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Results: 1-23 |
Results: 23
NATURAL-HISTORY OF CANAVAN-DISEASE IN US PATIENTS
Authors: CAROLAN HM PAGON RA HUDGINS L
Citation: Hm. Carolan et al., NATURAL-HISTORY OF CANAVAN-DISEASE IN US PATIENTS, Journal of investigative medicine, 46(1), 1998, pp. 86-86
SHPRINTZEN-GOLDBERG-SYNDROME - A CLINICAL ANALYSIS
Authors: GREALLY MT CAREY JC MILEWICZ DM HUDGINS L GOLDBERG RB SHPRINTZEN RJ COUSINEAU AJ SMITH WL JUDISCH GF HANSON JW
Citation: Mt. Greally et al., SHPRINTZEN-GOLDBERG-SYNDROME - A CLINICAL ANALYSIS, American journal of medical genetics, 76(3), 1998, pp. 202-212
ATYPICAL GLANDULAR CELLS OF UNDETERMINED SIGNIFICANCE - A 5-YEAR RETROSPECTIVE HISTOPATHOLOGIC STUDY - DISCUSSION
Authors: HUDGINS L AZOURY RS",VELJOVICH
Citation: L. Hudgins et Azoury Rs",veljovich, ATYPICAL GLANDULAR CELLS OF UNDETERMINED SIGNIFICANCE - A 5-YEAR RETROSPECTIVE HISTOPATHOLOGIC STUDY - DISCUSSION, American journal of obstetrics and gynecology, 179(2), 1998, pp. 388-390
DIGITAL ANOMALIES, MICROCEPHALY, AND NORMAL INTELLIGENCE - NEW SYNDROME OR FEINGOLD SYNDROME
Authors: KAWAME H PAGON RA HUDGINS L
Citation: H. Kawame et al., DIGITAL ANOMALIES, MICROCEPHALY, AND NORMAL INTELLIGENCE - NEW SYNDROME OR FEINGOLD SYNDROME, American journal of medical genetics, 69(3), 1997, pp. 240-244
FACTORS FAVORING THE DIAGNOSTIC YIELD OF 2ND CYTOGENETIC STUDIES FOR CONSTITUTIONAL ABNORMALITIES
Authors: LEPPIG KA DISTECHE CM OPHEIM KE PAGON RA HUDGINS L
Citation: Ka. Leppig et al., FACTORS FAVORING THE DIAGNOSTIC YIELD OF 2ND CYTOGENETIC STUDIES FOR CONSTITUTIONAL ABNORMALITIES, American journal of human genetics, 61(4), 1997, pp. 153-153
IN DEFENSE OF STREETERS BANDS - A PREDICTABLE PATTERN OF CONSTRICTINGBANDS WITH OTHER ANOMALIES
Authors: PAGON RA HUDGINS L KAPUR R
Citation: Ra. Pagon et al., IN DEFENSE OF STREETERS BANDS - A PREDICTABLE PATTERN OF CONSTRICTINGBANDS WITH OTHER ANOMALIES, Journal of investigative medicine, 44(1), 1996, pp. 131-131
CHARACTERIZATION OF THE SPLIT HAND SPLIT FOOT MALFORMATION LOCUS SHFM1 AT 7Q21.3-Q22.1 AND ANALYSIS OF A CANDIDATE GENE FOR ITS EXPRESSION DURING LIMB DEVELOPMENT
Authors: CRACKOWER MA SCHERER SW ROMMENS JM HUI CC POORKAJ P SODER S COBBEN JM HUDGINS L EVANS JP TSUI LC
Citation: Ma. Crackower et al., CHARACTERIZATION OF THE SPLIT HAND SPLIT FOOT MALFORMATION LOCUS SHFM1 AT 7Q21.3-Q22.1 AND ANALYSIS OF A CANDIDATE GENE FOR ITS EXPRESSION DURING LIMB DEVELOPMENT, Human molecular genetics, 5(5), 1996, pp. 571-579
NONESTERIFIED FATTY-ACIDS ARE NOT RELATED TO PLASMA APO-B LEVELS IN FAMILIAL COMBINED HYPERLIPIDEMIA
Authors: SHAMIR R WILLIAMS KJ HUDGINS L LEVINE D CORTNER JA FISHER EA
Citation: R. Shamir et al., NONESTERIFIED FATTY-ACIDS ARE NOT RELATED TO PLASMA APO-B LEVELS IN FAMILIAL COMBINED HYPERLIPIDEMIA, The FASEB journal, 10(3), 1996, pp. 3003-3003
