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Results: 1-25 | 26-33
Results: 1-25/33
SPECTRUM OF MUTATIONS IN FINNISH PATIENTS WITH CHARCOT-MARIE-TOOTH-DISEASE AND RELATED NEUROPATHIES
Authors: SILANDER K MERETOJA P JUVONEN V IGNATIUS J PIHKO H SAARINEN A WALLDEN T HERRGARD E AULA P SAVONTAUS ML
Citation: K. Silander et al., SPECTRUM OF MUTATIONS IN FINNISH PATIENTS WITH CHARCOT-MARIE-TOOTH-DISEASE AND RELATED NEUROPATHIES, Human mutation, 12(1), 1998, pp. 59-68
ASSIGNMENT OF THE DISEASE LOCUS FOR LETHAL CONGENITAL CONTRACTURE SYNDROME TO A RESTRICTED REGION OF CHROMOSOME 9Q34, BY GENOME SCAN USING 5 AFFECTED INDIVIDUALS
Authors: MAKELABENGS P JARVINEN N VUOPALA K SUOMALAINEN A IGNATIUS J SIPILA M HERVA R PALOTIE A PELTONEN L
Citation: P. Makelabengs et al., ASSIGNMENT OF THE DISEASE LOCUS FOR LETHAL CONGENITAL CONTRACTURE SYNDROME TO A RESTRICTED REGION OF CHROMOSOME 9Q34, BY GENOME SCAN USING 5 AFFECTED INDIVIDUALS, American journal of human genetics, 63(2), 1998, pp. 506-516
GENETIC-CONTROL OF SERUM IGE LEVELS AND ASTHMA - LINKAGE AND LINKAGE DISEQUILIBRIUM STUDIES IN AN ISOLATED POPULATION
Authors: LAITINEN T KAUPPI P IGNATIUS J RUOTSALAINEN T DALY MJ KAARIAINEN H KRUGLYAK L LAITINEN H DELACHAPELLE A LANDER ES LAITINEN LA KERE J
Citation: T. Laitinen et al., GENETIC-CONTROL OF SERUM IGE LEVELS AND ASTHMA - LINKAGE AND LINKAGE DISEQUILIBRIUM STUDIES IN AN ISOLATED POPULATION, Human molecular genetics, 6(12), 1997, pp. 2069-2076
GENE CONVERSION AT THE SMN LOCUS IN AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY DOES NOT PREDICT A MILD PHENOTYPE
Authors: TALBOT K RODRIGUES NR IGNATIUS J MUNTONI F DAVIES KE
Citation: K. Talbot et al., GENE CONVERSION AT THE SMN LOCUS IN AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY DOES NOT PREDICT A MILD PHENOTYPE, Neuromuscular disorders, 7(3), 1997, pp. 198-201
SPECTRUM OF CLINICAL-FEATURES ASSOCIATED WITH INTERSTITIAL CHROMOSOME22Q11 DELETIONS - A EUROPEAN COLLABORATIVE STUDY
Authors: RYAN AK GOODSHIP JA WILSON DI PHILIP N LEVY A SEIDEL H SCHUFFENHAUER S OECHSLER H BELOHRADSKY B PRIEUR M AURIAS A RAYMOND FL CLAYTONSMITH J HATCHWELL E MCKEOWN C BEEMER FA DALLAPICCOLA B NOVELLI G HURST JA IGNATIUS J GREEN AJ WINTER RM BRUETON L BRONDUMNIELSEN K STEWART F VANESSEN T PATTON M PATERSON J SCAMBLER PJ
Citation: Ak. Ryan et al., SPECTRUM OF CLINICAL-FEATURES ASSOCIATED WITH INTERSTITIAL CHROMOSOME22Q11 DELETIONS - A EUROPEAN COLLABORATIVE STUDY, Journal of Medical Genetics, 34(10), 1997, pp. 798-804
EXCLUSION OF 3 CANDIDATE SUSCEPTIBILITY REGIONS ON HUMAN-CHROMOSOMES 1Q31-Q42, 5Q23-Q32, AND 9Q22-P21 FOR SYSTEMIC LUPUS-ERYTHEMATOSUS (SLE) IN A FINNISH FOUNDER POPULATION
Authors: KRAHE R JULKUNEN H MANNILA H LOKKI H OLLIKAINEN V IGNATIUS J DELACHAPELLE A KERE J
Citation: R. Krahe et al., EXCLUSION OF 3 CANDIDATE SUSCEPTIBILITY REGIONS ON HUMAN-CHROMOSOMES 1Q31-Q42, 5Q23-Q32, AND 9Q22-P21 FOR SYSTEMIC LUPUS-ERYTHEMATOSUS (SLE) IN A FINNISH FOUNDER POPULATION, American journal of human genetics, 61(4), 1997, pp. 1638-1638
GENOTYPE PHENOTYPE CORRELATION IN CHILDHOOD AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY (SMA) BY PULSED-FIELD GEL ANALYSIS/
