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Results: 1-21 |
Results: 21
SUBCLAVIAN ARTERY PSEUDOANEURYSM IN TYPE-IV EHLERS-DANLOS SYNDROME
Authors: ROSSI PI SCHER LA FRIEDMAN SG HALL MH BOXER RA BIALER MG
Citation: Pi. Rossi et al., SUBCLAVIAN ARTERY PSEUDOANEURYSM IN TYPE-IV EHLERS-DANLOS SYNDROME, Journal of vascular surgery, 27(3), 1998, pp. 549-551
OCULO-AURICULO-VERTEBRAL SYNDROME AND CAT EYE SYNDROME - AN OVERLAP CASE
Authors: BIALER MG ZHOU XT MCLAUGHLIN JA TRINCHITELLA L YENAMANDRA AK
Citation: Mg. Bialer et al., OCULO-AURICULO-VERTEBRAL SYNDROME AND CAT EYE SYNDROME - AN OVERLAP CASE, American journal of human genetics, 61(4), 1997, pp. 509-509
HOLOPROSENCEPHALY, A PREVIOUSLY UNREPORTED FINDING, IN A PRENATALLY DIAGNOSED CASE OF DISTAL 6Q DELETION
Authors: MCKENNA C RAWLINSON K BERRY PK BIALER MG
Citation: C. Mckenna et al., HOLOPROSENCEPHALY, A PREVIOUSLY UNREPORTED FINDING, IN A PRENATALLY DIAGNOSED CASE OF DISTAL 6Q DELETION, American journal of human genetics, 61(4), 1997, pp. 2164-2164
PARTIAL TRISOMY 16P DUE TO TANDEM DUPLICATION OF 16P13
Authors: PERRONE R YENAMANDRA A ZHOU XT BIALER MG
Citation: R. Perrone et al., PARTIAL TRISOMY 16P DUE TO TANDEM DUPLICATION OF 16P13, American journal of human genetics, 61(4), 1997, pp. 2170-2170
SONOGRAPHIC AND DNA-BASED PRENATAL DETECTION OF GORLIN SYNDROME
Authors: PETRIKOVSKY BM BIALER MG MCLAUGHLIN JA BALE AE
Citation: Bm. Petrikovsky et al., SONOGRAPHIC AND DNA-BASED PRENATAL DETECTION OF GORLIN SYNDROME, Journal of ultrasound in medicine, 15(6), 1996, pp. 493-495
PRENATAL-DIAGNOSIS OF MITOCHONDRIAL FATTY-ACID OXIDATION DEFECTS
Authors: NADA MA VIANEYSABAN C ROE CR DING JH MATHIEU M WAPPNER RS BIALER MG MCGLYNN JA MANDON G
Citation: Ma. Nada et al., PRENATAL-DIAGNOSIS OF MITOCHONDRIAL FATTY-ACID OXIDATION DEFECTS, Prenatal diagnosis, 16(2), 1996, pp. 117-124
TISSUE DIFFERENCES IN FRAGILE-X MOSAICS - MOSAICISM IN BLOOD-CELLS MAY DIFFER GREATLY FROM SKIN
Authors: DOBKIN CS NOLIN SL COHEN I SUDHALTER V BIALER MG DING XH JENKINS EC ZHONG N BROWN WT
Citation: Cs. Dobkin et al., TISSUE DIFFERENCES IN FRAGILE-X MOSAICS - MOSAICISM IN BLOOD-CELLS MAY DIFFER GREATLY FROM SKIN, American journal of medical genetics, 64(2), 1996, pp. 296-301
CHARACTERIZATION OF A DE-NOVO T(Y-9)(Q11.2-Q22) BY FISH TECHNIQUE
Authors: CONTE RA KLEYMAN SM KLEIN V BIALER MG VERMA RS
Citation: Ra. Conte et al., CHARACTERIZATION OF A DE-NOVO T(Y-9)(Q11.2-Q22) BY FISH TECHNIQUE, Annales de genetique, 39(1), 1996, pp. 10-15
MECHANISMS OF THE ORIGIN OF A G-POSITIVE BAND WITHIN THE SECONDARY CONSTRICTION REGION OF HUMAN-CHROMOSOME-9
Authors: MACERA MJ VERMA RS CONTE RA BIALER MG KLEIN VR
Citation: Mj. Macera et al., MECHANISMS OF THE ORIGIN OF A G-POSITIVE BAND WITHIN THE SECONDARY CONSTRICTION REGION OF HUMAN-CHROMOSOME-9, Cytogenetics and cell genetics, 69(3-4), 1995, pp. 235-239
MITOCHONDRIAL ENCEPHALOMYOPATHY ASSOCIATED WITH A SINGLE NUCLEOTIDE PAIR DELETION IN THE MITOCHONDRIAL TRNA(LEU(UUR)) GENE
Authors: SHOFFNER JM BIALER MG PAVLAKIS SG LOTT M KAUFMAN A DIXON J TEICHBERG S WALLACE DC
Citation: Jm. Shoffner et al., MITOCHONDRIAL ENCEPHALOMYOPATHY ASSOCIATED WITH A SINGLE NUCLEOTIDE PAIR DELETION IN THE MITOCHONDRIAL TRNA(LEU(UUR)) GENE, Neurology, 45(2), 1995, pp. 286-292
INFANTILE MARFAN-SYNDROME (IMS) DUE TO DE-NOVO SPLICE-SITE MUTATION IN THE FIBRILLIN GENE
Authors: SPINAZZOLA RM LIU W BRENN T BIALER MG FURTHMAYR H FRANCKE U
