More articles from Western Abstracts: Genetics Concurrent Session 8:30 AM: Friday, February 3, 2006

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120 DNA HYPOMETHYLATION AND NEURONAL SURVIVAL.
A. Thaker, L. Hutnick, G. Fan

Journal of Investigative Medicine Jan 2016, 54 (1) S100; DOI: 10.2310/6650.2005.X0004.119
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118 INTRACELLULAR GLUTATHIONE LEVELS ARE LOW IN PERIPHERAL BLOOD CELLS IN PATIENTS WITH PRIMARY OR SECONDARY MITOCHONDRIAL DYSFUNCTION.
K. R. Atkuri, L. A. Herzenberg, G. M. Enns

Journal of Investigative Medicine Jan 2016, 54 (1) S100; DOI: 10.2310/6650.2005.X0004.117
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119 MUTATIONAL ANALYSIS OF PATIENTS WITH NONKETOTIC HYPERGLYCINEMIA AND THE IDENTIFICATION OF LARGE DELETIONS IN THE GLDC GENE USING A NOVEL DETECTION SYSTEM.
L. N. Puls, G. Scharer, J. L. Van Hove

Journal of Investigative Medicine Jan 2016, 54 (1) S100; DOI: 10.2310/6650.2005.X0004.118
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121 DISCORDANT MONOZYGOTIC TWINS WITH WILDERVANCK SYNDROME: A PROPOSED MODE OF INHERITANCE.
N. Vatanavicharn, J. M. Graham, K. Dawson, J. Kohlase

Journal of Investigative Medicine Jan 2016, 54 (1) S100; DOI: 10.2310/6650.2005.X0004.120
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124 ARRAY COMPARATIVE GENOME HYBRIDIZATION IDENTIFIES CHROMOSOMAL ORIGINS OF TWO MARKER CHROMOSOMES FROM 11q AND 17p: THE FIRST REPORT OF A PATIENT WITH TWO DIFFERENT MARKER CHROMOSOMES.
R. D. Clark, D. S. Demos, L. G. Shaffer

Journal of Investigative Medicine Jan 2016, 54 (1) S101; DOI: 10.2310/6650.2005.X0004.123
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117 SPLIT HAND-SPLIT FOOT MALFORMATION 3 AT 10Q24: CLINICAL AND LABORATORY DIAGNOSIS AND GENE SEARCH.
C. D. DeLozier, R. Lyle, U. Radhakrishna, C. Schwartz, S. E. Antonarakis, J. L. Blouin

Journal of Investigative Medicine Jan 2016, 54 (1) S100; DOI: 10.2310/6650.2005.X0004.116
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122 EXPANDING THE PHENOTYPE OF MOSAIC TRISOMY 20.
M. J.H. Willis, L. M. Bird, M. Dell'Aquilla, M. C. Jones

Journal of Investigative Medicine Jan 2016, 54 (1) S100; DOI: 10.2310/6650.2005.X0004.121
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115 AN INFANT WITH CONDUCTIVE DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, DEVELOPMENTAL DELAY, AND DYSMORPHISM: IS THIS DOOR SYNDROME?
M. M. Martin, A. M. Slavotinek

Journal of Investigative Medicine Jan 2016, 54 (1) S99; DOI: 10.2310/6650.2005.X0004.114
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116 A Lethal Skeletal Dysplasia Resembling Desbuquois Dysplasia.
V. K. Agarwal, K. Bui, D. Salazar, R. S. Lachman, D. R. Witt, F. Field, D. L. Rimoin, W. R. Wilcox

Journal of Investigative Medicine Jan 2016, 54 (1) S99-S100; DOI: 10.2310/6650.2005.X0004.115
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123 HRAS MUTATIONS IN COSTELLO SYNDROME: DETECTION OF ACTIVATING MUTATIONS IN CODON 12 AND CODON 13 AND LOSS OF HETEROZYGOSITY IN RHABDOMYOSARCOMA.
K. A. Rauen, A. L. Estep, W. E. Tidyman, M. A. Teitell, P. D. Cotter

Journal of Investigative Medicine Jan 2016, 54 (1) S101; DOI: 10.2310/6650.2005.X0004.122

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More articles from Western Abstracts: Genetics Concurrent Session 8:30 AM: Friday, February 3, 2006

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