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Results: 1-13 |
Results: 13
HOLOPROSENCEPHALY DUE TO MUTATIONS IN ZIC2, A HOMOLOG OF DROSOPHILA ODD-PAIRED
Authors: BROWN SA WARBURTON D BROWN LY YU CY ROEDER ER STENGELRUTKOWSKI S HENNEKAM RCM MUENKE M
Citation: Sa. Brown et al., HOLOPROSENCEPHALY DUE TO MUTATIONS IN ZIC2, A HOMOLOG OF DROSOPHILA ODD-PAIRED, Nature genetics, 20(2), 1998, pp. 180-183
TETRASOMY 18P CAUSED BY PATERNAL MEIOTIC NONDISJUNCTION
Authors: EGGERMANN T ENGELS H APACIK C MOSKALONEK B MULLERNAVIA J SCHWANITZ G STENGELRUTKOWSKI S
Citation: T. Eggermann et al., TETRASOMY 18P CAUSED BY PATERNAL MEIOTIC NONDISJUNCTION, European journal of human genetics, 5(3), 1997, pp. 175-177
JUVENILE HYALINE FIBROMATOSIS
Authors: SCHALLER M STENGELRUTKOWSKI S SOLLBERG S KIND P
Citation: M. Schaller et al., JUVENILE HYALINE FIBROMATOSIS, Hautarzt, 48(4), 1997, pp. 253-257
A FAMILIAL DELETION IN THE PRADER-WILLI-SYNDROME REGION INCLUDING THEIMPRINTING CONTROL REGION
Authors: SCHUFFENHAUER S BUCHHOLZ T STENGELRUTKOWSKI S BUITING K SCHMIDT H MEITINGER T
Citation: S. Schuffenhauer et al., A FAMILIAL DELETION IN THE PRADER-WILLI-SYNDROME REGION INCLUDING THEIMPRINTING CONTROL REGION, Human mutation, 8(3), 1996, pp. 288-292
TETRASOMY 18P DE-NOVO - IDENTIFICATION BY FISH WITH CONVENTIONAL AND MICRODISSECTION PROBES AND ANALYSIS OF PARENTAL ORIGIN AND FORMATION BY SHORT SEQUENCE REPEAT TYPING
Authors: EGGERMANN T ENGELS H MOSKALONEK B NOTHEN MM MULLERNAVIA J SCHLEIERMACHER E SCHWANITZ G STENGELRUTKOWSKI S
Citation: T. Eggermann et al., TETRASOMY 18P DE-NOVO - IDENTIFICATION BY FISH WITH CONVENTIONAL AND MICRODISSECTION PROBES AND ANALYSIS OF PARENTAL ORIGIN AND FORMATION BY SHORT SEQUENCE REPEAT TYPING, Human genetics, 97(5), 1996, pp. 568-572
2 BROTHERS WITH MULTIPLE CONGENITAL-ANOMALIES AND MENTAL-RETARDATION DUE TO DISOMY (X)(Q12-]Q13.3) INHERITED FROM THE MOTHER
Authors: APACIK C COHEN M JAKOBEIT M SCHMUCKER B SCHUFFENHAUER B UNDTAXIS ET GENZELBOROVICZENY O STENGELRUTKOWSKI S
Citation: C. Apacik et al., 2 BROTHERS WITH MULTIPLE CONGENITAL-ANOMALIES AND MENTAL-RETARDATION DUE TO DISOMY (X)(Q12-]Q13.3) INHERITED FROM THE MOTHER, Clinical genetics, 50(2), 1996, pp. 63-73
FURTHER DELINEATION OF THE BRANCHIOOCULOFACIAL SYNDROME
Authors: LIN AE GORLIN RJ LURIE IW BRUNNER HG VANDERBURGT I NAUMCHIK IV RUMYANTSEVA NV STENGELRUTKOWSKI S ROSENBAUM K MEINECKE P MULLER D
Citation: Ae. Lin et al., FURTHER DELINEATION OF THE BRANCHIOOCULOFACIAL SYNDROME, American journal of medical genetics, 56(1), 1995, pp. 42-59
CHILDHOOD HYPERTRICHOSIS - DIAGNOSIS AND MANAGEMENT
Authors: BAUMEISTER FAM SCHWARZ HP STENGELRUTKOWSKI S
Citation: Fam. Baumeister et al., CHILDHOOD HYPERTRICHOSIS - DIAGNOSIS AND MANAGEMENT, Archives of Disease in Childhood, 72(5), 1995, pp. 457-459
DIFFERENTIATION OF CONGENITAL HYPERTRICHOSIS FROM AMBRAS SYNDROME
Authors: BAUMEISTER FAM STENGELRUTKOWSKI S
Citation: Fam. Baumeister et S. Stengelrutkowski, DIFFERENTIATION OF CONGENITAL HYPERTRICHOSIS FROM AMBRAS SYNDROME, Clinical genetics, 46(6), 1994, pp. 441-441
CONGENITAL DIAPHRAGMATIC-HERNIA IN THE BRACHMANN-DELANGE SYNDROME
Authors: CUNNIFF C CURRY CJR CAREY JC GRAHAM JM WILLIAMS CA STENGELRUTKOWSKI S LUTTGEN S MEINECKE P
Citation: C. Cunniff et al., CONGENITAL DIAPHRAGMATIC-HERNIA IN THE BRACHMANN-DELANGE SYNDROME, American journal of medical genetics, 47(7), 1993, pp. 1018-1021
AMBRAS SYNDROME - DELINEATION OF A UNIQUE HYPERTRICHOSIS UNIVERSALIS-CONGENITA AND ASSOCIATION WITH A BALANCED PERICENTRIC-INVERSION (8) (P11.2, Q22)
Authors: BAUMEISTER FAM EGGER J SCHILDHAUER MT STENGELRUTKOWSKI S
Citation: Fam. Baumeister et al., AMBRAS SYNDROME - DELINEATION OF A UNIQUE HYPERTRICHOSIS UNIVERSALIS-CONGENITA AND ASSOCIATION WITH A BALANCED PERICENTRIC-INVERSION (8) (P11.2, Q22), Clinical genetics, 44(3), 1993, pp. 121-128
BREAKPOINT ANALYSIS, XIST EXPRESSION AND X-INACTIVATION STUDY IN A XQPROXIMAL INTERSTITIAL DUPLICATION INVOLVING THE X-INACTIVATION CENTEROF A FEMALE CARRIER AND HER 2 SONS WITH MALFORMATION SYNDROME
Authors: SCHMUCKER B COHEN M SCHUFFENHAUER S GENZEL O BACH I STENGELRUTKOWSKI S MEINDL A
Citation: B. Schmucker et al., BREAKPOINT ANALYSIS, XIST EXPRESSION AND X-INACTIVATION STUDY IN A XQPROXIMAL INTERSTITIAL DUPLICATION INVOLVING THE X-INACTIVATION CENTEROF A FEMALE CARRIER AND HER 2 SONS WITH MALFORMATION SYNDROME, American journal of human genetics, 53(3), 1993, pp. 600-600
EXPERIENCES WITH RISK ESTIMATES FOR CARRIERS OF CHROMOSOMAL RECIPROCAL TRANSLOCATIONS
Authors: MIDRO AT STENGELRUTKOWSKI S STENE J
Citation: At. Midro et al., EXPERIENCES WITH RISK ESTIMATES FOR CARRIERS OF CHROMOSOMAL RECIPROCAL TRANSLOCATIONS, Clinical genetics, 41(3), 1992, pp. 113-122
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