AAAAAA

   
Results: 1-11 |
Results: 11
MATERNAL DISOMY AND PRADER-WILLI-SYNDROME CONSISTENT WITH GAMETE COMPLEMENTATION IN A CASE OF FAMILIAL TRANSLOCATION (3-15) (P25-Q11.2)
Authors: PARK JP MOESCHLER JB HANI VH HAWK AB BELLONI DR NOLL WW MOHANDAS TK
Citation: Jp. Park et al., MATERNAL DISOMY AND PRADER-WILLI-SYNDROME CONSISTENT WITH GAMETE COMPLEMENTATION IN A CASE OF FAMILIAL TRANSLOCATION (3-15) (P25-Q11.2), American journal of medical genetics, 78(2), 1998, pp. 134-139
SMITH-MAGENIS-SYNDROME RESULTING FROM A DE-NOVO DIRECT INSERTION OF PROXIMAL 17Q INTO 17P11.2
Authors: PARK JP MOESCHLER JB DAVIES WS PATEL PI MOHANDAS TK
Citation: Jp. Park et al., SMITH-MAGENIS-SYNDROME RESULTING FROM A DE-NOVO DIRECT INSERTION OF PROXIMAL 17Q INTO 17P11.2, American journal of medical genetics, 77(1), 1998, pp. 23-27
ISOCHROMOSOME 18Q REVISITED
Authors: PARK JP MOESCHLER JB
Citation: Jp. Park et Jb. Moeschler, ISOCHROMOSOME 18Q REVISITED, Prenatal diagnosis, 17(6), 1997, pp. 589-590
KLINEFELTER-SYNDROME AND TRISOMY-X-SYNDROME IN PATIENTS WITH PRADER-WILLI-SYNDROME AND UNIPARENTAL MATERNAL DISOMY OF CHROMOSOME-15 - A COINCIDENCE
Authors: BUTLER MG HEDGES LK ROGAN PK SEIP JR CASSIDY SB MOESCHLER JB
Citation: Mg. Butler et al., KLINEFELTER-SYNDROME AND TRISOMY-X-SYNDROME IN PATIENTS WITH PRADER-WILLI-SYNDROME AND UNIPARENTAL MATERNAL DISOMY OF CHROMOSOME-15 - A COINCIDENCE, American journal of medical genetics, 72(1), 1997, pp. 111-114
LONGITUDINAL OBSERVATIONS ON 15 CHILDREN WITH WIEDEMANN-BECKWITH SYNDROME
Authors: WENG EY MOESCHLER JB GRAHAM JM
Citation: Ey. Weng et al., LONGITUDINAL OBSERVATIONS ON 15 CHILDREN WITH WIEDEMANN-BECKWITH SYNDROME, American journal of medical genetics, 56(4), 1995, pp. 366-373
MOTHER AND DAUGHTER DEMONSTRATING FEATURES OF BOTH ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT-PALATE (MIM-NUMBER-106250) AND HAY-WELLS SYNDROME (MIM-NUMBER-106260)
Authors: MOESCHLER JB FILIANO JJ HANI V RAWNSLEY E
Citation: Jb. Moeschler et al., MOTHER AND DAUGHTER DEMONSTRATING FEATURES OF BOTH ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT-PALATE (MIM-NUMBER-106250) AND HAY-WELLS SYNDROME (MIM-NUMBER-106260), American journal of human genetics, 57(4), 1995, pp. 95-95
12-YEAR-OLD FEMALE WITH BOTH PRADER-WILLI AND TRISOMY-X SYNDROMES
Authors: BUTLER MG HEDGES LK MOESCHLER JB
Citation: Mg. Butler et al., 12-YEAR-OLD FEMALE WITH BOTH PRADER-WILLI AND TRISOMY-X SYNDROMES, American journal of human genetics, 57(4), 1995, pp. 609-609
PARACENTRIC INVERSION OF CHROMOSOME-18 WITH DUPLICATION OF THE INVERTED MATERIAL IN A CHILD DUE TO A MATERNAL PARACENTRIC INVERSION OF 18Q
Authors: HANI VH PARK J ALLEN EF MOESCHLER JB
Citation: Vh. Hani et al., PARACENTRIC INVERSION OF CHROMOSOME-18 WITH DUPLICATION OF THE INVERTED MATERIAL IN A CHILD DUE TO A MATERNAL PARACENTRIC INVERSION OF 18Q, American journal of human genetics, 57(4), 1995, pp. 642-642
MILD BRACHMANN-DELANGE SYNDROME - PHENOTYPIC AND DEVELOPMENTAL CHARACTERISTICS OF MILDLY AFFECTED INDIVIDUALS
Authors: MOESCHLER JB GRAHAM JM
Citation: Jb. Moeschler et Jm. Graham, MILD BRACHMANN-DELANGE SYNDROME - PHENOTYPIC AND DEVELOPMENTAL CHARACTERISTICS OF MILDLY AFFECTED INDIVIDUALS, American journal of medical genetics, 47(7), 1993, pp. 969-976
RADIOLOGICAL FEATURES IN BRACHMANN-DELANGE SYNDROME
Authors: BRADDOCK SR LACHMAN RS STOPPENHAGEN CC CAREY JC IRELAND M MOESCHLER JB CUNNIFF C GRAHAM JM
Citation: Sr. Braddock et al., RADIOLOGICAL FEATURES IN BRACHMANN-DELANGE SYNDROME, American journal of medical genetics, 47(7), 1993, pp. 1006-1013
A CASE OF DE-NOVO TRANSLOCATION 7-10 AND THE DUPLICATION 7P, DELETION10P PHENOTYPE
Authors: PARK JP MCDERMET MK MOESCHLER JB WURSTERHILL DH
Citation: Jp. Park et al., A CASE OF DE-NOVO TRANSLOCATION 7-10 AND THE DUPLICATION 7P, DELETION10P PHENOTYPE, Annales de genetique, 36(4), 1993, pp. 217-220
Risultati: 1-11 |