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Results:
1-14
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Results: 14
Authors:
KLOSE A
ROBINSON PN
GEWIES A
KLUWE L
KAUFMANN D
BUSKE A
TINSCHERT S
PETERS H
Citation: A. Klose et al., 2 NOVEL MUTATIONS IN EXON-19A AND EXON-20 AND A BSAL POLYMORPHISM IN A NEWLY CHARACTERIZED INTRON OF THE NEUROFIBROMATOSIS TYPE-1 GENE, Human genetics, 102(3), 1998, pp. 367-371
Authors:
URBAN M
OPITZ C
BOMMER C
ENDERS H
TINSCHERT S
WITKOWSKI R
Citation: M. Urban et al., BILATERALLY CLEFT-LIP, LIMB DEFECTS, AND HEMATOLOGICAL MANIFESTATIONS- ROBERTS-SYNDROME VERSUS TAR SYNDROME, American journal of medical genetics, 79(3), 1998, pp. 155-160
Authors:
TINSCHERT S
BRAUN HS
Citation: S. Tinschert et Hs. Braun, CRANIOMETAPHYSEAL DYSPLASIA IN 6 GENERATIONS OF A GERMAN KINDRED, American journal of medical genetics, 77(3), 1998, pp. 175-181
Authors:
BODDRICH A
ROBINSON PN
SCHULKE M
BUSKE A
TINSCHERT S
NURNBERG P
Citation: A. Boddrich et al., NEW EVIDENCE FOR A MUTATION HOTSPOT IN EXON-37 OF THE NF1 GENE, Human mutation, 9(4), 1997, pp. 374-377
Authors:
URBAN M
ROGALLA P
TINSCHERT S
KRIETSCH P
Citation: M. Urban et al., TETRAPHOCOMELIA AND BILATERAL CLEFT-LIP IN A HISTORICAL CASE OF ROBERTS-SYNDROME [VIRCHOW, 1898], American journal of medical genetics, 72(3), 1997, pp. 307-314
Authors:
HAPPLE R
STEIJLEN PM
THEILE U
KARITZKY D
TINSCHERT S
ALBRECHTNEBE H
KUSTER W
Citation: R. Happle et al., PATCHY DERMAL HYPOPLASIA AS A CHARACTERISTIC FEATURE OF PROTEUS SYNDROME, Archives of dermatology, 133(1), 1997, pp. 77-80
Authors:
NUMBERG P
TINSCHERT S
MRUG M
HAMPE J
BRAUN HS
FUHRMANN E
MULLER CR
REIS A
Citation: P. Numberg et al., MAPPING OF THE GENE FOR CRANIOMETAPHYSEAL DYSPLASIA (CMD) IN A LARGE GERMAN KINDRED, American journal of human genetics, 61(4), 1997, pp. 1680-1680
Authors:
NURNBERG P
TINSCHERT S
MRUG M
HAMPE J
MULLER CR
FUHRMANN E
BRAUN HS
REIS A
Citation: P. Nurnberg et al., THE GENE FOR AUTOSOMAL-DOMINANT CRANIOMETAPHYSEAL DYSPLASIA MAPS TO CHROMOSOME 5P AND IS DISTINCT FROM THE GROWTH HORMONE-RECEPTOR GENE, American journal of human genetics, 61(4), 1997, pp. 918-923
Authors:
ROBINSON PN
BUSKE A
NEUMANN R
TINSCHERT S
NURNBERG P
Citation: Pn. Robinson et al., RECURRENT 2-BP DELETION IN EXON 10C OF THE NF1 GENE IN 2 CASES OF VONRECKLINGHAUSEN NEUROFIBROMATOSIS, Human mutation, 7(1), 1996, pp. 85-88
Authors:
TINSCHERT S
ANTONLAMPRECHT I
ALBRECHTNEBE H
AUDRING H
Citation: S. Tinschert et al., ZUNICH NEUROECTODERMAL SYNDROME - MIGRATORY ICHTHYOSIFORM DERMATOSIS,COLOBOMAS, AND OTHER ABNORMALITIES, Pediatric dermatology, 13(5), 1996, pp. 363-371
Authors:
HORN D
ROBINSON PN
BODDRICH A
BUSKE A
TINSCHERT S
NURNBERG P
Citation: D. Horn et al., 3 NOVEL MUTATIONS OF THE NF1 GENE DETECTED BY TEMPERATURE-GRADIENT GEL-ELECTROPHORESIS OF EXON-5 AND EXON-8, Electrophoresis, 17(10), 1996, pp. 1559-1563
Authors:
ROBINSON PN
BODDRICH A
PETERS H
TINSCHERT S
BUSKE A
KAUFMANN D
NURNBERG P
Citation: Pn. Robinson et al., 2 RECURRENT NONSENSE MUTATIONS AND A 4-BP DELETION IN A QUASI-SYMMETRICAL ELEMENT IN EXON-37 OF THE NF1 GENE, Human genetics, 96(1), 1995, pp. 95-98
Authors:
SCHRANDERSTUMPEL C
HOWELER C
JONES M
SOMMER A
STEVENS C
TINSCHERT S
ISRAEL J
FRYNS JP
Citation: C. Schranderstumpel et al., SPECTRUM OF X-LINKED HYDROCEPHALUS (HSAS), MASA SYNDROME, AND COMPLICATED SPASTIC PARAPLEGIA (SPG1) - CLINICAL REVIEW WITH 6 ADDITIONAL FAMILIES, American journal of medical genetics, 57(1), 1995, pp. 107-116
Authors:
SCHRANDERSTUMPEL C
MEINECKE P
WILSON G
GILLESSENKAESBACH G
TINSCHERT S
KONIG R
PHILIP N
RIZZO R
SCHRANDER J
PFEIFFER L
MAATKIEVIT A
VANDERBURGT I
VANESSEN T
LATTA E
HILLIG U
VERLOES A
JOURNEL H
FRYNS JP
Citation: C. Schranderstumpel et al., THE KABUKI (NIIKAWA-KUROKI) SYNDROME - FURTHER DELINEATION OF THE PHENOTYPE IN 29 NON-JAPANESE PATIENTS, European journal of pediatrics, 153(6), 1994, pp. 438-445
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