Authors: CAMPBELL L POTTER A IGNATIUS J MUNTONI F DUBOWITZ V DAVIES KE
Citation: L. Campbell et al., GENOTYPE PHENOTYPE CORRELATION IN CHILDHOOD AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY (SMA) BY PULSED-FIELD GEL ANALYSIS/, American journal of human genetics, 61(4), 1997, pp. 1934-1934
TRANSGLUTAMINASE-1 MUTATIONS IN AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS - PRIVATE AND RECURRENT MUTATIONS IN AN ISOLATED POPULATION
Authors: LAIHO E IGNATIUS J MIKKOLA H YEE VC TELLER DC NIEMI KM SAARIALHOKERE U KERE J PALOTIE A
Citation: E. Laiho et al., TRANSGLUTAMINASE-1 MUTATIONS IN AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS - PRIVATE AND RECURRENT MUTATIONS IN AN ISOLATED POPULATION, American journal of human genetics, 61(3), 1997, pp. 529-538
GENOMIC VARIATION AND GENE CONVERSION IN SPINAL MUSCULAR-ATROPHY - IMPLICATIONS FOR DISEASE PROCESS AND CLINICAL PHENOTYPE
Authors: CAMPBELL L POTTER A IGNATIUS J DUBOWITZ V DAVIES K
Citation: L. Campbell et al., GENOMIC VARIATION AND GENE CONVERSION IN SPINAL MUSCULAR-ATROPHY - IMPLICATIONS FOR DISEASE PROCESS AND CLINICAL PHENOTYPE, American journal of human genetics, 61(1), 1997, pp. 40-50
HAUSMANOWAPETRUSEWICZ,IRENA 50 YEARS FOR NEUROLOGY AND NEUROMUSCULAR DISEASES
Authors: IGNATIUS J
Citation: J. Ignatius, HAUSMANOWAPETRUSEWICZ,IRENA 50 YEARS FOR NEUROLOGY AND NEUROMUSCULAR DISEASES, Neuromuscular disorders, 6(2), 1996, pp. 121-123
SPLIT HAND SPLIT FOOT MALFORMATION, DEAFNESS, AND MENTAL-RETARDATION WITH A COMPLEX CYTOGENETIC REARRANGEMENT INVOLVING 7Q21.3/
Authors: IGNATIUS J KNUUTILA S SCHERER SW TRASK B KERE J
Citation: J. Ignatius et al., SPLIT HAND SPLIT FOOT MALFORMATION, DEAFNESS, AND MENTAL-RETARDATION WITH A COMPLEX CYTOGENETIC REARRANGEMENT INVOLVING 7Q21.3/, Journal of Medical Genetics, 33(6), 1996, pp. 507-510
GENE DELETIONS IN SPINAL MUSCULAR-ATROPHY
Authors: RODRIGUES NR OWEN N TALBOT K PATEL S MUNTONI F IGNATIUS J DUBOWITZ V DAVIES KE
Citation: Nr. Rodrigues et al., GENE DELETIONS IN SPINAL MUSCULAR-ATROPHY, Journal of Medical Genetics, 33(2), 1996, pp. 93-96
DELETIONS IN THE SURVIVAL MOTOR-NEURON GENE ON 5Q13 IN AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY
Authors: RODRIGUES NR OWEN N TALBOT K IGNATIUS J DUBOWITZ V DAVIES KE
Citation: Nr. Rodrigues et al., DELETIONS IN THE SURVIVAL MOTOR-NEURON GENE ON 5Q13 IN AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY, Human molecular genetics, 4(4), 1995, pp. 631-634
SMN GENE DELETION IN VARIANT OF INFANTILE SPINAL MUSCULAR-ATROPHY
Authors: BURGLEN L SPIEGEL R IGNATIUS J COBBEN JM LANDRIEU P LEFEBVRE S MUNNICH A MELKI J
Citation: L. Burglen et al., SMN GENE DELETION IN VARIANT OF INFANTILE SPINAL MUSCULAR-ATROPHY, Lancet, 346(8970), 1995, pp. 316-317
LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE
Authors: VUOPALA K IGNATIUS J HERVA R
Citation: K. Vuopala et al., LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE, Human pathology, 26(1), 1995, pp. 12-19
CLINICAL-FEATURES OF 9 MALES WITH MOLECULARLY DEFINED DELETIONS OF THE Y-CHROMOSOME LONG ARM
Authors: SALO P IGNATIUS J SIMOLA KOJ TAHVANAINEN E KAARIAINEN H
