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

Results: 1-25/583

Authors: HAWLEY RS FRAZIER JA RASOOLY R
Citation: Rs. Hawley et al., SEPARATION ANXIETY - THE ETIOLOGY OF NONDISJUNCTION IN FLIES AND PEOPLE - COMMENTARY, Human molecular genetics, 3(9), 1994, pp. 1521-1528

Authors: SHERMAN SL PETERSEN MB FREEMAN SB HERSEY J PETTAY D TAFT L FRANTZEN M MIKKELSEN M HASSOLD TJ
Citation: Sl. Sherman et al., NONDISJUNCTION OF CHROMOSOME-21 IN MATERNAL MEIOSIS-I - EVIDENCE FOR A MATERNAL AGE-DEPENDENT MECHANISM INVOLVING REDUCED RECOMBINATION, Human molecular genetics, 3(9), 1994, pp. 1529-1535

Authors: TOKINO T THIAGALINGAM S ELDEIRY WS WALDMAN T KINZLER KW VOGELSTEIN B
Citation: T. Tokino et al., P53 TAGGED SITES FROM HUMAN GENOMIC DNA, Human molecular genetics, 3(9), 1994, pp. 1537-1542

Authors: SNOW K TESTER DJ KRUCKEBERG KE SCHAID DJ THIBODEAU SN
Citation: K. Snow et al., SEQUENCE-ANALYSIS OF THE FRAGILE-X TRINUCLEOTIDE REPEAT - IMPLICATIONS FOR THE ORIGIN OF THE FRAGILE-X MUTATION, Human molecular genetics, 3(9), 1994, pp. 1543-1551

Authors: HIRST MC GREWAL PK DAVIES KE
Citation: Mc. Hirst et al., PRECURSOR ARRAYS FOR TRIPLET REPEAT EXPANSION AT THE FRAGILE-X LOCUS, Human molecular genetics, 3(9), 1994, pp. 1553-1560

Authors: BRUNNER HG VANBEERSUM SEC WARMAN ML OLSEN BR ROPERS HH MARIMAN ECM
Citation: Hg. Brunner et al., A STICKLER SYNDROME GENE IS LINKED TO CHROMOSOME-6 NEAR THE COL11A2 GENE, Human molecular genetics, 3(9), 1994, pp. 1561-1564

Authors: OKAMOTO N WADA Y IDA S KOGA R OZONO K CHIYO H HAYASHI A TATSUMI K
Citation: N. Okamoto et al., MONOALLELIC EXPRESSION OF NORMAL MESSENGER-RNA IN THE PIT1 MUTATION HETEROZYGOTES WITH NORMAL PHENOTYPE AND BIALLELIC EXPRESSION IN THE ABNORMAL PHENOTYPE, Human molecular genetics, 3(9), 1994, pp. 1565-1568

Authors: HAZAN J FONTAINE B BRUYN RPM LAMY C VANDEUTEKOM JCT RIME CS DURR A MELKI J LYONCAEN O AGID Y MUNNICH A PADBERG GW DERECONDO J FRANTS RR BRICE A WEISSENBACH J
Citation: J. Hazan et al., LINKAGE OF A NEW LOCUS FOR AUTOSOMAL-DOMINANT FAMILIAL SPASTIC PARAPLEGIA TO CHROMOSOME 2P, Human molecular genetics, 3(9), 1994, pp. 1569-1573

Authors: SMITH MJ GOODFELLOW PN
Citation: Mj. Smith et Pn. Goodfellow, MIC2R - A TRANSCRIBED MIC2-RELATED SEQUENCE ASSOCIATED WITH A CPG ISLAND IN THE HUMAN PSEUDOAUTOSOMAL REGION, Human molecular genetics, 3(9), 1994, pp. 1575-1582

Authors: BOON LM MULLIKEN JB VIKKULA M WATKINS H SEIDMAN J OLSEN BR WARMAN ML
Citation: Lm. Boon et al., ASSIGNMENT OF A LOCUS FOR DOMINANTLY INHERITED VENOUS MALFORMATIONS TO CHROMOSOME 9P, Human molecular genetics, 3(9), 1994, pp. 1583-1587

Authors: GORECKI DC DERRY JMJ BARNARD EA
Citation: Dc. Gorecki et al., DYSTROGLYCAN - BRAIN LOCALIZATION AND CHROMOSOME MAPPING IN THE MOUSE, Human molecular genetics, 3(9), 1994, pp. 1589-1597

Authors: ZHOU JH SPIER SJ BEECH J HOFFMAN EP
Citation: Jh. Zhou et al., PATHOPHYSIOLOGY OF SODIUM CHANNELOPATHIES - CORRELATION OF NORMAL MUTANT MESSENGER-RNA RATIOS WITH CLINICAL PHENOTYPE IN DOMINANTLY INHERITED PERIODIC PARALYSIS/, Human molecular genetics, 3(9), 1994, pp. 1599-1603

Authors: PAGANI F ZAGATO L MERATI G PAONE G GRIDELLI B MAIER JA
Citation: F. Pagani et al., A HISTIDINE TO TYROSINE REPLACEMENT IN LYSOSOMAL ACID LIPASE CAUSES CHOLESTERYL ESTER STORAGE DISEASE, Human molecular genetics, 3(9), 1994, pp. 1605-1609

