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Table of contents of journal: *Human molecular genetics (Print)

Results: 1-25/267

Authors: BENARIE N MCCALL AE BERKMAN S EICHELE G BELLEN HJ ZOGHBI HY
Citation: N. Benarie et al., EVOLUTIONARY CONSERVATION OF SEQUENCE AND EXPRESSION OF THE BHLH PROTEIN ATONAL SUGGESTS A CONSERVED ROLE IN NEUROGENESIS, Human molecular genetics, 5(9), 1996, pp. 1207-1216

Authors: ENGEL AG OHNO K MILONE M WANG HL NAKANO S BOUZAT C PRUITT JN HUTCHINSON DO BRENGMAN JM BREN N SIEB JP SINE SM
Citation: Ag. Engel et al., NEW MUTATIONS IN ACETYLCHOLINE-RECEPTOR SUBUNIT GENES REVEAL HETEROGENEITY IN THE SLOW-CHANNEL CONGENITAL MYASTHENIC SYNDROME, Human molecular genetics, 5(9), 1996, pp. 1217-1227

Authors: DEKOK YJM VOSSENAAR ER CREMERS CWRJ DAHL N LAPORTE J HU LJ LACOMBE D FISCHELGHODSIAN N FRIEDMAN RA PARNES LS THORPE P BITNERGLINDZICZ M PANDER HJ HEILBRONNER H GRAVELINE J DENDUNNEN JT BRUNNER HG ROPERS HH CREMERS FPM
Citation: Yjm. Dekok et al., IDENTIFICATION OF A HOT-SPOT FOR MICRODELETIONS IN PATIENTS WITH X-LINKED DEAFNESS TYPE-3 (DFN3) 900 KB PROXIMAL TO THE DFN3 GENE POU3F4, Human molecular genetics, 5(9), 1996, pp. 1229-1235

Authors: KANGAS H PAUNIO T KALKKINEN N JALANKO A PELTONEN L
Citation: H. Kangas et al., IN-VITRO EXPRESSION ANALYSIS SHOWS THAT THE SECRETORY FORM OF GELSOLIN IS THE SOLE SOURCE OF AMYLOID IN GELSOLIN-RELATED AMYLOIDOSIS, Human molecular genetics, 5(9), 1996, pp. 1237-1243

Authors: MOSLEIN G TESTER DJ LINDOR NM HONCHEL R CUNNINGHAM JM FRENCH AJ HALLING KC SCHWAB M GORETZKI P THIBODEAU SN
Citation: G. Moslein et al., MICROSATELLITE INSTABILITY AND MUTATION ANALYSIS OF HMSH2 AND HMLH1 IN PATIENTS WITH SPORADIC, FAMILIAL AND HEREDITARY COLORECTAL-CANCER, Human molecular genetics, 5(9), 1996, pp. 1245-1252

Authors: TANAKA F DOYU M ITO Y MATSUMOTO M MITSUMA T ABE K AOKI M ITOYAMA Y FISCHBECK KH SOBUE G
Citation: F. Tanaka et al., FOUNDER EFFECT IN SPINAL AND BULBAR MUSCULAR-ATROPHY (SBMA), Human molecular genetics, 5(9), 1996, pp. 1253-1257

Authors: YOTSUMOTO S FUJIWARA H HORTON JH MOSBY TA WANG XQ CUI YS KO MSH
Citation: S. Yotsumoto et al., CLONING AND EXPRESSION ANALYSES OF MOUSE DYSTROGLYCAN GENE - SPECIFICEXPRESSION IN MATERNAL DECIDUA AT THE PERIIMPLANTATION STAGE, Human molecular genetics, 5(9), 1996, pp. 1259-1267

