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Results: 1-25 | 26-36
Results: 1-25/36
THE BLOOD-BANK AND HEPATITIS-G
Authors: ARAUJO F KOCH MC MONTEIRO F ARAUJO AR
Citation: F. Araujo et al., THE BLOOD-BANK AND HEPATITIS-G, Transfusion science, 19(2), 1998, pp. 119-120
THE MOLECULAR-GENETIC APPROACH TO BARTTERS-SYNDROME
Authors: KAROLYI L KOCH MC GRZESCHIK KH SEYBERTH HW
Citation: L. Karolyi et al., THE MOLECULAR-GENETIC APPROACH TO BARTTERS-SYNDROME, Journal of molecular medicine, 76(5), 1998, pp. 317-325
EVALUATION OF THE MTHFR C677T ALLELE AND THE MTHFR GENE LOCUS IN A GERMAN SPINA-BIFIDA POPULATION
Authors: KOCH MC STEGMANN K ZIEGLER A SCHROTER B ERMERT A
Citation: Mc. Koch et al., EVALUATION OF THE MTHFR C677T ALLELE AND THE MTHFR GENE LOCUS IN A GERMAN SPINA-BIFIDA POPULATION, European journal of pediatrics, 157(6), 1998, pp. 487-492
ROUTINE SCREENING OF BLOOD DONATIONS FOR HCV RNA
Authors: ARAUJO FM KOCH MC HENRIQUES I MONTEIRO F ARAUJO AR CUNHARIBEIRO LM
Citation: Fm. Araujo et al., ROUTINE SCREENING OF BLOOD DONATIONS FOR HCV RNA, Vox sanguinis, 74(3), 1998, pp. 211-211
HEPATITIS-E IN PORTUGUESE HEMOPHILIACS AND BLOOD-DONORS
Authors: ARAUJO F KOCH MC MONTEIRO F ARAUJO AR CUNHARIBEIRO LM
Citation: F. Araujo et al., HEPATITIS-E IN PORTUGUESE HEMOPHILIACS AND BLOOD-DONORS, Haemophilia, 3(3), 1997, pp. 219-220
A COMMON NKCC2 MUTATION IN COSTA-RICAN BARTTERS-SYNDROME PATIENTS - EVIDENCE FOR A FOUNDER EFFECT
Authors: KURTZ CL KAROLYI L SEYBERTH HW KOCH MC VARGAS R FELDMANN D VOLLMER M KNOERS NVAM MADRIGAL G GUAYWOODFORD LM
Citation: Cl. Kurtz et al., A COMMON NKCC2 MUTATION IN COSTA-RICAN BARTTERS-SYNDROME PATIENTS - EVIDENCE FOR A FOUNDER EFFECT, Journal of the American Society of Nephrology, 8(11), 1997, pp. 1706-1711
MUTATIONS IN THE GENE ENCODING THE INWARDLY-RECTIFYING RENAL POTASSIUM CHANNEL, ROMK, CAUSE THE ANTENATAL VARIANT OF BARTTER-SYNDROME - EVIDENCE FOR GENETIC-HETEROGENEITY (VOL 6, PG 17, 1997)
Authors: KAROLYI L KONRAD M KOCKERLING A ZIEGLER A ZIMMERMANN DK ROTH B WIEG C GRZESCHIK KH KOCH MC SEYBERTH HW VARGAS R FORESTIER L JEAN G DESCHAUX M RIZZONI GF NIAUDET P ANTIGNAC C FELDMANN D LORRIDON F COUGOUREUX E LAROZE F ALESSANDRI JL DAVID L SAUNIER P DESCHENES G HILDEBRANDT F VOLLMER M PROESMANS W BRANDIS M VANDENHEUVEL LPWJ LEMMINK HH NILLESEN W MONNENS LAH KNOERS NVAM GUAYWOODFORD LM WRIGHT CJ MADRIGAL G HEBERT SC
