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Results: 1-12 |
Results: 12
NORRIE-DISEASE GENE MUTATION IN A LARGE COSTA-RICAN KINDRED WITH A NOVEL PHENOTYPE INCLUDING VENOUS INSUFFICIENCY
Authors: REHM HL GUTIERREZESPELETA GA GARCIA R JIMENEZ G KHETARPAL U PRIEST JM SIMS KB KEATS BJB MORTON CC
Citation: Hl. Rehm et al., NORRIE-DISEASE GENE MUTATION IN A LARGE COSTA-RICAN KINDRED WITH A NOVEL PHENOTYPE INCLUDING VENOUS INSUFFICIENCY, Human mutation, 9(5), 1997, pp. 402-408
NORRIE DISEASE IN A FAMILY WITH A MANIFESTING FEMALE CARRIER
Authors: SIMS KB IRVINE AR GOOD WV
Citation: Kb. Sims et al., NORRIE DISEASE IN A FAMILY WITH A MANIFESTING FEMALE CARRIER, Archives of ophthalmology, 115(4), 1997, pp. 517-519
A PROTEIN WITH 2 IMMUNOGLOBULIN DOMAINS INTERACTS WITH THE NORRIE-DISEASE GENE-PRODUCT NORRIN
Authors: LOCKWOOD SK SIMS KB
Citation: Sk. Lockwood et Kb. Sims, A PROTEIN WITH 2 IMMUNOGLOBULIN DOMAINS INTERACTS WITH THE NORRIE-DISEASE GENE-PRODUCT NORRIN, American journal of human genetics, 61(4), 1997, pp. 903-903
STROKE IN 4 GIRLS WITH NOSOLOGICALLY OVERLAPPING MITOCHONDRIAL DISEASE
Authors: ALYAMANI S KOTHARE S DOOLING EC KRISHNAMOORTHY KS NEUMEYER A SIMS KB SCHAEFER PW
Citation: S. Alyamani et al., STROKE IN 4 GIRLS WITH NOSOLOGICALLY OVERLAPPING MITOCHONDRIAL DISEASE, Annals of neurology, 40(2), 1996, pp. 198-198
PERIPHERAL RETINOPATHY IN OFFSPRING OF CARRIERS OF NORRIE DISEASE GENE-MUTATIONS - POSSIBLE TRANSPLACENTAL EFFECT OF ABNORMAL NORRIN
Authors: MINTZHITTNER HA FERRELL RE SIMS KB FERNANDEZ KM GEMMELL BS SATRIANO DR CASTER J KRETZER FL
Citation: Ha. Mintzhittner et al., PERIPHERAL RETINOPATHY IN OFFSPRING OF CARRIERS OF NORRIE DISEASE GENE-MUTATIONS - POSSIBLE TRANSPLACENTAL EFFECT OF ABNORMAL NORRIN, Ophthalmology, 103(12), 1996, pp. 2128-2134
CLINICAL AND BIOCHEMICAL MANIFESTATIONS OF HYALURONIDASE DEFICIENCY
Authors: NATOWICZ MR SHORT MP WANG Y DICKERSIN GR GEBHARDT MC ROSENTHAL DI SIMS KB ROSENBERG AE
Citation: Mr. Natowicz et al., CLINICAL AND BIOCHEMICAL MANIFESTATIONS OF HYALURONIDASE DEFICIENCY, The New England journal of medicine, 335(14), 1996, pp. 1029-1033
MUTATIONS IN THE NORRIE DISEASE GENE
Authors: SCHUBACK DE CHEN ZY CRAIG IW BREAKEFIELD XO SIMS KB
Citation: De. Schuback et al., MUTATIONS IN THE NORRIE DISEASE GENE, Human mutation, 5(4), 1995, pp. 285-292
NORRIE GENE MUTATION IN A COSTA-RICAN KINDRED WITH A NOVEL PHENOTYPE INCLUDING PERIPHERAL VASCULAR-DISEASE
Authors: REHM H GUTIERREZESPELETA G SIMS KB GARCIA R JIMENEZ G PRIEST JM KEATS BJB MORTON CC
Citation: H. Rehm et al., NORRIE GENE MUTATION IN A COSTA-RICAN KINDRED WITH A NOVEL PHENOTYPE INCLUDING PERIPHERAL VASCULAR-DISEASE, American journal of human genetics, 57(4), 1995, pp. 1446-1446
MUTATIONAL ANALYSIS IN THE NORRIE DISEASE GENE - AN EXPANDING PHENOTYPE
Authors: SIMS KB SCHUBACK D CHEN ZY CRAIG IW BREAKEFIELD XO
Citation: Kb. Sims et al., MUTATIONAL ANALYSIS IN THE NORRIE DISEASE GENE - AN EXPANDING PHENOTYPE, Annals of neurology, 36(3), 1994, pp. 490-490
LEIGH-DISEASE DUE TO COMPLEX-I DEFICIENCY PRESENTING AS LEUKODYSTROPHY
Authors: BONNEMANN CG LERMANSAGIE T KOSOFSKY BE ROBINSON BH SOTREL A DOUGHERTY FE SIMS KB
Citation: Cg. Bonnemann et al., LEIGH-DISEASE DUE TO COMPLEX-I DEFICIENCY PRESENTING AS LEUKODYSTROPHY, Annals of neurology, 36(3), 1994, pp. 543-543
NORRIE DISEASE GENE - CHARACTERIZATION OF DELETIONS AND POSSIBLE FUNCTION
Authors: CHEN ZY BATTINELLI EM HENDRIKS RW POWELL JF MIDDLETONPRICE H SIMS KB BREAKEFIELD XO CRAIG IW
Citation: Zy. Chen et al., NORRIE DISEASE GENE - CHARACTERIZATION OF DELETIONS AND POSSIBLE FUNCTION, Genomics, 16(2), 1993, pp. 533-535
IDENTIFICATION OF MUTATIONS IN THE NORRIE DISEASE GENE AND FURTHER ELUCIDATION OF NORRIN LOCATION AND FUNCTION
Authors: SCHUBACK DE ADAMS J CHEN ZY BATTINELLI EM CRAIG I COREY DP BREAKEFIELD XO SIMS KB
Citation: De. Schuback et al., IDENTIFICATION OF MUTATIONS IN THE NORRIE DISEASE GENE AND FURTHER ELUCIDATION OF NORRIN LOCATION AND FUNCTION, American journal of human genetics, 53(3), 1993, pp. 730-730
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