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Results:
1-21
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Results: 21
Authors:
DORK T
SCHNIEDERS F
JAKUBICZKA S
WIEACKER P
SCHROEDERKURTH T
SCHMIDTKE J
Citation: T. Dork et al., A NEW MISSENSE SUBSTITUTION AT A MUTATIONAL HOT-SPOT OF THE ANDROGEN RECEPTOR IN SIBLINGS WITH COMPLETE ANDROGEN INSENSITIVITY SYNDROME, Human mutation, 11(4), 1998, pp. 337-339
Authors:
KLAMT B
KOZIELL A
POULAT F
WIEACKER P
SCAMBLER P
BERTA P
GESSLER M
Citation: B. Klamt et al., FRASIER-SYNDROME IS CAUSED BY DEFECTIVE ALTERNATIVE SPLICING OF WT1 LEADING TO AN ALTERED RATIO OF WT1 + -KTS SPLICE ISOFORMS/, Human molecular genetics, 7(4), 1998, pp. 709-714
Authors:
DIECK ST
SANMARTIVILA L
STUMM M
KAMPF U
LANGNASE K
DRESBACH R
WIEACKER P
GUNDELFINGER ED
Citation: St. Dieck et al., BASSOON, A NOVEL PRESYNAPTIC CYTOMATRIX PROTEIN, CONTAINS N-TERMINAL ZN2-FINGER MOTIFS AND A C-TERMINAL POLY-GLUTAMINE STRETCH(), European journal of neuroscience, 10, 1998, pp. 6212-6212
Authors:
BANNIER E
DEGEN B
MITTLER U
ZINTL F
REISS T
RIESKE K
BRUCKNER R
KROPF S
WIEACKER P
Citation: E. Bannier et al., MULTIPLICATION OF CHROMOSOMES AND PRIMARY LEUKOCYTE NUMBER IN CHILDHOOD ALL AND HYPERDIPLOID KARYOTYPE, Klinische Padiatrie, 210(6), 1998, pp. 395-399
Authors:
KREBS P
WIEACKER P
Citation: P. Krebs et P. Wieacker, A CASE OF COFFIN-SIRIS-SYNDROME, Monatsschrift fur Kinderheilkunde, 146(6), 1998, pp. 594-596
Authors:
MUSEBECK J
SCHULZE R
STEINBICKER V
WIEACKER P
Citation: J. Musebeck et al., JUVENILE PARODONTOPATHY IN A CASE OF EHLE RS-DANLOS-SYNDROME TYPE-VIII, Monatsschrift fur Kinderheilkunde, 146(1), 1998, pp. 20-22
Authors:
JAKUBICZKA S
MOHNIKE K
WIEACKER P
Citation: S. Jakubiczka et al., TURNERS-SYNDROME - PCR-BASED SCREENING FO R HIDDEN Y-CHROMOSOME, Geburtshilfe und Frauenheilkunde, 58(2), 1998, pp. 69-72
Authors:
JAKUBICZKA S
NEDEL S
WERDER EA
SCHLEIERMACHER E
THEILE U
WOLFF G
WIEACKER P
Citation: S. Jakubiczka et al., MUTATIONS OF THE ANDROGEN RECEPTOR GENE IN PATIENTS WITH COMPLETE ANDROGEN INSENSITIVITY, Human mutation, 9(1), 1997, pp. 57-61
Authors:
WOLLNIK B
SCHROEDER BC
KUBISCH C
ESPERER HD
WIEACKER P
JENTSCH TJ
Citation: B. Wollnik et al., PATHOPHYSIOLOGICAL MECHANISMS OF DOMINANT AND RECESSIVE KVLQT1 K-ARRHYTHMIAS( CHANNEL MUTATIONS FOUND IN INHERITED CARDIAC), Human molecular genetics, 6(11), 1997, pp. 1943-1949
Authors:
WIEACKER P
Citation: P. Wieacker, GENETIC-ASPECTS OF MALE-INFERTILITY, Archives of gynecology and obstetrics, 260(1-4), 1997, pp. 567-569
Authors:
KLOOS DU
JAKUBICZKA S
WIENKER T
WOLFF G
WIEACKER P
