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Results: 1-14 |
Results: 14
CHOLESTEROL SUPPLEMENTATION IN SMITH-LEMLI-OPITZ-SYNDROME
Authors: ABUELO DN
Citation: Dn. Abuelo, CHOLESTEROL SUPPLEMENTATION IN SMITH-LEMLI-OPITZ-SYNDROME, American journal of medical genetics, 78(4), 1998, pp. 378-378
CASE-REPORT OF 2 PRESENILIN (PS-1) MUTATIONS IN A FAMILY WITH EARLY-ONSET FAMILIAL ALZHEIMERS-DISEASE (EOFAD)
Authors: ANANTH UA SELTZER WK STGEORGEHYSLOP PH WALSH A ABUELO DN
Citation: Ua. Ananth et al., CASE-REPORT OF 2 PRESENILIN (PS-1) MUTATIONS IN A FAMILY WITH EARLY-ONSET FAMILIAL ALZHEIMERS-DISEASE (EOFAD), Neurology, 50(4), 1998, pp. 4111-4111
PREMATURE ALZHEIMER-DISEASE WAS NOT DUE TO TRAUMA - MOLECULAR-BIOLOGYREVISES DIAGNOSIS 15 YEARS AFTER PATIENTS AUTOPSY
Authors: ABUELO DN SELTZER W ANATH U OTT BR GEFFROY G
Citation: Dn. Abuelo et al., PREMATURE ALZHEIMER-DISEASE WAS NOT DUE TO TRAUMA - MOLECULAR-BIOLOGYREVISES DIAGNOSIS 15 YEARS AFTER PATIENTS AUTOPSY, Archives of neurology, 55(8), 1998, pp. 1155-1155
MATERNAL SERUM MARKER LEVELS IN 2 PREGNANCIES AFFECTED WITH SMITH-LEMLI-OPITZ-SYNDROME
Authors: CANICK JA ABUELO DN BRADLEY LA TINT GS
Citation: Ja. Canick et al., MATERNAL SERUM MARKER LEVELS IN 2 PREGNANCIES AFFECTED WITH SMITH-LEMLI-OPITZ-SYNDROME, Prenatal diagnosis, 17(2), 1997, pp. 187-189
MACROCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA - A DISTINCT DISORDER WITH DEVELOPMENTAL DELAY AND CONNECTIVE-TISSUE ABNORMALITIES
Authors: MOORE CA TORIELLO HV ABUELO DN BULL MJ CURRY CJR HALL BD HIGGINS JV STEVENS CA TWERSKY S WEKSBERG R DOBYNS WB
Citation: Ca. Moore et al., MACROCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA - A DISTINCT DISORDER WITH DEVELOPMENTAL DELAY AND CONNECTIVE-TISSUE ABNORMALITIES, American journal of medical genetics, 70(1), 1997, pp. 67-73
COMPARISON OF PSYCHOMOTOR DEVELOPMENT IN EARLY-TREATED AND LATER-TREATED SIBS WITH SMITH-LEMLI-OPITZ SYNDROME
Authors: ABUELO DN
Citation: Dn. Abuelo, COMPARISON OF PSYCHOMOTOR DEVELOPMENT IN EARLY-TREATED AND LATER-TREATED SIBS WITH SMITH-LEMLI-OPITZ SYNDROME, American journal of medical genetics, 68(3), 1997, pp. 1-1
LIMB DEFECTS AND CONGENITAL-ANOMALIES OF THE GENITALIA IN AN INFANT WITH HOMOZYGOUS ALPHA-THALASSEMIA
Authors: ABUELO DN FORMAN EN RUBIN LP
Citation: Dn. Abuelo et al., LIMB DEFECTS AND CONGENITAL-ANOMALIES OF THE GENITALIA IN AN INFANT WITH HOMOZYGOUS ALPHA-THALASSEMIA, American journal of medical genetics, 68(2), 1997, pp. 158-161