Citation: L. Karolyi et al., MUTATIONS IN THE GENE ENCODING THE INWARDLY-RECTIFYING RENAL POTASSIUM CHANNEL, ROMK, CAUSE THE ANTENATAL VARIANT OF BARTTER-SYNDROME - EVIDENCE FOR GENETIC-HETEROGENEITY (VOL 6, PG 17, 1997), Human molecular genetics, 6(4), 1997, pp. 650-650
MUTATIONS IN THE GENE ENCODING THE INWARDLY-RECTIFYING RENAL POTASSIUM CHANNEL, ROMK, CAUSE THE ANTENATAL VARIANT OF BARTTER-SYNDROME - EVIDENCE FOR GENETIC-HETEROGENEITY
Authors: KAROLYI L KONRAD M KOCKERLING A ZIEGLER A ZIMMERMANN DK ROTH B WIEG C GRZESCHIK KH KOCH MC SEYBERTH HW VARGAS R FORESTIER L JEAN G DESCHAUX M RIZZONI GF NIAUDET P ANTIGNAC C FELDMANN D LORRIDON F COUGOUREUX E LAROZE F ALESSANDRI JL DAVID L SAUNIER P DESCHENES G HILDEBRANDT F VOLLMER M PROESMANS W BRANDIS M VANDENHEUVEL LPJ LEMMINK HH NILLESEN W MONNENS LAH KNOERS NVAM GUAYWOODFORD LM WRIGHT CJ MADRIGAL G HEBERT SC
Citation: L. Karolyi et al., MUTATIONS IN THE GENE ENCODING THE INWARDLY-RECTIFYING RENAL POTASSIUM CHANNEL, ROMK, CAUSE THE ANTENATAL VARIANT OF BARTTER-SYNDROME - EVIDENCE FOR GENETIC-HETEROGENEITY, Human molecular genetics, 6(1), 1997, pp. 17-26
HEPATITIS-C VIRUS TYPE-4 IN PORTUGUESE HEMOPHILIACS
Authors: ARAUJO F KOCH MC HENRIQUES I ARAUJO AR CUNHARIBEIRO L
Citation: F. Araujo et al., HEPATITIS-C VIRUS TYPE-4 IN PORTUGUESE HEMOPHILIACS, Thrombosis and haemostasis, 77(4), 1997, pp. 805-805
PROXIMAL MYOTONIC MYOPATHY WITH MRI WHITE-MATTER ABNORMALITIES OF THEBRAIN
Authors: HUND E JANSEN O KOCH MC RICKER K FOGEL W NIEDERMAIER N OTTO M KUHN E MEINCK HM
Citation: E. Hund et al., PROXIMAL MYOTONIC MYOPATHY WITH MRI WHITE-MATTER ABNORMALITIES OF THEBRAIN, Neurology, 48(1), 1997, pp. 33-37
GITELMANS-SYNDROME IS GENETICALLY DISTINCT FROM OTHER FORMS OF BARTTERS-SYNDROME
Authors: KAROLYI L ZIEGLER A POLLAK M FISCHBACH M GRZESCHIK KH KOCH MC SEYBERTH HW
Citation: L. Karolyi et al., GITELMANS-SYNDROME IS GENETICALLY DISTINCT FROM OTHER FORMS OF BARTTERS-SYNDROME, Pediatric nephrology, 10(5), 1996, pp. 551-554
GERMLINE MOSAICISM IN 4Q35 FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD1A) OCCURRING PREDOMINANTLY IN OOGENESIS
Authors: KOHLER J RUPILIUS B OTTO M BATHKE K KOCH MC
Citation: J. Kohler et al., GERMLINE MOSAICISM IN 4Q35 FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD1A) OCCURRING PREDOMINANTLY IN OOGENESIS, Human genetics, 98(4), 1996, pp. 485-490
CARDIAC INVOLVEMENT IN FACIO-SCAPULO-HUMERAL MUSCULAR-DYSTROPHY - A FAMILY STUDY USING TL-201 SINGLE-PHOTON-EMISSION-COMPUTED TOMOGRAPHY
