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Results: 1-18 |
Results: 18
THE ROLE OF MAGNESIUM IN THE PATHOGENESIS OF BONE-DISEASE IN CHILDHOOD CHOLESTATIC LIVER-DISEASE - A PRELIMINARY-REPORT
Authors: HEUBI JE HIGGINS JV ARGAO EA SIERRA RI SPECKER BL
Citation: Je. Heubi et al., THE ROLE OF MAGNESIUM IN THE PATHOGENESIS OF BONE-DISEASE IN CHILDHOOD CHOLESTATIC LIVER-DISEASE - A PRELIMINARY-REPORT, Journal of pediatric gastroenterology and nutrition, 25(3), 1997, pp. 301-306
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
A TRANSLOCATION INTERRUPTS THE COL5A1 GENE IN A PATIENT WITH EHLERS-DANLOS SYNDROME AND HYPOMELANOSIS OF ITO
Authors: TORIELLO HV GLOVER TW TAKAHARA K BYERS PH MILLER DE HIGGINS JV GREENSPAN DS
Citation: Hv. Toriello et al., A TRANSLOCATION INTERRUPTS THE COL5A1 GENE IN A PATIENT WITH EHLERS-DANLOS SYNDROME AND HYPOMELANOSIS OF ITO, Nature genetics, 13(3), 1996, pp. 361-365
22Q DUPLICATION VS DELETION - A PHENOTYPIC PARADOX
Authors: HIGGINS JV TORIELLO H KOHUT G
Citation: Jv. Higgins et al., 22Q DUPLICATION VS DELETION - A PHENOTYPIC PARADOX, Cytogenetics and cell genetics, 71(4), 1995, pp. 394-394
CRANIODIGITAL SYNDROMES - REPORT OF A CHILD WITH FILIPPI SYNDROME ANDDISCUSSION OF DIFFERENTIAL-DIAGNOSIS
Authors: TORIELLO HV HIGGINS JV
Citation: Hv. Toriello et Jv. Higgins, CRANIODIGITAL SYNDROMES - REPORT OF A CHILD WITH FILIPPI SYNDROME ANDDISCUSSION OF DIFFERENTIAL-DIAGNOSIS, American journal of medical genetics, 55(2), 1995, pp. 200-204
ANALYSIS OF THE 22Q11 DELETION IN CASES REFERRED FOR VELOCARDIOFACIALSYNDROME, DIGEORGE SEQUENCE, OR TETRALOGY OF FALLOT
Authors: HIGGINS JV TORIELLO HV MEILENGER K
Citation: Jv. Higgins et al., ANALYSIS OF THE 22Q11 DELETION IN CASES REFERRED FOR VELOCARDIOFACIALSYNDROME, DIGEORGE SEQUENCE, OR TETRALOGY OF FALLOT, American journal of human genetics, 57(4), 1995, pp. 645-645
22Q DUPLICATION VERSUS DELETION - A PHENOTYPIC PARADOX
Authors: HIGGINS JV KOHUT G
Citation: Jv. Higgins et G. Kohut, 22Q DUPLICATION VERSUS DELETION - A PHENOTYPIC PARADOX, American journal of human genetics, 57(4), 1995, pp. 726-726
PROGRESS IN PEDIATRIC HEPATOLOGY
Authors: HIGGINS JV BALISTRERI WF
Citation: Jv. Higgins et Wf. Balistreri, PROGRESS IN PEDIATRIC HEPATOLOGY, Current opinion in gastroenterology, 10(3), 1994, pp. 331-336
DOWN-REGULATION OF TAUROCHOLATE TRANSPORT BY ILEAL BBM AND LIVER BLM IN BILIARY-DIVERTED RATS
Authors: HIGGINS JV PAUL JM DUMASWALA R HEUBI JE
Citation: Jv. Higgins et al., DOWN-REGULATION OF TAUROCHOLATE TRANSPORT BY ILEAL BBM AND LIVER BLM IN BILIARY-DIVERTED RATS, American journal of physiology: Gastrointestinal and liver physiology, 30(4), 1994, pp. 501-507
PRENATAL-DIAGNOSIS OF SMITH-LEMLI-OPITZ SYNDROME, TYPE-II
Authors: JOHNSON JA AUGHTON DJ COMSTOCK CH VONOEYEN PT HIGGINS JV SCHULZ R