Citation: Du. Kloos et al., LOCALIZATION OF THE GENE FOR WIEACKER-WOLFF-SYNDROME IN THE PERICENTROMERIC REGION OF THE X-CHROMOSOME, Human genetics, 100(3-4), 1997, pp. 426-430
Authors:
WIEACKER P
JAKUBICZKA S
Citation: P. Wieacker et S. Jakubiczka, GENETIC CAUSES OF MALE-INFERTILITY, Andrologia, 29(2), 1997, pp. 63-69
Authors:
KNOKE I
JAKUBICZKA S
OTTERSEN T
GOPPINGER A
WIEACKER P
Citation: I. Knoke et al., A(870)E MUTATION OF THE ANDROGEN RECEPTOR GENE IN A PATIENT WITH COMPLETE ANDROGEN INSENSITIVITY SYNDROME AND SERTOLI-CELL TUMOR, Cancer genetics and cytogenetics, 98(2), 1997, pp. 139-141
Authors:
MERTSALOV IB
STUMM M
WIEACKER P
DIECK ST
GUNDELFINGER E
TSETLIN VI
Citation: Ib. Mertsalov et al., THE STRUCTURE AND CHROMOSOMAL LOCALIZATIO N OF THE HUMAN NEUROGRANIN GENE, Bioorganiceskaa himia, 23(12), 1997, pp. 961-968
Authors:
JAKUBICZKA S
QUAISER A
NICKEL I
KLEINSTEIN J
WIEACKER P
Citation: S. Jakubiczka et al., MOLECULAR-GENETIC STUDIES AT THE ANDROGEN RECEPTOR-GENE IN FEMALE-PATIENTS WITH PCO SYNDROME, Geburtshilfe und Frauenheilkunde, 57(10), 1997, pp. 545-548
Authors:
WIEACKER P
VONMUHLENDAHL KE
Citation: P. Wieacker et Ke. Vonmuhlendahl, DISORDER OF 17-BETA-HYDROSTEROID DEHYDROG ENASE IN 2 SIBS WITH HYPERGONADOTROPIC HYPOGONADISM, Geburtshilfe und Frauenheilkunde, 56(9), 1996, pp. 491-493
Authors:
WIEACKER P
MISSBACH D
JAKUBICZKA S
ALBERS N
Citation: P. Wieacker et al., SEX REVERSAL IN A CHILD WITH THE KARYOTYPE 46, XY, DUP(1) (P22.3P32.3), Clinical genetics, 49(5), 1996, pp. 271-273
Authors:
TASSABEHJI M
NEWTON VE
LIU XZ
BRADY A
DONNAI D
KRAJEWSKAWALASEK M
MURDAY V
NORMAN A
OBERSZTYN E
REARDON W
RICE JC
TREMBATH R
WIEACKER P
WHITEFORD M
WINTER R
READ AP
Citation: M. Tassabehji et al., THE MUTATIONAL SPECTRUM IN WAARDENBURG SYNDROME, Human molecular genetics, 4(11), 1995, pp. 2131-2137
Authors:
SCHUTGENS RBH
WANDERS RJA
JAKOBS C
ARSLANKIRCHNER M
MILLER K
WIEACKER P
HUNNEMANN D
HURTER P
VONSCHUTZ M
Citation: Rbh. Schutgens et al., A NEW VARIANT OF ZELLWEGER-SYNDROME WITH NORMAL PEROXISOMAL FUNCTIONSIN CULTURED FIBROBLASTS, Journal of inherited metabolic disease, 17(3), 1994, pp. 319-322
Authors:
KONIG A
JAKUBICZKA S
WIEACKER P
SCHLOSSER HW
GESSLER M
Citation: A. Konig et al., FURTHER EVIDENCE THAT IMBALANCE OF WT1 ISOFORMS MAY BE INVOLVED IN DENYS - DRASH SYNDROME, Human molecular genetics, 2(11), 1993, pp. 1967-1968
Authors:
BECKMANN MW
DERESER MM
WIEACKER P
FLECKEN U
BRECKWOLDT M
Citation: Mw. Beckmann et al., INFLUENCE OF STEROID-HORMONES ON 5ALPHA-R EDUCTASE ACTIVITY OF FEMALEAND MALE GENITAL SKIN FIBROBLASTS IN-VITRO, Archives of gynecology and obstetrics, 254(1-4), 1993, pp. 151-153
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