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Results: 1-12 |
Results: 12
THE IDENTIFICATION OF A (CGG)(6)AGG INSERTION WITHIN THE CGG REPEAT OF THE FMR1 GENE IN ASIANS
Authors: CHEN SH SCHOOF JM BUROKER NE SCOTT CR
Citation: Sh. Chen et al., THE IDENTIFICATION OF A (CGG)(6)AGG INSERTION WITHIN THE CGG REPEAT OF THE FMR1 GENE IN ASIANS, Human genetics, 99(6), 1997, pp. 793-795
POSSIBLE MECHANISMS FOR THE EXPANSION OF TRIPLET REPEATS - SELF-COMPLEMENTARY DUPLEX AND HAIRPIN FORMATIONS
Authors: CHEN SH SCHOOF JM SCOTT CR
Citation: Sh. Chen et al., POSSIBLE MECHANISMS FOR THE EXPANSION OF TRIPLET REPEATS - SELF-COMPLEMENTARY DUPLEX AND HAIRPIN FORMATIONS, American journal of human genetics, 61(4), 1997, pp. 1784-1784
CLINICAL CORRELATES AMONG 49 FAMILIES WITH HEMOPHILIA-A AND FACTOR-VIII GENE INVERSIONS
Authors: WEINMANN AF SCHOOF JM THOMPSON AR
Citation: Af. Weinmann et al., CLINICAL CORRELATES AMONG 49 FAMILIES WITH HEMOPHILIA-A AND FACTOR-VIII GENE INVERSIONS, American journal of hematology, 51(3), 1996, pp. 192-199
HETERODUPLEX SCREENING FOR MOLECULAR DEFECTS IN FACTOR-IX GENES FROM HEMOPHILIA-B FAMILIES
Authors: CHEN SH SCHOOF JM WEINMANN AF THOMPSON AR
Citation: Sh. Chen et al., HETERODUPLEX SCREENING FOR MOLECULAR DEFECTS IN FACTOR-IX GENES FROM HEMOPHILIA-B FAMILIES, British Journal of Haematology, 89(2), 1995, pp. 409-412
CLINICAL VARIABILITY AMONG 52 FAMILIES WITH HEMOPHILIA-A DUE TO A FACTOR-VIII GENE INVERSION
Authors: WEINMANN AF SCHOOF JM THOMPSON AR
Citation: Af. Weinmann et al., CLINICAL VARIABILITY AMONG 52 FAMILIES WITH HEMOPHILIA-A DUE TO A FACTOR-VIII GENE INVERSION, Blood, 86(10), 1995, pp. 763-763
FUNCTIONAL CONSERVATION OF AMINO-ACID-RESIDUES IN FACTOR-IX - EVIDENCE FROM MISSENSE MUTATIONS IN HEMOPHILIA-B PATIENTS AND FROM COMPARISONWITH 8 MAMMALIAN-SPECIES
Authors: CHEN SH ZHANG M SCHOOF JM YU C THOMPSON AR SCOTT CR
Citation: Sh. Chen et al., FUNCTIONAL CONSERVATION OF AMINO-ACID-RESIDUES IN FACTOR-IX - EVIDENCE FROM MISSENSE MUTATIONS IN HEMOPHILIA-B PATIENTS AND FROM COMPARISONWITH 8 MAMMALIAN-SPECIES, American journal of human genetics, 57(4), 1995, pp. 1815-1815
A BROAD-SPECTRUM OF AVPR2 MUTATIONS CAUSES CONGENITAL NEPHROGENIC DIABETES-INSIPIDUS (CNDI)
Authors: WILDIN RS ANTUSH MJ SCHOOF JM GANGSAAS I SCOTT CR
Citation: Rs. Wildin et al., A BROAD-SPECTRUM OF AVPR2 MUTATIONS CAUSES CONGENITAL NEPHROGENIC DIABETES-INSIPIDUS (CNDI), Pediatric research, 35(4), 1994, pp. 10000376-10000376
HETERODUPLEX SCREENING OF FACTOR-IX (IX) GENES IN HEMOPHILIA-B FAMILIES
Authors: THOMPSON AR SCHOOF JM CHEN SH
Citation: Ar. Thompson et al., HETERODUPLEX SCREENING OF FACTOR-IX (IX) GENES IN HEMOPHILIA-B FAMILIES, Circulation, 90(4), 1994, pp. 618-618
HETERODUPLEX SCREENING OF FACTOR-IX (IX) GENES IN HEMOPHILIA-B FAMILIES
Authors: THOMPSON AR SCHOOF JM CHEN SH
Citation: Ar. Thompson et al., HETERODUPLEX SCREENING OF FACTOR-IX (IX) GENES IN HEMOPHILIA-B FAMILIES, Circulation, 90(4), 1994, pp. 618-618
HETEROGENEOUS AVPR2 GENE-MUTATIONS IN CONGENITAL NEPHROGENIC DIABETES-INSIPIDUS
Authors: WILDIN RS ANTUSH MJ BENNETT RL SCHOOF JM SCOTT CR
Citation: Rs. Wildin et al., HETEROGENEOUS AVPR2 GENE-MUTATIONS IN CONGENITAL NEPHROGENIC DIABETES-INSIPIDUS, American journal of human genetics, 55(2), 1994, pp. 266-277
5 NOVEL FACTOR-IX MUTATIONS IN UNRELATED HEMOPHILIA-B FAMILIES
Authors: CHEN SH SCHOOF JM SCOTT CR THOMPSON AR
Citation: Sh. Chen et al., 5 NOVEL FACTOR-IX MUTATIONS IN UNRELATED HEMOPHILIA-B FAMILIES, Human molecular genetics, 2(5), 1993, pp. 599-600
RECIPROCAL PRODUCTS OF INTRAGENIC UNEQUAL CROSSING-OVER IN THE AVPR2 GENE DEFINE THE MUTATION MECHANISM IN 2 PATIENTS WITH X-LINKED NEPHROGENIC DIABETES-INSIPIDUS
Authors: WILDIN RS ANTUSH MJ SCHOOF JM BENNETT RL SCOTT CR
Citation: Rs. Wildin et al., RECIPROCAL PRODUCTS OF INTRAGENIC UNEQUAL CROSSING-OVER IN THE AVPR2 GENE DEFINE THE MUTATION MECHANISM IN 2 PATIENTS WITH X-LINKED NEPHROGENIC DIABETES-INSIPIDUS, American journal of human genetics, 53(3), 1993, pp. 163-163
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