Authors: FAUSTMANN PM FARAHATI J RUPILIUS B DUX R KOCH MC REINERS C
Citation: Pm. Faustmann et al., CARDIAC INVOLVEMENT IN FACIO-SCAPULO-HUMERAL MUSCULAR-DYSTROPHY - A FAMILY STUDY USING TL-201 SINGLE-PHOTON-EMISSION-COMPUTED TOMOGRAPHY, Journal of the neurological sciences, 144(1-2), 1996, pp. 59-63
CORRELATION BETWEEN FRAGMENT SIZE AT D4F104S1 AND AGE AT ONSET OR AT WHEELCHAIR USE, WITH A POSSIBLE GENERATIONAL-EFFECT, ACCOUNTS FOR MUCHPHENOTYPIC VARIATION IN 4Q35-FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD) (VOL 4, PG 951, 1995)
Authors: LUNT PW JARDINE PE KOCH MC MAYNARD J OSBORN M WILLIAMS M HARPER PS UPADHYAYA M
Citation: Pw. Lunt et al., CORRELATION BETWEEN FRAGMENT SIZE AT D4F104S1 AND AGE AT ONSET OR AT WHEELCHAIR USE, WITH A POSSIBLE GENERATIONAL-EFFECT, ACCOUNTS FOR MUCHPHENOTYPIC VARIATION IN 4Q35-FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD) (VOL 4, PG 951, 1995), Human molecular genetics, 4(7), 1995, pp. 1243-1244
CORRELATION BETWEEN FRAGMENT SIZE AT D4F104S1 AND AGE AT ONSET OR AT WHEELCHAIR USE, WITH A POSSIBLE GENERATIONAL-EFFECT, ACCOUNTS FOR MUCHPHENOTYPIC VARIATION IN 4Q35-FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD)
Authors: LUNT PW JARDINE PE KOCH MC MAYNARD J OSBORN M WILLIAMS M HARPER PS UPADHYAYA M
Citation: Pw. Lunt et al., CORRELATION BETWEEN FRAGMENT SIZE AT D4F104S1 AND AGE AT ONSET OR AT WHEELCHAIR USE, WITH A POSSIBLE GENERATIONAL-EFFECT, ACCOUNTS FOR MUCHPHENOTYPIC VARIATION IN 4Q35-FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD), Human molecular genetics, 4(5), 1995, pp. 951-958
PARAMYOTONIA-CONGENITA WITHOUT PARALYSIS ON EXPOSURE TO COLD - A NOVEL MUTATION IN THE SCN4A GENE (VAL1293ILE)
Authors: KOCH MC BAUMBACH K GEORGE AL RICKER K
Citation: Mc. Koch et al., PARAMYOTONIA-CONGENITA WITHOUT PARALYSIS ON EXPOSURE TO COLD - A NOVEL MUTATION IN THE SCN4A GENE (VAL1293ILE), NeuroReport, 6(15), 1995, pp. 2001-2004
PREVALENCE OF PARVOVIRUS B19 INFECTION IN PORTUGAL
Authors: ARAUJO FM KOCH MC ARAUJO AR
Citation: Fm. Araujo et al., PREVALENCE OF PARVOVIRUS B19 INFECTION IN PORTUGAL, Blood coagulation & fibrinolysis, 6(7), 1995, pp. 687-687
MUTATIONS IN DOMINANT HUMAN MYOTONIA-CONGENITA DRASTICALLY ALTER THE VOLTAGE-DEPENDENCE OF THE CIC-1 CHLORIDE CHANNEL
Authors: PUSCH M STEINMEYER K KOCH MC JENTSCH TJ
Citation: M. Pusch et al., MUTATIONS IN DOMINANT HUMAN MYOTONIA-CONGENITA DRASTICALLY ALTER THE VOLTAGE-DEPENDENCE OF THE CIC-1 CHLORIDE CHANNEL, Neuron, 15(6), 1995, pp. 1455-1463