Citation: Rm. Spinazzola et al., INFANTILE MARFAN-SYNDROME (IMS) DUE TO DE-NOVO SPLICE-SITE MUTATION IN THE FIBRILLIN GENE, American journal of human genetics, 57(4), 1995, pp. 1324-1324
PRENATAL-DIAGNOSIS OF VERY LONG-CHAIN ACYL-COA DEHYDROGENASE (VLCAD) DEFICIENCY
Authors: BIALER MG NADA MA VIANEYSABAN C ROE CR MATHIEU M MCGLYNN JA DING JH MANDON G SLONIM AE
Citation: Mg. Bialer et al., PRENATAL-DIAGNOSIS OF VERY LONG-CHAIN ACYL-COA DEHYDROGENASE (VLCAD) DEFICIENCY, American journal of human genetics, 57(4), 1995, pp. 1600-1600
MOLECULAR CHARACTERIZATION OF A DE-NOVO T(Y-9)(Q11.2-Q22) BY FISH TECHNIQUE
Authors: KLEIN V CONTE RA BIALER MG KLEYMAN S VERMA RS
Citation: V. Klein et al., MOLECULAR CHARACTERIZATION OF A DE-NOVO T(Y-9)(Q11.2-Q22) BY FISH TECHNIQUE, American journal of human genetics, 57(4), 1995, pp. 1799-1799
DIFFERENCES BETWEEN MOSAICISM IN BLOOD-CELLS AND SKIN FIBROBLASTS SUGGEST THAT SHIN MAY BETTER PREDICT BRAIN-FUNCTION
Authors: DOBKIN CS NOLIN SL COHEN J SUDHALTER V BIALER MG DING XH JENKINS EC ZHONG N BROWN WT
Citation: Cs. Dobkin et al., DIFFERENCES BETWEEN MOSAICISM IN BLOOD-CELLS AND SKIN FIBROBLASTS SUGGEST THAT SHIN MAY BETTER PREDICT BRAIN-FUNCTION, American journal of human genetics, 57(4), 1995, pp. 1953-1953
POSTNATAL CONFIRMATION OF PRENATALLY DIAGNOSED TRISOMY-16 MOSAICISM IN 2 PHENOTYPICALLY ABNORMAL LIVEBORNS
Authors: PLETCHER BA SANZ MM SCHLESSEL JS KUNAPORN S MCKENNA C BIALER MG ALONSO ML ZASLAV AL BROWN WT RAY JH
Citation: Ba. Pletcher et al., POSTNATAL CONFIRMATION OF PRENATALLY DIAGNOSED TRISOMY-16 MOSAICISM IN 2 PHENOTYPICALLY ABNORMAL LIVEBORNS, Prenatal diagnosis, 14(10), 1994, pp. 933-940
PRENATAL-DIAGNOSIS OF THROMBOCYTOPENIA IN TAR SYNDROME
Authors: BIALER MG
Citation: Mg. Bialer, PRENATAL-DIAGNOSIS OF THROMBOCYTOPENIA IN TAR SYNDROME, Prenatal diagnosis, 14(1), 1994, pp. 74-75
PRENATAL-DIAGNOSIS OF GORLIN SYNDROME
Authors: BIALER MG GAILANI MR MCLAUGHLIN JA PETRIKOVSKY B BALE AE
Citation: Mg. Bialer et al., PRENATAL-DIAGNOSIS OF GORLIN SYNDROME, Lancet, 344(8920), 1994, pp. 477-477
A NEW MITOCHONDRIAL ENCEPHALOMYOPATHY ASSOCIATED WITH THE 3271 MITOCHONDRIAL-DNA POINT MUTATION
Authors: BIALER MG SHOFFNER JM PAVLAKIS SG KAUFMAN AE TEICHBERG S MISTHOS M
Citation: Mg. Bialer et al., A NEW MITOCHONDRIAL ENCEPHALOMYOPATHY ASSOCIATED WITH THE 3271 MITOCHONDRIAL-DNA POINT MUTATION, American journal of human genetics, 53(3), 1993, pp. 1127-1127
TRISOMY-16 MOSAICISM - POSTNATAL CONFIRMATION OF 2 PRENATALLY DIAGNOSED CASES IN PHENOTYPICALLY ABNORMAL LIVEBORNS
Authors: RAY JH SANZ MM SCHLESSEL JS KUNAPORN S MCKENNA C BIALER MG ALONSO ML ZASLAV AL BROWN WT PLETCHER BA
Citation: Jh. Ray et al., TRISOMY-16 MOSAICISM - POSTNATAL CONFIRMATION OF 2 PRENATALLY DIAGNOSED CASES IN PHENOTYPICALLY ABNORMAL LIVEBORNS, American journal of human genetics, 53(3), 1993, pp. 1452-1452
INCORRECT PRENATAL-DIAGNOSIS OF CONGENITAL NEPHROTIC SYNDROME-FINNISHTYPE
Authors: SILVERBERG GS BIALER MG
Citation: Gs. Silverberg et Mg. Bialer, INCORRECT PRENATAL-DIAGNOSIS OF CONGENITAL NEPHROTIC SYNDROME-FINNISHTYPE, American journal of human genetics, 53(3), 1993, pp. 1457-1457
PRENATAL ASSESSMENT OF BREAST BUD SIZE AS A POSSIBLE PREDICTOR OF TRISOMY-21
Authors: PETRIKOVSKY BM PLETCHER BA BIALER MG KLEIN VR WYSE LJ BAIG S
Citation: Bm. Petrikovsky et al., PRENATAL ASSESSMENT OF BREAST BUD SIZE AS A POSSIBLE PREDICTOR OF TRISOMY-21, American journal of human genetics, 53(3), 1993, pp. 1806-1806
Risultati: 1-21 |