Authors: JOHN RM ROBBINS CA MYERS RM
Citation: Rm. John et al., IDENTIFICATION OF GENES WITHIN CPG-ENRICHED DNA FROM HUMAN-CHROMOSOME4P16.3, Human molecular genetics, 3(9), 1994, pp. 1611-1616

Authors: NARCISI P RICHARDS AJ FERGUSON SD POPE FM
Citation: P. Narcisi et al., A FAMILY WITH EHLERS-DANLOS-SYNDROME TYPE-III ARTICULAR-HYPERMOBILITY-SYNDROME HAS A GLYCINE-637 TO SERINE SUBSTITUTION IN TYPE-III COLLAGEN, Human molecular genetics, 3(9), 1994, pp. 1617-1620

Authors: FORSMAN K LIND L BACKMAN B WESTERMARK E HOLMGREN G
Citation: K. Forsman et al., LOCALIZATION OF A GENE FOR AUTOSOMAL-DOMINANT AMELOGENESIS IMPERFECTA(ADAI) TO CHROMOSOME 4Q, Human molecular genetics, 3(9), 1994, pp. 1621-1625

Authors: BONTHRON DT BRADY N DONALDSON IA STEINMANN B
Citation: Dt. Bonthron et al., MOLECULAR-BASIS OF ESSENTIAL FRUCTOSURIA - MOLECULAR-CLONING AND MUTATIONAL ANALYSIS OF HUMAN KETOHEXOKINASE (FRUCTOKINASE), Human molecular genetics, 3(9), 1994, pp. 1627-1631

Authors: PRITCHARDJONES K RENSHAW J KINGUNDERWOOD L
Citation: K. Pritchardjones et al., THE WILMS-TUMOR (WT1) GENE IS MUTATED IN A SECONDARY LEUKEMIA IN A WAGR PATIENT, Human molecular genetics, 3(9), 1994, pp. 1633-1637

Authors: SANCHEZ R MEBARKI F RHEAUME E LAFLAMME N FOREST MG BEYOMARD F DAVID M MOREL Y LABRIE F SIMARD J
Citation: R. Sanchez et al., FUNCTIONAL-CHARACTERIZATION OF THE NOVEL L108W AND P186L MUTATIONS DETECTED IN THE TYPE-II 3-BETA-HYDROXYSTEROID DEHYDROGENASE GENE OF A MALE PSEUDOHERMAPHRODITE WITH CONGENITAL ADRENAL-HYPERPLASIA, Human molecular genetics, 3(9), 1994, pp. 1639-1645

Authors: PETRUKHIN K LUTSENKO S CHERNOV I ROSS BM KAPLAN JH GILLIAM TC
Citation: K. Petrukhin et al., CHARACTERIZATION OF THE WILSON-DISEASE GENE ENCODING A P-TYPE COPPER TRANSPORTING ATPASE - GENOMIC ORGANIZATION, ALTERNATIVE SPLICING, AND STRUCTURE FUNCTION PREDICTIONS/, Human molecular genetics, 3(9), 1994, pp. 1647-1656

Authors: HILLAIRE D LECLERC A FAURE S TOPALOGLU H CHIANNILKULCHAI N GUICHENEY P GRINAS L LEGOS P PHILPOT J EVANGELISTA T ROUTON MC MAYER M PELLISSIER JF ESTOURNET B BAROIS A HENTATI F FEINGOLD N BECKMANN JS DUBOWITZ V TOME FMS FARDEAU M
Citation: D. Hillaire et al., LOCALIZATION OF MEROSIN-NEGATIVE CONGENITAL MUSCULAR-DYSTROPHY TO CHROMOSOME 6Q2 BY HOMOZYGOSITY MAPPING, Human molecular genetics, 3(9), 1994, pp. 1657-1661

Authors: BONALDO MD YU MT JELENC P BROWN S SU L LAWTON L DEAVEN L EFSTRATIADIS A WARBURTON D SOARES MB
Citation: Md. Bonaldo et al., SELECTION OF CDNAS USING CHROMOSOME-SPECIFIC GENOMIC CLONES - APPLICATION TO HUMAN-CHROMOSOME-13, Human molecular genetics, 3(9), 1994, pp. 1663-1673

Authors: BYCK S MORGAN K TYFIELD L DWORNICZAK B SCRIVER CR
Citation: S. Byck et al., EVIDENCE FOR ORIGIN, BY RECURRENT MUTATION, OF THE PHENYLALANINE-HYDROXYLASE-R408W MUTATION ON 2 HAPLOTYPES IN EUROPEAN AND QUEBEC POPULATIONS, Human molecular genetics, 3(9), 1994, pp. 1675-1677

Authors: TONIN P SEROVA O SIMARD J LENOIR G FEUNTEUN J MORGAN K LYNCH H NAROD S
Citation: P. Tonin et al., THE GENE FOR HEREDITARY BREAST-OVARIAN CANCER, BRCA1, MAPS DISTAL TO EDH17B2 IN CHROMOSOME REGION 17Q12-Q21, Human molecular genetics, 3(9), 1994, pp. 1679-1682

Authors: ORIMO H HAYASHI Z WATANABE A HIRAYAMA T HIRAYAMA T SHIMADA T
Citation: H. Orimo et al., NOVEL MISSENSE AND FRAMESHIFT MUTATIONS IN THE TISSUE-NONSPECIFIC ALKALINE-PHOSPHATASE GENE IN A JAPANESE PATIENT WITH HYPOPHOSPHATASIA, Human molecular genetics, 3(9), 1994, pp. 1683-1684
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