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Results: 1-21 |
Results: 21
ANTENATAL DIAGNOSIS OF LETHAL SKELETAL DYSPLASIAS
Authors: TRETTER AE SAUNDERS RC MEYERS CM DUNGAN JS GRUMBACH K SUN CCJ CAMPBELL AB WULFSBERG EA
Citation: Ae. Tretter et al., ANTENATAL DIAGNOSIS OF LETHAL SKELETAL DYSPLASIAS, American journal of medical genetics, 75(5), 1998, pp. 518-522
MOLECULAR CHARACTERIZATION OF A UNIQUE PATIENT WITH EPIMERASE-DEFICIENCY GALACTOSEMIA
Authors: ALANO A ALMASHANU S CHINSKY JM COSTEAS P BLITZER MG WULFSBERG EA COWAN TM
Citation: A. Alano et al., MOLECULAR CHARACTERIZATION OF A UNIQUE PATIENT WITH EPIMERASE-DEFICIENCY GALACTOSEMIA, Journal of inherited metabolic disease, 21(4), 1998, pp. 341-350
TESTING FOR INTERACTION BETWEEN MATERNAL SMOKING AND TGFA GENOTYPE AMONG ORAL CLEFT CASES BORN IN MARYLAND 1992-1996
Authors: BEATY TH MAESTRI NE HETMANSKI JB WYSZYNSKI DF VANDERKOLK CA SIMPSON JC MCINTOSH I SMITH EA ZEIGER JS RAYMOND GV PANNY SR TIFFT CJ LEWANDA AF CRISTION CA WULFSBERG EA
Citation: Th. Beaty et al., TESTING FOR INTERACTION BETWEEN MATERNAL SMOKING AND TGFA GENOTYPE AMONG ORAL CLEFT CASES BORN IN MARYLAND 1992-1996, The Cleft palate-craniofacial journal, 34(5), 1997, pp. 447-454
WHATS IN A NAME - THE 22Q11.2 DELETION - REPLY
Authors: WULFSBERG EA LEANACOX J NERI G
Citation: Ea. Wulfsberg et al., WHATS IN A NAME - THE 22Q11.2 DELETION - REPLY, American journal of medical genetics, 72(2), 1997, pp. 248-249
THE OEIS COMPLEX (OMPHALOCELE-EXSTROPHY-IMPERFORATE ANUS-SPINAL DEFECTS) IN MONOZYGOTIC TWINS
Authors: LEE DH SANDERS RC MEYERS CM WULFSBERG EA SUN CCJ
Citation: Dh. Lee et al., THE OEIS COMPLEX (OMPHALOCELE-EXSTROPHY-IMPERFORATE ANUS-SPINAL DEFECTS) IN MONOZYGOTIC TWINS, Laboratory investigation, 76(1), 1997, pp. 12-12
ANTENATAL DIAGNOSIS AND OUTCOME OF LETHAL SKELETAL DYSPLASIAS
Authors: TRETTER AE SAUNDERS RC MEYERS CM DUNGAN JS GRUMBACH K SUN CJ CAMPBELL AB WULFSBERG EA
Citation: Ae. Tretter et al., ANTENATAL DIAGNOSIS AND OUTCOME OF LETHAL SKELETAL DYSPLASIAS, American journal of human genetics, 61(4), 1997, pp. 650-650
PRENATAL-DIAGNOSIS OF FAMILIAL HOLOPROSENCEPHALY
Authors: DUNGAN JS WULFSBERG EA FRAYER K WEINER CP
Citation: Js. Dungan et al., PRENATAL-DIAGNOSIS OF FAMILIAL HOLOPROSENCEPHALY, American journal of human genetics, 61(4), 1997, pp. 868-868
FAMILIAL DIGEORGE VELOCARDIOFACIAL SYNDROME WITH DELETIONS OF CHROMOSOME AREA 22Q11.2 - REPORT OF 5 FAMILIES WITH A REVIEW OF THE LITERATURE/
Authors: LEANACOX J PANGKANON S EANET KR CURTIN MS WULFSBERG EA
Citation: J. Leanacox et al., FAMILIAL DIGEORGE VELOCARDIOFACIAL SYNDROME WITH DELETIONS OF CHROMOSOME AREA 22Q11.2 - REPORT OF 5 FAMILIES WITH A REVIEW OF THE LITERATURE/, American journal of medical genetics, 65(4), 1996, pp. 309-316
WHATS IN A NAME - CHROMOSOME 22Q ABNORMALITIES AND THE DIGEORGE, VELOCARDIOFACIAL, AND CONOTRUNCAL ANOMALIES FACE SYNDROMES
Authors: WULFSBERG EA LEANACOX J NERI G
Citation: Ea. Wulfsberg et al., WHATS IN A NAME - CHROMOSOME 22Q ABNORMALITIES AND THE DIGEORGE, VELOCARDIOFACIAL, AND CONOTRUNCAL ANOMALIES FACE SYNDROMES, American journal of medical genetics, 65(4), 1996, pp. 317-319
IS THE AUTOSOMAL-DOMINANT OPITZ GBBB SYNDROME PART OF THE DIGEORGE VELOCARDIOFACIAL SYNDROME WITH DELETIONS OF CHROMOSOME AREA 22Q11.2/
Authors: WULFSBERG EA
Citation: Ea. Wulfsberg, IS THE AUTOSOMAL-DOMINANT OPITZ GBBB SYNDROME PART OF THE DIGEORGE VELOCARDIOFACIAL SYNDROME WITH DELETIONS OF CHROMOSOME AREA 22Q11.2/, American journal of medical genetics, 64(3), 1996, pp. 523-524