Authors: IMBEAUD S BELVILLE C MESSIKAZEITOUN L REY R DICLEMENTE N JOSSO N PICARD JY
Citation: S. Imbeaud et al., A 27 BASE-PAIR DELETION OF THE ANTI-MULLERIAN TYPE-II RECEPTOR GENE IS THE MOST COMMON-CAUSE OF THE PERSISTENT MULLERIAN DUCT SYNDROME, Human molecular genetics, 5(9), 1996, pp. 1269-1277

Authors: PAGE SL SHIN JC HAN JY CHOO KHA SHAFFER LG
Citation: Sl. Page et al., BREAKPOINT DIVERSITY ILLUSTRATES DISTINCT MECHANISMS FOR ROBERTSONIANTRANSLOCATION FORMATION, Human molecular genetics, 5(9), 1996, pp. 1279-1288

Authors: SZABO CI WAGNER LA FRANCISCO LV ROACH JC ARGONZA R KING MC OSTRANDER EA
Citation: Ci. Szabo et al., HUMAN, CANINE AND MURINE BRCA1 GENES - SEQUENCE COMPARISON AMONG SPECIES, Human molecular genetics, 5(9), 1996, pp. 1289-1298

Authors: GREENBERG DS SCHATZ Y LEVY Z PIZZO P YAFFE D NUDEL U
Citation: Ds. Greenberg et al., REDUCED LEVELS OF DYSTROPHIN-ASSOCIATED PROTEINS IN THE BRAINS OF MICE DEFICIENT FOR DP71, Human molecular genetics, 5(9), 1996, pp. 1299-1303

Authors: GUIMERA J CASAS C PUCHARCOS C SOLANS A DOMENECH A PLANAS AM ASHLEY J LOVETT M ESTIVILL X PRITCHARD MA
Citation: J. Guimera et al., A HUMAN HOMOLOG OF DROSOPHILA MINIBRAIN (MNB) IS EXPRESSED IN THE NEURONAL REGIONS AFFECTED IN DOWN-SYNDROME AND MAPS TO THE CRITICAL REGION, Human molecular genetics, 5(9), 1996, pp. 1305-1310

Authors: KOSHY B MATILLA T BURRIGHT EN MERRY DE FISCHBECK KH ORR HT ZOGHBI HY
Citation: B. Koshy et al., SPINOCEREBELLAR ATAXIA TYPE-1 AND SPINOBULBAR MUSCULAR-ATROPHY GENE-PRODUCTS INTERACT WITH GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE, Human molecular genetics, 5(9), 1996, pp. 1311-1318

Authors: RUSSELL MW DICK M COLLINS FS BRODY LC
Citation: Mw. Russell et al., KVLQT1 MUTATIONS IN 3 FAMILIES WITH FAMILIAL OR SPORADIC LONG QT SYNDROME, Human molecular genetics, 5(9), 1996, pp. 1319-1324

Authors: WEBB JC PATEL DD SHOULDERS CC KNIGHT BL SOUTAR AK
Citation: Jc. Webb et al., GENETIC-VARIATION AT A SPLICING BRANCH POINT IN INTRON-9 OF THE LOW-DENSITY-LIPOPROTEIN (LDL)-RECEPTOR GENE - A RARE MUTATION THAT DISRUPTSMESSENGER-RNA SPLICING IN A PATIENT WITH FAMILIAL HYPERCHOLESTEROLEMIA AND A COMMON POLYMORPHISM, Human molecular genetics, 5(9), 1996, pp. 1325-1331

Authors: SIDHAR SK CLARK J GILL S HAMOUDI R CREW AJ GWILLIAM R ROSS M LINEHAN WM BIRDSALL S SHIPLEY J COOPER CS
Citation: Sk. Sidhar et al., THE T(X-L)(P11.2-Q21.2) TRANSLOCATION IN PAPILLARY RENAL-CELL CARCINOMA FUSES A NOVEL GENE PRCC TO THE TFE3 TRANSCRIPTION FACTOR GENE, Human molecular genetics, 5(9), 1996, pp. 1333-1338