10TH ANNUAL SCIENTIFIC CONFERENCE OF THE PRADER-WILLI-SYNDROME-ASSOCIATION (USA), JULY 19, 1995, SEATTLE, WASHINGTON
Authors: HOLM VA HUDGINS L CASSIDY SB
Citation: Va. Holm et al., 10TH ANNUAL SCIENTIFIC CONFERENCE OF THE PRADER-WILLI-SYNDROME-ASSOCIATION (USA), JULY 19, 1995, SEATTLE, WASHINGTON, American journal of medical genetics, 64(4), 1996, pp. 573-574
A BALANCED Y-16 TRANSLOCATION ASSOCIATED WITH TURNER-LIKE NEONATAL LYMPHEDEMA SUGGESTS THE LOCATION OF A POTENTIAL ANTI-TURNER GENE ON THE Y-CHROMOSOME
Authors: ERICKSON RP HUDGINS L STONE JF SCHMIDT S WILKE C GLOVER TW
Citation: Rp. Erickson et al., A BALANCED Y-16 TRANSLOCATION ASSOCIATED WITH TURNER-LIKE NEONATAL LYMPHEDEMA SUGGESTS THE LOCATION OF A POTENTIAL ANTI-TURNER GENE ON THE Y-CHROMOSOME, Cytogenetics and cell genetics, 71(2), 1995, pp. 163-167
PHYSICAL MAPPING OF THE SPILT HAND SPLIT FOOT (SHSF) LOCUS ON CHROMOSOME-7 AND IMPLICATION IN THE SYNDROMIC ECTRODACTYLIES
Authors: EVANS JP SCHERER SW CRACKOWER M POORKAJ P MASSA H NUNES ME GESHURI D HUDGINS L TRASK B TSUI LC
Citation: Jp. Evans et al., PHYSICAL MAPPING OF THE SPILT HAND SPLIT FOOT (SHSF) LOCUS ON CHROMOSOME-7 AND IMPLICATION IN THE SYNDROMIC ECTRODACTYLIES, Cytogenetics and cell genetics, 71(1), 1995, pp. 29-29
TIBIAL HEMIMELIA - REPORT OF 11 CASES, REVIEW OF THE LITERATURE AND PROPOSED CLASSIFICATION-SYSTEM
Authors: HUDGINS L JAFFE K MOSCA V
Citation: L. Hudgins et al., TIBIAL HEMIMELIA - REPORT OF 11 CASES, REVIEW OF THE LITERATURE AND PROPOSED CLASSIFICATION-SYSTEM, American journal of human genetics, 57(4), 1995, pp. 97-97
PHENOTYPIC SPECTRUM OF KABUKI MAKE-UP SYNDROME, IN 15 NORTH-AMERICAN PATIENTS
Authors: KAWAME H HUDGINS L PAGON RA
Citation: H. Kawame et al., PHENOTYPIC SPECTRUM OF KABUKI MAKE-UP SYNDROME, IN 15 NORTH-AMERICAN PATIENTS, American journal of human genetics, 57(4), 1995, pp. 515-515
PATIENT WITH 46,XX,DEL(18)(P11) 46,XX,I(18Q) KARYOTYPE - MOSAICISM FOR 2 DIFFERENT STRUCTURAL CHROMOSOME-ABNORMALITIES, POSSIBLY THE RESULTOF CENTROMERIC MISDIVISION/
Authors: LEPPIG KA OPHEIM KE MCLAUGHLIN JF HUDGINS L
Citation: Ka. Leppig et al., PATIENT WITH 46,XX,DEL(18)(P11) 46,XX,I(18Q) KARYOTYPE - MOSAICISM FOR 2 DIFFERENT STRUCTURAL CHROMOSOME-ABNORMALITIES, POSSIBLY THE RESULTOF CENTROMERIC MISDIVISION/, American journal of human genetics, 57(4), 1995, pp. 664-664
POTENTIAL FOR A FALSE-POSITIVE DIAGNOSIS OF MYOTONIC-DYSTROPHY (DM) DUE TO A BGII POLYMORPHISM
Authors: MOORE DK LEPPIG KA HUDGINS L STEPHENS K
Citation: Dk. Moore et al., POTENTIAL FOR A FALSE-POSITIVE DIAGNOSIS OF MYOTONIC-DYSTROPHY (DM) DUE TO A BGII POLYMORPHISM, American journal of human genetics, 57(4), 1995, pp. 1930-1930
ISOLATED PERSISTENT HYPERMETHIONINEMIA