FAMILIAL EARLY-ONSET ALZHEIMER-DISEASE ASSOCIATED WITH MUTATIONS IN PRESENILIN-1
Authors: ABUELO DN WALSH A KOSIK KS SELTZER WK
Citation: Dn. Abuelo et al., FAMILIAL EARLY-ONSET ALZHEIMER-DISEASE ASSOCIATED WITH MUTATIONS IN PRESENILIN-1, American journal of human genetics, 61(4), 1997, pp. 2386-2386
QUANTIFICATION BY FLOW-CYTOMETRY OF CHROMOSOME-17 DELETIONS IN SMITH-MAGENIS SYNDROME PATIENTS
Authors: TRASK BJ MEFFORD H VANDENENGH G MASSA HF JUYAL RC POTOCKI L FINUCANE B ABUELO DN WITT DR MAGENIS E BALDINI A GREENBERG F LUPSKI JR PATEL PI
Citation: Bj. Trask et al., QUANTIFICATION BY FLOW-CYTOMETRY OF CHROMOSOME-17 DELETIONS IN SMITH-MAGENIS SYNDROME PATIENTS, Human genetics, 98(6), 1996, pp. 710-718
CARDIAC MALFORMATION IN 2 INFANTS WITH HYPOCHONDROGENESIS
Authors: POTOCKI L ABUELO DN OYER CE
Citation: L. Potocki et al., CARDIAC MALFORMATION IN 2 INFANTS WITH HYPOCHONDROGENESIS, American journal of medical genetics, 59(3), 1995, pp. 295-299
PRENATAL DETECTION OF THE CHOLESTEROL BIOSYNTHETIC DEFECT IN THE SMITH-LEMLI-OPITZ SYNDROME BY THE ANALYSIS OF AMNIOTIC LIQUID STEROLS
Authors: ABUELO DN TINT GS KELLEY R BATTA AK SHEFER S SALEN G
Citation: Dn. Abuelo et al., PRENATAL DETECTION OF THE CHOLESTEROL BIOSYNTHETIC DEFECT IN THE SMITH-LEMLI-OPITZ SYNDROME BY THE ANALYSIS OF AMNIOTIC LIQUID STEROLS, American journal of medical genetics, 56(3), 1995, pp. 281-285
CORRELATION OF SEVERITY AND OUTCOME WITH PLASMA STEROL LEVELS IN VARIANTS OF THE SMITH-LEMLI-OPITZ SYNDROME
Authors: TINT GS SALEN G BATTA AK SHEFER S IRONS M ELIAS ER ABUELO DN JOHNSON VP LAMBERT M LUTZ R SCHANEN C MORRIS CA HOGANSON G HUGHESBENZIE R
Citation: Gs. Tint et al., CORRELATION OF SEVERITY AND OUTCOME WITH PLASMA STEROL LEVELS IN VARIANTS OF THE SMITH-LEMLI-OPITZ SYNDROME, The Journal of pediatrics, 127(1), 1995, pp. 82-87
CONCORDANCE OF CLINICAL FINDINGS IN SIBLINGS WITH THE SMITH-LEMLI-OPITZ SYNDROME
Authors: CUNNIFF CM ABUELO DN ARN PH BARNSHAD MJ CAREY JC NWOKORO NA MULVIHILL JJ ZACKAI EH KELLEY RI
Citation: Cm. Cunniff et al., CONCORDANCE OF CLINICAL FINDINGS IN SIBLINGS WITH THE SMITH-LEMLI-OPITZ SYNDROME, American journal of human genetics, 57(4), 1995, pp. 471-471
FAMILIAL SITUS ABNORMALITIES AND CONGENITAL HEART-DISEASE
Authors: ABUELO DN FEIT LR
Citation: Dn. Abuelo et Lr. Feit, FAMILIAL SITUS ABNORMALITIES AND CONGENITAL HEART-DISEASE, American journal of human genetics, 53(3), 1993, pp. 395-395
Risultati: 1-14 |