Authors: RICHARDS AJ YATES JRW WILLIAMS R PAYNE SJ POPE FM SCOTT JD SNEAD MP
Citation: Aj. Richards et al., A FAMILY WITH STICKLER SYNDROME TYPE-2 HAS A MUTATION IN THE COL11A1 GENE RESULTING IN THE SUBSTITUTION OF GLYCINE-97 BY VALINE IN ALPHA-1(XI) COLLAGEN, Human molecular genetics, 5(9), 1996, pp. 1339-1343

Authors: HANSEN RS CANFIELD TK FJELD AD GARTLER SM
Citation: Rs. Hansen et al., ROLE OF LATE REPLICATION TIMING IN THE SILENCING OF X-LINKED GENES, Human molecular genetics, 5(9), 1996, pp. 1345-1353

Authors: SHEARDOWN S NORRIS D FISHER A BROCKDORFF N
Citation: S. Sheardown et al., THE MOUSE SMCX GENE EXHIBITS DEVELOPMENTAL AND TISSUE-SPECIFIC VARIATION IN DEGREE OF ESCAPE FROM X-INACTIVATION, Human molecular genetics, 5(9), 1996, pp. 1355-1360

Authors: CARREL L HUNT PA WILLARD HF
Citation: L. Carrel et al., TISSUE AND LINEAGE-SPECIFIC VARIATION IN INACTIVE X-CHROMOSOME EXPRESSION OF THE MURINE SMCX GENE, Human molecular genetics, 5(9), 1996, pp. 1361-1366

Authors: KREMER H KUYT LP VANDENHELM B VANREEN M LEUNISSEN JAM HAMEL BCJ JANSEN C MARIMAN ECM FRANTS RR PADBERG GW
Citation: H. Kremer et al., LOCALIZATION OF A GENE FOR MOBIUS-SYNDROME TO CHROMOSOME 3Q BY LINKAGE ANALYSIS IN A DUTCH FAMILY, Human molecular genetics, 5(9), 1996, pp. 1367-1371

Authors: IONASESCU V SEARBY C SHEFFIELD VC ROKLINA T NISHIMURA D IONASESCU R
Citation: V. Ionasescu et al., AUTOSOMAL-DOMINANT CHARCOT-MARIE-TOOTH AXONAL NEUROPATHY MAPPED ON CHROMOSOME 7P (CMT2D), Human molecular genetics, 5(9), 1996, pp. 1373-1375

Authors: ISOZUMI K DELONG R KAPLAN J DENG HX IQBAL Z HUNG WY WILHELMSEN KC HENTATI A PERICAKVANCE MA SIDDIQUE T
Citation: K. Isozumi et al., LINKAGE OF SCAPULOPERONEAL SPINAL MUSCULAR-ATROPHY TO CHROMOSOME 12Q24.1-Q24.31, Human molecular genetics, 5(9), 1996, pp. 1377-1382

Authors: DELCASTILLO I VILLAMAR M SARDUY M ROMERO L HERAIZ C HERNANDEZ FJ RODRIGUEZ M BORRAS I MONTERO A BELLON J TAPIA MC MORENO F
Citation: I. Delcastillo et al., A NOVEL LOCUS FOR NON-SYNDROMIC SENSORINEURAL DEAFNESS (DFN6) MAPS TOCHROMOSOME XP22, Human molecular genetics, 5(9), 1996, pp. 1383-1387

Authors: GREGORY CY EVANS K WIJESURIYA SD KERMANI S JAY MR PLANT C COX N BIRD AC BHATTACHARYA SS
Citation: Cy. Gregory et al., THE GENE RESPONSIBLE FOR AUTOSOMAL-DOMINANT DOYNES-HONEYCOMB-RETINAL-DYSTROPHY (DHRD) MAPS TO CHROMOSOME-2P16 (VOL 5, PG 1055, 1996), Human molecular genetics, 5(9), 1996, pp. 1390-1390
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