CONFIRMATION OF THE CATANIA BRACHYDACTYLOUS TYPE OF ACROFACIAL DYSOSTOSIS - REPORT OF A 2ND FAMILY
Authors: WULFSBERG EA CAMPBELL AB LURIE IW EANET KR
Citation: Ea. Wulfsberg et al., CONFIRMATION OF THE CATANIA BRACHYDACTYLOUS TYPE OF ACROFACIAL DYSOSTOSIS - REPORT OF A 2ND FAMILY, American journal of medical genetics, 63(4), 1996, pp. 554-557
TESTING CHILDREN FOR GENETIC PREDISPOSITIONS - IS IT IN THEIR BEST INTEREST
Authors: HOFFMANN DE WULFSBERG EA
Citation: De. Hoffmann et Ea. Wulfsberg, TESTING CHILDREN FOR GENETIC PREDISPOSITIONS - IS IT IN THEIR BEST INTEREST, The Journal of law, medicine & ethics, 23(4), 1995, pp. 331-344
PHENOTYPIC VARIABILITY ASSOCIATED WITH DEL(22)(Q11.2) - A REPORT OF 5FAMILIAL CASES
Authors: LEANACOX J PANGKANON S SUPOVITZ KR CURTIN MS WULFSBERG EA
Citation: J. Leanacox et al., PHENOTYPIC VARIABILITY ASSOCIATED WITH DEL(22)(Q11.2) - A REPORT OF 5FAMILIAL CASES, American journal of human genetics, 57(4), 1995, pp. 523-523
3 YEAR FOLLOW-UP OF A PATIENT WITH TORIELLO-CAREY-SYNDROME
Authors: SUPOVITZ KR WULFSBERG EA
Citation: Kr. Supovitz et Ea. Wulfsberg, 3 YEAR FOLLOW-UP OF A PATIENT WITH TORIELLO-CAREY-SYNDROME, American journal of human genetics, 57(4), 1995, pp. 574-574
GORLIN SYNDROME (NEVOID BASAL-CELL CARCINOMA SYNDROME) - PRENATAL DETECTION IN A FETUS WITH MACROCEPHALY AND VENTRICULOMEGALY
Authors: HOGGE WA BLANK C ROOCHVARG LB HOGGE JS WULFSBERG EA RAFFEL LJ
Citation: Wa. Hogge et al., GORLIN SYNDROME (NEVOID BASAL-CELL CARCINOMA SYNDROME) - PRENATAL DETECTION IN A FETUS WITH MACROCEPHALY AND VENTRICULOMEGALY, Prenatal diagnosis, 14(8), 1994, pp. 725-727
ALPHA-1-ANTITRYPSIN DEFICIENCY - IMPACT OF GENETIC DISCOVERY ON MEDICINE AND SOCIETY
Authors: WULFSBERG EA HOFFMANN DE COHEN MM
Citation: Ea. Wulfsberg et al., ALPHA-1-ANTITRYPSIN DEFICIENCY - IMPACT OF GENETIC DISCOVERY ON MEDICINE AND SOCIETY, JAMA, the journal of the American Medical Association, 271(3), 1994, pp. 217-222
COMPLEX CHROMOSOMAL REARRANGEMENTS - SOME BREAKPOINTS MAY HAVE CELLULAR ADAPTIVE SIGNIFICANCE
Authors: LURIE IW WULFSBERG EA PRABHAKAR G ROSENBLUMVOS LS SUPOVITZ KR COHEN MM
Citation: Iw. Lurie et al., COMPLEX CHROMOSOMAL REARRANGEMENTS - SOME BREAKPOINTS MAY HAVE CELLULAR ADAPTIVE SIGNIFICANCE, Clinical genetics, 46(3), 1994, pp. 244-247
ON THE NOSOLOGY OF THE SCHINZEL-PHOCOMELIA AND AL-AWADI RAAS-ROTHSCHIELD SYNDROMES/
Authors: LURIE IW WULFSBERG EA
Citation: Iw. Lurie et Ea. Wulfsberg, ON THE NOSOLOGY OF THE SCHINZEL-PHOCOMELIA AND AL-AWADI RAAS-ROTHSCHIELD SYNDROMES/, American journal of medical genetics, 47(8), 1993, pp. 1234-1234
HOLOPROSENCEPHALY-POLYDACTYLY (PSEUDOTRISOMY-13) SYNDROME - EXPANSIONOF THE PHENOTYPIC SPECTRUM
Authors: LURIE IW WULFSBERG EA
Citation: Iw. Lurie et Ea. Wulfsberg, HOLOPROSENCEPHALY-POLYDACTYLY (PSEUDOTRISOMY-13) SYNDROME - EXPANSIONOF THE PHENOTYPIC SPECTRUM, American journal of medical genetics, 47(3), 1993, pp. 405-409
AUTOSOMAL-DOMINANT TETRAMELIC POSTAXIAL OLIGODACTYLY
Authors: WULFSBERG EA MIRKINSON LJ MEISTER SJ
Citation: Ea. Wulfsberg et al., AUTOSOMAL-DOMINANT TETRAMELIC POSTAXIAL OLIGODACTYLY, American journal of medical genetics, 46(5), 1993, pp. 579-583
FAMILY SUPPORT GROUP INVOLVEMENT IN A RESEARCH STUDY
Authors: SUPOVITZ KR WULFSBERG EA
Citation: Kr. Supovitz et Ea. Wulfsberg, FAMILY SUPPORT GROUP INVOLVEMENT IN A RESEARCH STUDY, American journal of human genetics, 53(3), 1993, pp. 1638-1638
Risultati: 1-21 |