Authors: MUDD SH LEVY HL TANGERMAN A BOUJET C BUIST N DAVIDSONMUNDT A HUDGINS L OYANAGI K NAGAO M WILSON WG
Citation: Sh. Mudd et al., ISOLATED PERSISTENT HYPERMETHIONINEMIA, American journal of human genetics, 57(4), 1995, pp. 882-892
JARCHO-LEVIN SYNDROME - UNUSUAL SURVIVAL IN A CLASSICAL CASE
Authors: MCCALL CP HUDGINS L CLOUTIER M GREENSTEIN RM CASSIDY SB
Citation: Cp. Mccall et al., JARCHO-LEVIN SYNDROME - UNUSUAL SURVIVAL IN A CLASSICAL CASE, American journal of medical genetics, 49(3), 1994, pp. 328-332
DOWN-SYNDROME PHENOTYPES - THE CONSEQUENCES OF CHROMOSOMAL IMBALANCE (VOL 91, PG 4997, 1994)
Authors: KORENBERG JR CHEN XN SCHIPPER R SUN Z GONSKY R GERWEHR S CARPENTER N DAUMER C DIGNAN P DISTECHE C GRAHAM JM HUDGINS L MCGILLIVRAY B MIYAZAKI K OGASAWARA N PARK JP PAGON R PUESCHEL S SACK G SAY B SCHUFFENHAUER S SOUKUP S YAMANAKA T
Citation: Jr. Korenberg et al., DOWN-SYNDROME PHENOTYPES - THE CONSEQUENCES OF CHROMOSOMAL IMBALANCE (VOL 91, PG 4997, 1994), Proceedings of the National Academy of Sciences of the United Statesof America, 91(23), 1994, pp. 11281-11281
MOLECULAR MAPPING OF THE EDWARDS-SYNDROME PHENOTYPE TO 2 NONCONTIGUOUS REGIONS ON CHROMOSOME-18
Authors: BOGHOSIANSELL L MEWAR R HARRISON W SHAPIRO RM ZACKAI EH CAREY J DAVISKEPPEN L HUDGINS L OVERHAUSER J
Citation: L. Boghosiansell et al., MOLECULAR MAPPING OF THE EDWARDS-SYNDROME PHENOTYPE TO 2 NONCONTIGUOUS REGIONS ON CHROMOSOME-18, American journal of human genetics, 55(3), 1994, pp. 476-483
WAVELET TRANSFORMS AND ATMOSPHERIC-TURBULENCE
Authors: HUDGINS L FRIEHE CA MAYER ME
Citation: L. Hudgins et al., WAVELET TRANSFORMS AND ATMOSPHERIC-TURBULENCE, Physical review letters, 71(20), 1993, pp. 3279-3282
SEGMENTAL SPINAL DYSGENESIS - A RARE MALFORMATION OF THE SPINE IN 3 INFANTS OF DIABETIC MOTHERS
Authors: HUDGINS L SHINDELL R REKATE HL RICHTER SF
Citation: L. Hudgins et al., SEGMENTAL SPINAL DYSGENESIS - A RARE MALFORMATION OF THE SPINE IN 3 INFANTS OF DIABETIC MOTHERS, American journal of human genetics, 53(3), 1993, pp. 453-453
ATHELIA AND NATAL TEETH IN A FEMALE - AN UNUSUAL PRESENTATION OF ECTODERMAL DYSPLASIA
Authors: RICHTER SF LORENTSEN K HUDGINS L
Citation: Sf. Richter et al., ATHELIA AND NATAL TEETH IN A FEMALE - AN UNUSUAL PRESENTATION OF ECTODERMAL DYSPLASIA, American journal of human genetics, 53(3), 1993, pp. 496-496
DISPARATE CLINICAL EXPRESSION IN 2 PATIENTS WITH DUPLICATION 3Q26.32Q29, ONE INVERTED AND ONE DIRECT, AND CORRELATION WITH THE DELANGE,CORNELIA (CDL) PHENOTYPE
Authors: ALECK K PEARSON M RICHTER S PERSINGER G STONE J HUDGINS L
Citation: K. Aleck et al., DISPARATE CLINICAL EXPRESSION IN 2 PATIENTS WITH DUPLICATION 3Q26.32Q29, ONE INVERTED AND ONE DIRECT, AND CORRELATION WITH THE DELANGE,CORNELIA (CDL) PHENOTYPE, American journal of human genetics, 53(3), 1993, pp. 522-522
Risultati: 1-23 |