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Results:
1-12
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Results: 12
Authors:
XIANG FQ
ZHANG ZP
CLARKE A
JOSELUIZ P
SAKKUBAI N
SAROJINI B
DELOZIERBLANCHET CD
HANSMANN I
EDSTROM L
ANVRET M
Citation: Fq. Xiang et al., CHROMOSOME MAPPING OF RETT-SYNDROME - A LIKELY CANDIDATE REGION ON THE TELOMERE OF XQ, Journal of Medical Genetics, 35(4), 1998, pp. 297-300
Authors:
ELIEZ S
MORRIS MA
DAHOUNHADORN S
DELOZIERBLANCHET CD
GOS A
SIZONENKO P
ANTONARAKIS SE
Citation: S. Eliez et al., FAMILIAL TRANSLOCATION T(Y-15)(Q12-P11) AND DE-NOVO DELETION OF THE PRADER-WILLI-SYNDROME (PWS) CRITICAL REGION ON 15Q11-Q13, American journal of medical genetics, 70(3), 1997, pp. 222-228
Authors:
HASTRUP W
DELOZIERBLANCHET CD
SCHARNHORST D
SUPERTIFURGA A
CURRY CJ
Citation: W. Hastrup et al., ATELOSTEOGENESIS TYPE-I - LACK OF EVIDENCE FOR A SULFATE TRANSPORT DISORDER, American journal of human genetics, 61(4), 1997, pp. 560-560
Authors:
DELOZIERBLANCHET CD
HAHNEMANN JM
VEJERSLEV LO
Citation: Cd. Delozierblanchet et al., THE RISK OF FETAL CHROMOSOMAL ABNORMALITY IN PREGNANCIES WITH CVS MOSAICISM - DATA FROM THE EUROPEAN-COLLABORATIVE-RESEARCH-ON-MOSAICISM INCVS, 1986-1995 (EUCROMIC BMH1-CT93-1673), American journal of human genetics, 61(4), 1997, pp. 862-862
Authors:
SIDRANSKY E
TAYEBI N
STUBBLEFIELD BK
ELIASON W
KLINEBURGESS A
PIZZOLATO GP
COX JN
PORTA J
BOTTANI A
DELOZIERBLANCHET CD
Citation: E. Sidransky et al., THE CLINICAL, MOLECULAR, AND PATHOLOGICAL CHARACTERIZATION OF A FAMILY WITH 2 CASES OF LETHAL PERINATAL TYPE-2 GAUCHER DISEASE, Journal of Medical Genetics, 33(2), 1996, pp. 132-136
Authors:
DELOZIERBLANCHET CD
FRANCIPANE L
MORRIS MA
HOOVERS JMN
LESCHOT NJ
COX JN
Citation: Cd. Delozierblanchet et al., TRISOMY-3 MOSAICISM ON CVS - CASE-REPORT WITH LITERATURE-REVIEW AND PROPOSITIONS FOR INVESTIGATION AND COUNSELING, Clinical genetics, 48(6), 1995, pp. 308-312
Authors:
DELOZIERBLANCHET CD
PELLEGRINI B
HAHNEMANN JM
VEJERSLEV LO
Citation: Cd. Delozierblanchet et al., UNIPARENTAL DISOMY AND FETOPLACENTAL DISCREPANCIES ON CHORIONIC VILLUS SAMPLING, American journal of human genetics, 57(4), 1995, pp. 263-263
Authors:
EXTERMANN P
COX J
PLASCHY B
BOUCHARDY I
EBENER J
DANIEL C
BUHLMANN E
DELOZIERBLANCHET CD
Citation: P. Extermann et al., IS CONFINED PLACENTAL MOSAICISM A FREQUENT CAUSE OF LOW-BIRTH-WEIGHT - A MULTIDISCIPLINARY STUDY, American journal of human genetics, 57(4), 1995, pp. 1620-1620
Authors:
HUTTER P
ANTONARAKIS SE
DELOZIERBLANCHET CD
MORRIS MA
Citation: P. Hutter et al., EXON SKIPPING ASSOCIATED WITH A-]G TRANSITION AT -1 (NF1) GENE(4 OF THE IVS33 SPLICE DONOR SITE OF THE NEUROFIBROMATOSIS TYPE), Human molecular genetics, 3(4), 1994, pp. 663-665
Authors:
BOTTANI A
ROBINSON WP
DELOZIERBLANCHET CD
ENGEL E
MORRIS MA
SCHMITT B
THUNHOHENSTEIN L
SCHINZEL A
Citation: A. Bottani et al., ANGELMAN SYNDROME DUE TO PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME-15- A MILDER PHENOTYPE, American journal of medical genetics, 51(1), 1994, pp. 35-40
Authors:
HUTTER P
ANTONARAKIS SE
DELOZIERBLANCHET CD
MORRIS MA
Citation: P. Hutter et al., A NOVEL CAUSE OF EXON SKIPPING - A-]G TRANSITION IN THE IVS33 SPLICE DONOR SITE OF THE NEUROFIBROMATOSIS TYPE-1 (NF1) GENE(4A), American journal of human genetics, 53(3), 1993, pp. 1174-1174
Authors:
DELOZIERBLANCHET CD
FRACIPANE L
MORRIS M
DAHOUN S
COX J
EXTERMANN P
Citation: Cd. Delozierblanchet et al., FETOPLACENTAL DISCREPANCIES IN REPRODUCTIVE PATHOLOGIES, American journal of human genetics, 53(3), 1993, pp. 1396-1396
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