCE FOR A COMMON FOUNDER HAPLOTYPE

Authors: CEROSALETTI KM LANGE E STRINGHAM HM WEEMAES CMR SMEETS D SOLDER B BELOHRADSKY BH TAYLOR AMR KARNES P ELLIOTT A KOMATSU K GATTI RA BOEHNKE M CONCANNON P

Citation: Km. Cerosaletti et al., FINE LOCALIZATION OF THE NIJMEGEN BREAKAGE SYNDROME GENE TO 8Q21 - EVIDENCE FOR A COMMON FOUNDER HAPLOTYPE, American journal of human genetics, 63(1), 1998, pp. 125-134

T-CELL SUBSETS AND T-CELL FUNCTION IN CARTILAGE-HAIR HYPOPLASIA

Authors: KOOIJMAN R VANDERBURGT CJAM WEEMAES CMR HARALDSSON A SCHOLTENS EJ ZEGERS BJM

Citation: R. Kooijman et al., T-CELL SUBSETS AND T-CELL FUNCTION IN CARTILAGE-HAIR HYPOPLASIA, Scandinavian journal of immunology, 46(2), 1997, pp. 209-215

MAPPING NIJMEGEN-BREAKAGE-SYNDROME TO 8Q21 AND CONSTRUCTION OF A RADIATION HYBRID MAP OF THE D8S1757-D8S506 REGION

Authors: CEROSALETTI K LANGE E STRINGHAM HM TAYLOR AMR WEEMAES CMR GATTI R BOEHNKE M CONCANNON P

Citation: K. Cerosaletti et al., MAPPING NIJMEGEN-BREAKAGE-SYNDROME TO 8Q21 AND CONSTRUCTION OF A RADIATION HYBRID MAP OF THE D8S1757-D8S506 REGION, American journal of human genetics, 61(4), 1997, pp. 163-163

FIRST PATIENTS WITH HYPERIMMUNOGLOBULINEMIA-D SYNDROME FROM THE UNITED-STATES

Authors: DRENTH JPH WEEMAES CMR

Citation: Jph. Drenth et Cmr. Weemaes, FIRST PATIENTS WITH HYPERIMMUNOGLOBULINEMIA-D SYNDROME FROM THE UNITED-STATES, The Pediatric infectious disease journal, 15(10), 1996, pp. 924-924

CD4 DEFICIENCY IN MYELODYSPLASTIC SYNDROME WITH MONOSOMY-7

Authors: WEEMAES CMR PREIJERS F DEVAAN GAM BAKKEREN JAJM KLASEN IS HARALDSSON A

Citation: Cmr. Weemaes et al., CD4 DEFICIENCY IN MYELODYSPLASTIC SYNDROME WITH MONOSOMY-7, European journal of pediatrics, 155(2), 1996, pp. 96-98

ALTERED IMMUNOGLOBULIN CONCENTRATIONS AND LIGHT-CHAIN RATIOS IN JUVENILE-ONSET MIXED CONNECTIVE-TISSUE DISEASE

Authors: HARALDSSON A TIDDENS HAWM FISELIER T BAKKEREN JAJM WEEMAES CMR

Citation: A. Haraldsson et al., ALTERED IMMUNOGLOBULIN CONCENTRATIONS AND LIGHT-CHAIN RATIOS IN JUVENILE-ONSET MIXED CONNECTIVE-TISSUE DISEASE, Clinical rheumatology, 14(1), 1995, pp. 51-54

A DYSBALANCED IMMUNE-SYSTEM IN CRYPTOGENIC LENNOX-GASTAUT SYNDROME

Authors: VANENGELEN BGM WEEMAES CMR RENIER WO BAKKEREN JAJM BORM GF STRENGERS PFW

Citation: Bgm. Vanengelen et al., A DYSBALANCED IMMUNE-SYSTEM IN CRYPTOGENIC LENNOX-GASTAUT SYNDROME, Scandinavian journal of immunology, 41(2), 1995, pp. 209-213