Citation: Ja. Johnson et al., PRENATAL-DIAGNOSIS OF SMITH-LEMLI-OPITZ SYNDROME, TYPE-II, American journal of medical genetics, 49(2), 1994, pp. 240-243
MAGNESIUM-DEFICIENCY IN CHRONIC CHILDHOOD CHOLESTATIC LIVER-DISEASE
Authors: HIGGINS JV ARGAO EA SIERRA RI TSANG RC HEUBI JE
Citation: Jv. Higgins et al., MAGNESIUM-DEFICIENCY IN CHRONIC CHILDHOOD CHOLESTATIC LIVER-DISEASE, Pediatric research, 35(4), 1994, pp. 10000128-10000128
UP-REGULATION OF TAUROCHOLATE TRANSPORT BY ILEAL BRUSH-BORDER MEMBRANE IN BILE-SALT FED RATS
Authors: HIGGINS JV DUMASWALA R HEUBI JE
Citation: Jv. Higgins et al., UP-REGULATION OF TAUROCHOLATE TRANSPORT BY ILEAL BRUSH-BORDER MEMBRANE IN BILE-SALT FED RATS, Gastroenterology, 106(4), 1994, pp. 10000906-10000906
FINE MAPPING OF X-LINKED CLASPED THUMB AND MENTAL-RETARDATION (MASA SYNDROME) IN XQ28
Authors: LEGIUS E KAEPERNICK L HIGGINS JV GLOVER TW
Citation: E. Legius et al., FINE MAPPING OF X-LINKED CLASPED THUMB AND MENTAL-RETARDATION (MASA SYNDROME) IN XQ28, Clinical genetics, 45(4), 1994, pp. 165-168
DETECTION OF NEW PATERNAL DYSTROPHIN GENE-MUTATIONS IN ISOLATED CASESOF DYSTROPHINOPATHY IN FEMALES
Authors: PEGORARO E SCHIMKE RN ARAHATA K HAYASHI Y STERN H MARKS H GLASBERG MR CARROLL JE TABER JW WESSEL HB BAUSERMAN SC MARKS WA TORIELLO HV HIGGINS JV APPLETON S SCHWARTZ L GARCIA CA HOFFMAN EP
Citation: E. Pegoraro et al., DETECTION OF NEW PATERNAL DYSTROPHIN GENE-MUTATIONS IN ISOLATED CASESOF DYSTROPHINOPATHY IN FEMALES, American journal of human genetics, 54(6), 1994, pp. 989-1003
TRANSLOCATION BREAKPOINT IN AARSKOG SYNDROME MAPS TO XP11.21 BETWEEN ALAS2 AND DXS323
Authors: GLOVER TW VERGA V RAFAEL J BARCROFT C GORSKI JL BAWLE EV HIGGINS JV
Citation: Tw. Glover et al., TRANSLOCATION BREAKPOINT IN AARSKOG SYNDROME MAPS TO XP11.21 BETWEEN ALAS2 AND DXS323, Human molecular genetics, 2(10), 1993, pp. 1717-1718
REESTABLISHMENT OF HEPATOBILIARY TAUROCHOLATE (TC) TRANSPORT DURING POSTOBSTRUCTIVE CHOLERESIS
Authors: DUMASWALA R HIGGINS JV PAUL JM DAUGHERTY CC HEUBI JE
Citation: R. Dumaswala et al., REESTABLISHMENT OF HEPATOBILIARY TAUROCHOLATE (TC) TRANSPORT DURING POSTOBSTRUCTIVE CHOLERESIS, Hepatology, 18(4), 1993, pp. 10000297-10000297
BILE-SALT FEEDING UP-REGULATES ILEAL AND HEPATIC TAUROCHOLATE TRANSPORT IN THE RAT
Authors: HIGGINS JV DUMASWALA R HEUBI JE
Citation: Jv. Higgins et al., BILE-SALT FEEDING UP-REGULATES ILEAL AND HEPATIC TAUROCHOLATE TRANSPORT IN THE RAT, Hepatology, 18(4), 1993, pp. 10000298-10000298
PROVISIONALLY UNIQUE AUTOSOMAL RECESSIVE CHONDRODYSPLASIA PUNCTATA SYNDROME
Authors: TORIELLO HV HIGGINS JV MILLER T
Citation: Hv. Toriello et al., PROVISIONALLY UNIQUE AUTOSOMAL RECESSIVE CHONDRODYSPLASIA PUNCTATA SYNDROME, American journal of medical genetics, 47(5), 1993, pp. 797-799
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