Citation: P. Salo et al., CLINICAL-FEATURES OF 9 MALES WITH MOLECULARLY DEFINED DELETIONS OF THE Y-CHROMOSOME LONG ARM, Journal of Medical Genetics, 32(9), 1995, pp. 711-715
GENOMIC REARRANGEMENTS IN CHILDHOOD SPINAL MUSCULAR-ATROPHY - LINKAGEDISEQUILIBRIUM WITH A NULL ALLELE
Authors: DANIELS RJ CAMPBELL L RODRIGUES NR FRANCIS MJ MORRISON KE MCLEAN M MACKENZIE A IGNATIUS J DUBOWITZ V DAVIES KE
Citation: Rj. Daniels et al., GENOMIC REARRANGEMENTS IN CHILDHOOD SPINAL MUSCULAR-ATROPHY - LINKAGEDISEQUILIBRIUM WITH A NULL ALLELE, Journal of Medical Genetics, 32(2), 1995, pp. 93-96
USE TAME AND HEAVIER ETHERS TO IMPROVE GASOLINE PROPERTIES
Authors: IGNATIUS J JARVELIN R LINDQVIST P
Citation: J. Ignatius et al., USE TAME AND HEAVIER ETHERS TO IMPROVE GASOLINE PROPERTIES, Hydrocarbon processing, 74(2), 1995, pp. 51-53
MOLECULAR ANALYSIS OF CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY
Authors: THEODOSIOU AM RODRIGUES NR TALBOT K CAMPBELL L NESBIT MA OWEN N AMBROSE H MUNTONI F PATEL S IGNATIUS J DUBOWITZ V DAVIES KE
Citation: Am. Theodosiou et al., MOLECULAR ANALYSIS OF CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY, American journal of human genetics, 57(4), 1995, pp. 106-106
PHYSICAL MAPPING OF THE SPLIT HAND SPLIT FOOT LOCUS ON CHROMOSOME-7 AND IMPLICATION IN SYNDROMIC ECTRODACTYLY
Authors: SCHERER SW POORKAJ P MASSA H SODER S ALLEN T NUNES M GESHURI D WONG E BELLONI E LITTLE S ZHOU LM BECKER D KERE J IGNATIUS J NIIKAWA N FUKUSHIMA Y HASEGAWA T WEISSENBACH J BONCINELLI E TRASK B TSUI LC EVANS JP
Citation: Sw. Scherer et al., PHYSICAL MAPPING OF THE SPLIT HAND SPLIT FOOT LOCUS ON CHROMOSOME-7 AND IMPLICATION IN SYNDROMIC ECTRODACTYLY, Human molecular genetics, 3(8), 1994, pp. 1345-1354
THE NATURAL-HISTORY OF SEVERE SPINAL MUSCULAR-ATROPHY - FURTHER EVIDENCE FOR CLINICAL SUBTYPES
Authors: IGNATIUS J
Citation: J. Ignatius, THE NATURAL-HISTORY OF SEVERE SPINAL MUSCULAR-ATROPHY - FURTHER EVIDENCE FOR CLINICAL SUBTYPES, Neuromuscular disorders, 4(5-6), 1994, pp. 527-528
VELOPHARYNGEAL INSUFFICIENCY FOLLOWING PALATINE TONSILLECTOMY
Authors: HAAPANEN ML IGNATIUS J RIHKANEN H ERTAMA L
Citation: Ml. Haapanen et al., VELOPHARYNGEAL INSUFFICIENCY FOLLOWING PALATINE TONSILLECTOMY, European archives of oto-rhino-laryngology, 251(3), 1994, pp. 186-189
ELECTROSTATIC SOLUTIONS FOR A CAPACITIVE ULTRASONIC AIR TRANSDUCER WITH A UNIFORMLY V-GROOVED BACKPLATE
Authors: HIETANEN J IGNATIUS J STORPELLINEN J
Citation: J. Hietanen et al., ELECTROSTATIC SOLUTIONS FOR A CAPACITIVE ULTRASONIC AIR TRANSDUCER WITH A UNIFORMLY V-GROOVED BACKPLATE, Sensors and actuators. A, Physical, 45(2), 1994, pp. 95-98
LARGE-SCALE INHOMOGENEITIES FROM THE QCD PHASE-TRANSITION
Authors: IGNATIUS J KAJANTIE K KURKISUONIO H LAINE M
Citation: J. Ignatius et al., LARGE-SCALE INHOMOGENEITIES FROM THE QCD PHASE-TRANSITION, Physical review. D. Particles and fields, 50(6), 1994, pp. 3738-3745
GROWTH OF BUBBLES IN COSMOLOGICAL PHASE-TRANSITIONS
Authors: IGNATIUS J KAJANTIE K KURKISUONIO H LAINE M
Citation: J. Ignatius et al., GROWTH OF BUBBLES IN COSMOLOGICAL PHASE-TRANSITIONS, Physical review. D. Particles and fields, 49(8), 1994, pp. 3854-3868
Risultati: 1-25 | 26-33