NIJMEGEN-BREAKAGE-SYNDROME - A PROGRESS REPORT

Authors: WEEMAES CMR SMEETS DFCM VANDERBURGT CJAM

Citation: Cmr. Weemaes et al., NIJMEGEN-BREAKAGE-SYNDROME - A PROGRESS REPORT, International journal of radiation biology, 66(6), 1994, pp. 185-188

IMMUNOGLOBULIN TREATMENT IN EPILEPSY, A REVIEW OF THE LITERATURE

Authors: VANENGELEN BGM RENIER WO WEEMAES CMR GABREELS FJM MEINARDI H

Citation: Bgm. Vanengelen et al., IMMUNOGLOBULIN TREATMENT IN EPILEPSY, A REVIEW OF THE LITERATURE, Epilepsy research, 19(3), 1994, pp. 181-190

CEREBROSPINAL-FLUID EXAMINATIONS IN CRYPTOGENIC WEST AND LENNOX-GASTAUT SYNDROME BEFORE AND AFTER INTRAVENOUS IMMUNOGLOBULIN ADMINISTRATION

Authors: VANENGELEN BGM RENIER WO WEEMAES CMR LAMERS KJB GABREELS FJM MEINARDI H

Citation: Bgm. Vanengelen et al., CEREBROSPINAL-FLUID EXAMINATIONS IN CRYPTOGENIC WEST AND LENNOX-GASTAUT SYNDROME BEFORE AND AFTER INTRAVENOUS IMMUNOGLOBULIN ADMINISTRATION, Epilepsy research, 18(2), 1994, pp. 139-147

SEROLOGIC HLA TYPING IN CRYPTOGENIC LENNOX-GASTAUT SYNDROME

Authors: VANENGELEN BGM DEWAAL LP WEEMAES CMR RENIER WO

Citation: Bgm. Vanengelen et al., SEROLOGIC HLA TYPING IN CRYPTOGENIC LENNOX-GASTAUT SYNDROME, Epilepsy research, 17(1), 1994, pp. 43-47

LIGHT-CHAIN RATIOS AND CONCENTRATIONS OF IMMUNOGLOBULIN-G, IMMUNOGLOBULIN-A, AND IMMUNOGLOBULIN-M IN CHILDHOOD COMMON ACUTE LYMPHOBLASTIC-LEUKEMIA

Authors: HARALDSSON A DEVAAN GAM VANDIJK WJ BAKKEREN JAJM WEEMAES CMR

Citation: A. Haraldsson et al., LIGHT-CHAIN RATIOS AND CONCENTRATIONS OF IMMUNOGLOBULIN-G, IMMUNOGLOBULIN-A, AND IMMUNOGLOBULIN-M IN CHILDHOOD COMMON ACUTE LYMPHOBLASTIC-LEUKEMIA, Pediatric hematology and oncology, 11(1), 1994, pp. 83-90

LATE-ONSET ATAXIA-TELANGIECTASIA IN 2 BROTHERS PRESENTING WITH JUVENILE RESTING TREMOR

Authors: HIEL JAP WEEMAES CMR SMEETS DFCM VANDEVLASAKKER CJW HORSTINK MWIM

Citation: Jap. Hiel et al., LATE-ONSET ATAXIA-TELANGIECTASIA IN 2 BROTHERS PRESENTING WITH JUVENILE RESTING TREMOR, Movement disorders, 9(4), 1994, pp. 460-462

LOCATION OF THE GENE CAUSING HYPERIMMUNOGLOBULINEMIA-D AND PERIODIC-FEVER-SYNDROME DIFFERS FROM THAT FOR FAMILIAL MEDITERRANEAN FEVER

Authors: DRENTH JPH MARIMAN ECM VANDERVELDEVISSER SD ROPERS HH VANDERMEER JWM WEEMAES CMR BIJLSMA JWJ DEGRAEFFMEEDER ER ALCALAY M CHAPELONABRIC C KAHN MF PRIEUR AM SIBILIA J MORAND C POWELL RJ TOPALOGLU R SAATCI U SCOLOZZI R LAZZARIN P MONCIOTTI CM DEMONTY J JILEK D MIYAGAWA S ESPANOL T

