AAAAAA
Results:
1-14
|
Results: 14
Authors:
GOLLA A
BOERGEN KP
RUDOLPH G
WILLMEROTH C
SCHWORM H
MURKEN J
MEITINGER T
Citation: A. Golla et al., GENETIC-HETEROGENEITY OF CONGENITAL FIBROSIS OF THE EXTRAOCULAR-MUSCLES (CFEOM), European journal of human genetics, 6, 1998, pp. 4136-4136
Authors:
GOLLA A
LICHTNER P
VONGERNET S
WINTERPACHT A
FAIRLEY J
MURKEN J
SCHUFFENHAUER S
Citation: A. Golla et al., PHENOTYPIC-EXPRESSION OF THE FIBROBLAST-GROWTH-FACTOR-RECEPTOR-3 (FGFR3) MUTATION P250R IN A LARGE CRANIOSYNOSTOSIS FAMILY, Journal of Medical Genetics, 34(8), 1997, pp. 683-684
Authors:
STUHRMANN M
DORK T
FRUHWIRTH M
GOLLA A
SKAWRAN B
ANTONIN W
EBHARDT M
LOOS A
ELLEMUNTER H
SCHMIDTKE J
Citation: M. Stuhrmann et al., DETECTION OF 100-PERCENT OF THE CFTR MUTATIONS IN 63 CF FAMILIES FROMTYROL, Clinical genetics, 52(4), 1997, pp. 240-246
Authors:
SCHINDELHAUER D
WEISS M
HELLEBRAND H
GOLLA A
HERGERSBERG M
SEGER R
BELOHRADSKY BH
MEINDL A
Citation: D. Schindelhauer et al., WISKOTT-ALDRICH SYNDROME - NO STRICT GENOTYPE-PHENOTYPE CORRELATIONS BUT CLUSTERING OF MISSENSE MUTATIONS IN THE AMINO-TERMINAL PART OF THEWASP GENE-PRODUCT, Human genetics, 98(1), 1996, pp. 68-76
Authors:
TUMMLER B
STORRS T
DZIADEK V
DORK T
MEITINGER T
GOLLA A
BERTELEHARMS RM
HARMS HK
SCHRODER E
CLAASS A
RUTJES J
SCHNEPPENHEIM R
BAUER I
BREUEL K
STUHRMANN M
SCHMIDTKE J
LINDNER M
EIGEL A
HORST J
KAISER R
LENTZE MJ
SCHMIDT K
VONDERHARDT H
ESTIVILL X
Citation: B. Tummler et al., GEOGRAPHIC-DISTRIBUTION AND ORIGIN OF CFTR MUTATIONS IN GERMANY, Human genetics, 97(6), 1996, pp. 727-731
Authors:
HOLINSKIFEDER E
GOLLA A
ROST I
SEIDEL H
RITTINGER O
MEINDL A
Citation: E. Holinskifeder et al., REGIONAL LOCALIZATION OF 2 MRX GENES TO XQ28 (MRX28) AND TO XP11.4-XP22.12 (MRX33), American journal of medical genetics, 64(1), 1996, pp. 125-130
Authors:
VONGERNET S
SCHUFFENHAUER S
GOLLA A
LICHTNER P
BALG S
MUHLBAUER W
MURKEN J
FAIRLEY J
MEITINGER T
Citation: S. Vongernet et al., CRANIOSYNOSTOSIS SUGGESTIVE OF SAETHRE-CHOTZEN SYNDROME - CLINICAL DESCRIPTION OF A LARGE KINDRED AND EXCLUSION OF CANDIDATE REGIONS ON 7P, American journal of medical genetics, 63(1), 1996, pp. 177-184
Authors:
HORNVONHOEGEN M
GOLLA A
Citation: M. Hornvonhoegen et A. Golla, ADSORBATE-INDUCED CHANGE OF EQUILIBRIUM SURFACE DURING CRYSTAL-GROWTH- SI ON SI(111) H/, Physical review letters, 76(16), 1996, pp. 2953-2956
Authors:
HORNVONHOEGEN M
GOLLA A
Citation: M. Hornvonhoegen et A. Golla, INFLUENCE OF H ON LOW-TEMPERATURE SI(111) HOMOEPITAXY, Surface science, 337(1-2), 1995, pp. 777-782
Authors:
MULLER B
GOLLA A
Citation: B. Muller et A. Golla, AN EVALUATION OF FASTMAP WITH EMPHASIS ON FINE-MAPPING, Human heredity, 45(4), 1995, pp. 199-205
Authors:
DEUFEL A
DEUFEL T
GOLLA A
ACHATZ H
BERTELEHARMS R
ROSCHER AA
MEITINGER T
Citation: A. Deufel et al., 3 NOVEL MUTATIONS (I506S, S466X, 1651A-]T) IN EXON-10 OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) DETECTED IN PATIENTS OF SOUTHERN GERMAN DESCENT, Human mutation, 3(1), 1994, pp. 64-66
Authors:
GOLLA A
DEUFEL A
AULEHLASCHOLZ C
BOHM I
HILZ B
MEITINGER T
DEUFEL T
Citation: A. Golla et al., IDENTIFICATION OF A NOVEL MISSENSE MUTATION (G314E) IN EXON-7 OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE IDENTIFIED INA CF PATIENT WITH PANCREATIC SUFFICIENCY, Human mutation, 3(1), 1994, pp. 67-68
Authors:
SUDBRAK R
GOLLA A
HOGAN K
POWERS P
GREGG R
DUCHESNE I
LEHMANNHORN F
DEUFEL T
Citation: R. Sudbrak et al., EXCLUSION OF MALIGNANT HYPERTHERMIA SUSCEPTIBILITY (MHS) FROM A PUTATIVE MHS2 LOCUS ON CHROMOSOME-17Q AND OF THE ALPHA-1-SUBUNIT, BETA-1-SUBUNIT, AND GAMMA-SUBUNIT OF THE DIHYDROPYRIDINE RECEPTOR CALCIUM-CHANNEL AS CANDIDATES FOR THE MOLECULAR DEFECT, Human molecular genetics, 2(7), 1993, pp. 857-862
Authors:
MEITINGER T
GOLLA A
DORNER G
DEUFEL A
AULEHLASCHOLZ C
BOHM I
REINHARDT D
DEUFEL T
Citation: T. Meitinger et al., IN FRAME DELETION (DELTA-F311) WITHIN A SHORT TRINUCLEOTIDE REPEAT OFTHE FIRST TRANSMEMBRANE REGION OF THE CYSTIC-FIBROSIS GENE, Human molecular genetics, 2(12), 1993, pp. 2173-2174
Risultati:
1-14
|