MUTATION DETECTION IN THE CLCN1 GENE OF PATIENTS WITH MYOTONIA-CONGENITA THOMSEN AND GENERALIZED MYOTONIA BECKER
Authors: KOCH MC MEYERKLEIN C OTTO M RICKER K LORENZ C STEINMEYER K JENTSCH RJ
Citation: Mc. Koch et al., MUTATION DETECTION IN THE CLCN1 GENE OF PATIENTS WITH MYOTONIA-CONGENITA THOMSEN AND GENERALIZED MYOTONIA BECKER, Cytogenetics and cell genetics, 71(1), 1995, pp. 30-30
PROXIMAL MYOTONIC MYOPATHY SYNDROME IN THE ABSENCE OF TRINUCLEOTIDE REPEAT EXPANSIONS
Authors: STOLL G VONGIESEN HJ KOCH MC ARENDT G BENECKE R
Citation: G. Stoll et al., PROXIMAL MYOTONIC MYOPATHY SYNDROME IN THE ABSENCE OF TRINUCLEOTIDE REPEAT EXPANSIONS, Muscle & nerve, 18(7), 1995, pp. 782-783
MONOTONIC DYSTROPHY - MAGNETIC-RESONANCE- IMAGING AND CLINICAL-GENETIC CORRELATIONS
Authors: DAMIAN MS KOCH MC BACHMANN G SCHILLING G FACH B STOPPLER S TRITTMACHER S DORNDORF W
Citation: Ms. Damian et al., MONOTONIC DYSTROPHY - MAGNETIC-RESONANCE- IMAGING AND CLINICAL-GENETIC CORRELATIONS, Nervenarzt, 66(6), 1995, pp. 438-444
PROMM - PROXIMAL MYOTONIC MYOPATHY, A NEW MYOTONIC DISORDER
Authors: KOCH MC RICKER K LEHMANNHORN F PONGRATZ D
Citation: Mc. Koch et al., PROMM - PROXIMAL MYOTONIC MYOPATHY, A NEW MYOTONIC DISORDER, Journal of Medical Genetics, 32(2), 1995, pp. 148-148
PROXIMAL MYOTONIC MYOPATHY - CLINICAL-FEATURES OF A MULTISYSTEM DISORDER SIMILAR TO MYOTONIC-DYSTROPHY
Authors: RICKER K KOCH MC LEHMANNHORN F PONGRATZ D SPEICH N REINERS K SCHNEIDER C MOXLEY RT
Citation: K. Ricker et al., PROXIMAL MYOTONIC MYOPATHY - CLINICAL-FEATURES OF A MULTISYSTEM DISORDER SIMILAR TO MYOTONIC-DYSTROPHY, Archives of neurology, 52(1), 1995, pp. 25-31
SPECTRUM OF MUTATIONS IN THE MAJOR HUMAN SKELETAL-MUSCLE CHLORIDE CHANNEL GENE (CLCNUI) LEADING TO MYOTONIA
Authors: MEYERKLEINE C STEINMEYER K RICKER K JENTSCH TJ KOCH MC
Citation: C. Meyerkleine et al., SPECTRUM OF MUTATIONS IN THE MAJOR HUMAN SKELETAL-MUSCLE CHLORIDE CHANNEL GENE (CLCNUI) LEADING TO MYOTONIA, American journal of human genetics, 57(6), 1995, pp. 1325-1334
GENOMIC ORGANIZATION OF THE HUMAN MUSCLE CHLORIDE CHANNEL CIC-1 AND ANALYSIS OF NOVEL MUTATIONS LEADING TO BECKER-TYPE MYOTONIA
Authors: LORENZ C MEYERKLEINE C STEINMEYER K KOCH MC JENTSCH TJ
Citation: C. Lorenz et al., GENOMIC ORGANIZATION OF THE HUMAN MUSCLE CHLORIDE CHANNEL CIC-1 AND ANALYSIS OF NOVEL MUTATIONS LEADING TO BECKER-TYPE MYOTONIA, Human molecular genetics, 3(6), 1994, pp. 941-946
Risultati: 1-25 | 26-36