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Results: 1-7 |
Results: 7
2 INDIAN SIBLINGS WITH OGUCHI-DISEASE ARE HOMOZYGOUS FOR AN ARRESTIN MUTATION ENCODING PREMATURE TERMINATION
Authors: MAW M KUMARAMANICKAVEL G KAR B JOHN S BRIDGES R DENTON M
Citation: M. Maw et al., 2 INDIAN SIBLINGS WITH OGUCHI-DISEASE ARE HOMOZYGOUS FOR AN ARRESTIN MUTATION ENCODING PREMATURE TERMINATION, Human mutation, 1998, pp. 317-319
THE EFFECT ON MITOCHONDRIAL-FUNCTION OF THE TRNA(SER(UCN)) COI A7445GMTDNA POINT MUTATION ASSOCIATED WITH MATERNALLY-INHERITED SENSORINEURAL DEAFNESS/
Authors: HYSLOP SJ JAMES AM MAW M FISCHELGHODSIAN N MURPHY MP
Citation: Sj. Hyslop et al., THE EFFECT ON MITOCHONDRIAL-FUNCTION OF THE TRNA(SER(UCN)) COI A7445GMTDNA POINT MUTATION ASSOCIATED WITH MATERNALLY-INHERITED SENSORINEURAL DEAFNESS/, Biochemistry and molecular biology international, 42(3), 1997, pp. 567-575
LINKAGE OF BLEPHAROPHIMOSIS SYNDROME IN A LARGE INDIAN PEDIGREE TO CHROMOSOME 7P
Authors: MAW M KAR B BISWAS J BISWAS P NANCARROW D BRIDGES R KUMARAMANICKAVEL G DENTON M BADRINATH SS
Citation: M. Maw et al., LINKAGE OF BLEPHAROPHIMOSIS SYNDROME IN A LARGE INDIAN PEDIGREE TO CHROMOSOME 7P, Human molecular genetics, 5(12), 1996, pp. 2049-2054
ESTABLISHMENT OF FUNCTIONAL IMPRINTING OF THE H19 GENE IN HUMAN DEVELOPING PLACENTAE
Authors: JINNO Y IKEDA Y YUN K MAW M MASUZAKI H FUKUDA H INUZUKA K FUJISHITA A OHTANI Y OKIMOTO T ISHIMARU TS NIIKAWA N
Citation: Y. Jinno et al., ESTABLISHMENT OF FUNCTIONAL IMPRINTING OF THE H19 GENE IN HUMAN DEVELOPING PLACENTAE, Nature genetics, 10(3), 1995, pp. 318-324
A HOMOZYGOUS 1-BASE PAIR DELETION IN THE ARRESTIN GENE IS A FREQUENT CAUSE OF OGUCHI DISEASE IN JAPANESE
Authors: FUCHS S NAKAZAWA M MAW M TAMAI M OGUCHI Y GAL A
Citation: S. Fuchs et al., A HOMOZYGOUS 1-BASE PAIR DELETION IN THE ARRESTIN GENE IS A FREQUENT CAUSE OF OGUCHI DISEASE IN JAPANESE, Nature genetics, 10(3), 1995, pp. 360-362
MITOCHONDRIAL MUTATION ASSOCIATED WITH NONSYNDROMIC DEAFNESS
Authors: FISCHELGHODSIAN N PREZANT TR FOURNIER P STEWART IA MAW M
Citation: N. Fischelghodsian et al., MITOCHONDRIAL MUTATION ASSOCIATED WITH NONSYNDROMIC DEAFNESS, American journal of otolaryngology, 16(6), 1995, pp. 403-408
MISSENSE RHODOPSIN MUTATION IN A FAMILY WITH RECESSIVE RP
Authors: KUMARAMANICKAVEL G MAW M DENTON MJ JOHN S SRIKUMARI CRS ORTH U OEHLMANN R GAL A
Citation: G. Kumaramanickavel et al., MISSENSE RHODOPSIN MUTATION IN A FAMILY WITH RECESSIVE RP, Nature genetics, 8(1), 1994, pp. 10-11
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