Citation: Jph. Drenth et al., LOCATION OF THE GENE CAUSING HYPERIMMUNOGLOBULINEMIA-D AND PERIODIC-FEVER-SYNDROME DIFFERS FROM THAT FOR FAMILIAL MEDITERRANEAN FEVER, Human genetics, 94(6), 1994, pp. 616-620

ICF SYNDROME - A NEW CASE AND REVIEW OF THE LITERATURE

Authors: SMEETS DFCM MOOG U WEEMAES CMR VAESPEETERS G MERKX GFM NIEHOF JP HAMERS G

Citation: Dfcm. Smeets et al., ICF SYNDROME - A NEW CASE AND REVIEW OF THE LITERATURE, Human genetics, 94(3), 1994, pp. 240-246

HIGH-DOSE INTRAVENOUS IMMUNOGLOBULIN TREATMENT IN CRYPTOGENIC WEST AND LENNOX-GASTAUT SYNDROME - AN ADD-ON STUDY

Authors: VANENGELEN BGM RENIER WO WEEMAES CMR STRENGERS PFW BERNSEN PJH NOTERMANS SLH

Citation: Bgm. Vanengelen et al., HIGH-DOSE INTRAVENOUS IMMUNOGLOBULIN TREATMENT IN CRYPTOGENIC WEST AND LENNOX-GASTAUT SYNDROME - AN ADD-ON STUDY, European journal of pediatrics, 153(10), 1994, pp. 762-769

POSTMORTEM FINDINGS IN THE NIJMEGEN BREAKAGE SYNDROME

Authors: VANDEKAA CA WEEMAES CMR WESSELING P SCHAAFSMA HE HARALDSSON A

Citation: Ca. Vandekaa et al., POSTMORTEM FINDINGS IN THE NIJMEGEN BREAKAGE SYNDROME, Pediatric pathology, 14(5), 1994, pp. 787-796

HYPERIMMUNOGLOBULINEMIA-D AND PERIODIC FEVER SYNDROME - THE CLINICAL SPECTRUM IN A SERIES OF 50 PATIENTS

Authors: DRENTH JPH HAAGSMA CJ VANDERMEER JWM WEEMAES CMR BIJLSMA JWJ DEGRAEFFMEEDER ER ALCALAY M CHAPELONABRIC C KAHN MF PRIEUR AM SIBILIA J POWELL RJ TOPALOGLU R SAATCI U SCOLOZZI R LAZZARIN P MONCIOTTI CM DEMONTY J JILEK D MIYAGAWA S ESPANOL T

Citation: Jph. Drenth et al., HYPERIMMUNOGLOBULINEMIA-D AND PERIODIC FEVER SYNDROME - THE CLINICAL SPECTRUM IN A SERIES OF 50 PATIENTS, Medicine, 73(3), 1994, pp. 133-144

IMMUNOGLOBULIN TREATMENT IN HUMAN AND EXPERIMENTAL EPILEPSY

Authors: VANENGELEN BGM RENIER WO WEEMAES CMR

Citation: Bgm. Vanengelen et al., IMMUNOGLOBULIN TREATMENT IN HUMAN AND EXPERIMENTAL EPILEPSY, Journal of Neurology, Neurosurgery and Psychiatry, 57, 1994, pp. 72-75

RAISED IGA KAPPA LAMBDA RATIO IN JUVENILE CHRONIC ARTHRITIS/

Authors: HARALDSSON A FISELIER T VANDIJK WJ BAKKEREN JAJM WEEMAES CMR

Citation: A. Haraldsson et al., RAISED IGA KAPPA LAMBDA RATIO IN JUVENILE CHRONIC ARTHRITIS/, Clinical and experimental rheumatology, 11(3), 1993, pp. 351-352

ANTIBODY DEFICIENCY AND ISOLATED GROWTH-HORMONE DEFICIENCY IN A GIRL WITH MULIBREY NANISM

Authors: HARALDSSON A VANDERBURGT CJAM WEEMAES CMR OTTEN B BAKKEREN JAJM STOELINGA GBA

Citation: A. Haraldsson et al., ANTIBODY DEFICIENCY AND ISOLATED GROWTH-HORMONE DEFICIENCY IN A GIRL WITH MULIBREY NANISM, European journal of pediatrics, 152(6), 1993, pp. 509-512

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