检索结果 - Muriel I. Kaiser‐Kupfer

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  1. 1
    Cogan Syndrome

    Cogan Syndrome 由 Barton F. Haynes, Muriel I. Kaiser‐Kupfer, Pamela Mason, Anthony S. Fauci

    出版 1980
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  2. 2
    A 5-base insertion in the γC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract

    A 5-base insertion in the γC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract 由 Zhaoxia Ren, Anren Li, Barker S. Shastry, Padma Tirunilai, Radha Ayyagari, Mark Scott, Marshall M. Parks, Muriel I. Kaiser‐Kupfer, J. Fielding Hejtmancik

    出版 2000
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  3. 3
    Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky–Pudlak Syndrome)

    Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky–Pudlak Syndrome) 由 W. A. Gahl, Mark Brantly, Muriel I. Kaiser‐Kupfer, Fumino Iwata, Susan Hazelwood, Vorasuk Shotelersuk, L Duffy, Ernest M. Kuehl, James Troendle, Isa Bernardini

    出版 1998
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  4. 4
    Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.

    Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. 由 Larry Brody, Grant A. Mitchell, Cassandra Obie, Jacques L. Michaud, Gary Steel, G Fontaine, M.F. Robert, Ilkka Sipilä, Muriel I. Kaiser‐Kupfer, David Valle

    出版 1992
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  5. 5
    An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.

    An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina. 由 Grant A. Mitchell, Lawrence C. Brody, James E. Looney, Gary Steel, Maureen K. Suchanek, Carol E. Dowling, V Der Kaloustian, Muriel I. Kaiser‐Kupfer, David Valle

    出版 1988
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  6. 6
    At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.

    At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns. 由 Grant A. Mitchell, Lawrence C. Brody, Ilkka Sipilä, James E. Looney, C Wong, John F. Engelhardt, Achyut S. Patel, Gary Steel, Cassandra Obie, Muriel I. Kaiser‐Kupfer

    出版 1989
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  7. 7
    Use of nitisinone in patients with alkaptonuria

    Use of nitisinone in patients with alkaptonuria 由 Pim Suwannarat, Kevin O’Brien, Monique B. Perry, Nancy G. Sebring, Isa Bernardini, Muriel I. Kaiser‐Kupfer, Benjamin I. Rubin, Ekaterina Tsilou, Lynn H. Gerber, William A. Gahl

    出版 2005
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  8. 8
    Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and Other Non–Puerto Rican Patients with Hypopigmentation and Platelet Storage-Pool Deficiency

    Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and Other Non–Puerto Rican Patients with Hypopigmentation and Platelet Storage-Pool Deficiency 由 Marjan Huizing, Yair Anikster, Diana L. Fitzpatrick, Anna B. Jeong, Maria D’Souza, Melanie Rausche, Jorge R. Toro, Muriel I. Kaiser‐Kupfer, James G. White, William A. Gahl

    出版 2001
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  9. 9
    Ocular Nonnephropathic Cystinosis: Clinical, Biochemical, and Molecular Correlations

    Ocular Nonnephropathic Cystinosis: Clinical, Biochemical, and Molecular Correlations 由 Yair Anikster, Cynthia Lucero, Juanru Guo, Marjan Huizing, Vorasuk Shotelersuk, Isa Bernardini, Geraldine A. McDowell, Fumino Iwata, Muriel I. Kaiser‐Kupfer, Ronald Jaffe, Jess G. Thoene, Jerry A. Schneider, William A. Gahl

    出版 2000
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  10. 10
    Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2

    Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2 由 Anren Li, Xiaodong Jiao, Francis L. Munier, Daniel F. Schorderet, Wenliang Yao, Fumino Iwata, Mutsuko Hayakawa, Atsushi Kanai, Muh Shy Chen, Richard A. Lewis, John R. Heckenlively, Richard G. Weleber, Elias I. Traboulsi, Qingjiong Zhang, Xueshan Xiao, Muriel I. Kaiser‐Kupfer, Yuri V. Sergeev, J. Fielding Hejtmancik

    出版 2004
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