Authors:
DENDUNNEN JT
KRAAYENBRINK T
VANSCHOONEVELD M
VANDEVOSSE E
DEJONG PTVM
TENBRINK JB
SCHUURMAN E
TIJMES N
VANOMMEN GJB
BERGEN AAB
ANDOLFI G
MONTINI E
LI Y
OUDET C
BOLZ H
KAPLAN J
ORTH U
GAL A
HANAUER A
BARDELLI AM
AYUSO C
DIAZ FJ
BITOUN P
VENTRUTO V
BALLABIO A
FRANCO B
HIRIYANNA KT
BINGHAM EL
MCHENRY C
PAWAR H
COATS C
DARGA T
RICHARDS JE
SIEVING PA
HUOPANIEMI L
RANTALA A
ROSENBERG T
DAHL N
WRIGHT A
DELACHAPELLE A
ALITALO T
LENZNER S
BRUNNER B
FEIL S
NIESLER B
SCHULZ U
PINCKERS A
BLANKENNAGEL A
RUETHER K
KELLNER U
RAPPOLD G
ROPERS HH
KALSCHEUER V
BERGER W
TRUMP D
WALPOLE SM
NICOLAOU A
GAYTHOR SA
PIMENIDES D
GEORGE NDL
MOORE UT
YATES JRW
Citation: Jt. Dendunnen et al., FUNCTIONAL IMPLICATIONS OF THE SPECTRUM OF MUTATIONS FOUND IN 234 CASES WITH X-LINKED JUVENILE RETINOSCHISIS (XLRS), Human molecular genetics (Print), 7(7), 1998, pp. 1185-1192
Authors:
KEYVANI K
PAULUS W
TRAUPE H
KIESEWETTER F
CURSIEFEN C
HUK W
RAAB K
ORTH U
RAUCH A
PFEIFFER RA
Citation: K. Keyvani et al., ICHTHYOSIS FOLLICULARIS, ALOPECIA, AND PHOTOPHOBIA (IFAP) SYNDROME - CLINICAL AND NEUROPATHOLOGICAL OBSERVATIONS IN A 33-YEAR-OLD MAN, American journal of medical genetics, 78(4), 1998, pp. 371-377
Citation: U. Orth et A. Haas, USE OF THE INTERNET AS AN INFORMATION AND COMMUNICATION TOOL IN FLOWER TRADE, Berichte uber Landwirtschaft, 76(3), 1998, pp. 468-488
Citation: Sm. Gu et al., MOLECULAR ANALYSIS OF THE L1CAM GENE IN PATIENTS WITH X-LINKED HYDROCEPHALUS DEMONSTRATES 8 NOVEL MUTATIONS AND SUGGESTS NON-ALLELIC HETEROGENEITY OF THE TRAIT, American journal of medical genetics, 71(3), 1997, pp. 336-340
Citation: Em. Wicklein et al., MISSENSE MUTATION (R15W) OF THE CONNEXIN32 GENE IN A FAMILY WITH X-CHROMOSOMAL CHARCOT-MARIE-TOOTH NEUROPATHY WITH ONLY FEMALE FAMILY MEMBERS AFFECTED, Journal of Neurology, Neurosurgery and Psychiatry, 63(3), 1997, pp. 379-381
Citation: D. David et al., A NOVEL SPLICE-SITE MUTATION IN THE CD40L GENE IN A PATIENT WITH X-LINKED HYPER-IGM SYNDROME, Human mutation, 7(2), 1996, pp. 181-182
Authors:
WITTWER B
KIRCHEISEN R
LEUTELT J
ORTH U
GAL A
Citation: B. Wittwer et al., NEW X-LINKED MENTAL-RETARDATION SYNDROME WITH THE GENE MAPPED TENTATIVELY IN XP22.3, American journal of medical genetics, 64(1), 1996, pp. 42-49
Authors:
SCHWINGER E
KIRSCHSTEIN M
GREIWE M
KONERMANN T
ORTH U
GAL A
Citation: E. Schwinger et al., SHORT STATURE IN A MOTHER AND DAUGHTER WITH TERMINAL DELETION OF XP22.3, American journal of medical genetics, 63(1), 1996, pp. 239-242
Authors:
GU SM
ORTH U
VESKE A
ENDERS H
KLUNDER K
SCHLOSSER M
ENGEL W
SCHWINGER E
GAL A
Citation: Sm. Gu et al., 5 NOVEL MUTATIONS IN THE L1CAM GENE IN FAMILIES WITH X-LINKED HYDROCEPHALUS, Journal of Medical Genetics, 33(2), 1996, pp. 103-106
Authors:
SCHAEFERPROKOP CM
ORTH U
PROKOP M
NIDERMEYER J
SCHAEFERS J
SHIN HO
Citation: Cm. Schaeferprokop et al., SPIRAL CT OF THE TRACHEOBRONCHIAL SYSTEM VERSUS BRONCHOSCOPY - CORRELATION OF FINDINGS IN 40 PATIENTS, Radiology, 197, 1995, pp. 201-201
Authors:
GAL A
ORTH U
BAEHR W
SCHWINGER E
ROSENBERG T
Citation: A. Gal et al., HETEROZYGOUS MISSENSE MUTATION IN THE ROD CGMP PHOSPHODIESTERASE BETA-SUBUNIT GENE IN AUTOSOMAL-DOMINANT STATIONARY NIGHT BLINDNESS (VOL 7,PG 64, 1994), Nature genetics, 7(4), 1994, pp. 551-551
Authors:
GAL A
ORTH U
BAEHR W
SCHWINGER E
ROSENBERG T
Citation: A. Gal et al., HETEROZYGOUS MISSENSE MUTATION IN THE ROD CGMP PHOSPHODIESTERASE BETA-SUBUNIT GENE IN AUTOSOMAL-DOMINANT STATIONARY NIGHT BLINDNESS, Nature genetics, 7(1), 1994, pp. 64-68
Authors:
ORTH U
FAIRWEATHER N
EXLER MC
SCHWINGER E
GAL A
Citation: U. Orth et al., X-LINKED DOMINANT CHARCOT-MARIE-TOOTH NEUROPATHY - VALINE-38-METHIONINE SUBSTITUTION OF CONNEXIN-32, Human molecular genetics, 3(9), 1994, pp. 1699-1700
Authors:
MULLER B
ORTH U
VANNOUHUYS CE
DUVIGNEAU C
FUHRMANN C
SCHWINGER E
LAQUA H
GAL A
Citation: B. Muller et al., MAPPING OF THE AUTOSOMAL-DOMINANT EXUDATIVE VITREORETINOPATHY LOCUS (EVR1) BY MULTIPOINT LINKAGE ANALYSIS IN 4 FAMILIES, Genomics, 20(2), 1994, pp. 317-319
Citation: U. Orth et al., LINKAGE ANALYSIS IN FAMILIES WITH LOWE SYNDROME MAPS OCRL DISTAL TO DXS42, Cytogenetics and cell genetics, 67(4), 1994, pp. 346-346
Authors:
XU S
ORTH U
GURRIERI F
CREMER M
BEHMEL A
GENUARDI M
NERI G
GAL A
Citation: S. Xu et al., SIMPSON-GOLABI-BEHMEL GENE IS CLOSELY LINKED TO HPRT IN XQ26 IN 2 EUROPEAN FAMILIES, Cytogenetics and cell genetics, 67(4), 1994, pp. 346-346
Authors:
ORTH U
GURRIERI F
BEHMEL A
GENUARDI M
CREMER M
GAL A
NERI G
Citation: U. Orth et al., GENE FOR SIMPSON-GOLABI-BEHMEL SYNDROME IS LINKED TO HPRT IN XQ26 IN 2 EUROPEAN FAMILIES, American journal of medical genetics, 50(4), 1994, pp. 388-390