Search Results - "Woerner, Audrey"

Mitochondrial Disease and Coenzyme Q10 Deficiency: Commentary by Woerner, Audrey C., Vockley, Jerry

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The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health by Woerner, Audrey C., Gallagher, Renata C., Vockley, Jerry, Adhikari, Aashish N.

“…Newborn screening (NBS) is a population-based program with a goal of reducing the burden of disease for conditions with significant clinical impact on…”
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Improvement of Unilateral Breast Hypoplasia With Oral Spironolactone in a Patient With Becker Nevus Syndrome by Chang, Li-Wei, Kazlouskaya, Viktoryia, Georgesen, Corey, Matsumoto, Martha, Ho, Jonhan, Jedrych, Jaroslaw, Karunamurthy, Arivarasan, Picarsic, Jennifer, Woerner, Audrey, Gehris, Robin

“…Becker nevus (BN) is a benign cutaneous smooth muscle hamartoma that presents with a hyperpigmented patch or plaque with or without hypertrichosis.1 BN may be…”
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Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy by Wooderchak-Donahue, Whitney, VanSant-Webb, Chad, Tvrdik, Tatiana, Plant, Parker, Lewis, Tracey, Stocks, Jennifer, Raney, Joshua A., Meyers, Lindsay, Berg, Alizabeth, Rope, Alan F., Yetman, Anji T., Bleyl, Steven B., Mesley, Rebecca, Bull, David A., Collins, R. Thomas, Ojeda, Mayra Martinez, Roberts, Amy, Lacro, Ronald, Woerner, Audrey, Stoler, Joan, Bayrak-Toydemir, Pinar

“…Aortopathy can be defined as aortic dilation, aneurysm, dissection, and tortuosity. Familial aortopathy may occur secondary to fibrillin‐1 (FBN1) mutations in…”
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Compound heterozygous loss of function variants in MYL9 in a child with megacystis–microcolon–intestinal hypoperistalsis syndrome by Kandler, Justin L., Sklirou, Evgenia, Woerner, Audrey, Walsh, Leslie, Cox, Eleina, Xue, Yuan

“…Megacystis–microcolon–intestinal hypoperistalsis syndrome (MMIHS), or “visceral myopathy,” is a severe early onset disorder characterized by impaired muscle…”
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Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome by Woerner, Audrey C, Au, Kit-Sing, Williams, Aimee T, Harris, Peter C, Northrup, Hope

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Topical Rapamycin Therapy to Alleviate the Cutaneous Manifestations of Tuberous Sclerosis Complex: A Double-Blind, Randomized, Controlled Trial to Evaluate the Safety and Efficacy of Topically Applied Rapamycin by Koenig, Mary Kay, Hebert, Adelaide A., Roberson, Joan, Samuels, Joshua, Slopis, John, Woerner, Audrey, Northrup, Hope

“…Background and Objectives Facial angiofibromas are disfiguring facial lesions, present in up to 80% of patients with tuberous sclerosis complex. Recent…”
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Mechanistic Basis of Differences in Water-Use Efficiency between a CAM and a C3Species of Peperomia (Piperaceae) by Woerner, Audrey C., Martin, Craig E.

“…Under ecologically realistic environmental conditions, the water-use efficiency (WUE) of Peperomia scandens, a CAM plant, was higher than that of the…”
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Mechanistic basis of differences in water‐use efficiency between a CAM and a C 3 species of Peperomia (Piperaceae) by WOERNER, AUDREY C., MARTIN, CRAIG E.

“…Under ecologically realistic environmental conditions, the water‐use efficiency (WUE) of Peperomia scandens , a CAM plant, was higher than that of the C 3…”
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Mechanistic basis of differences in water-use efficiency between a CAM and a C3 species of Peperomia (Piperaceae) by WOERNER, AUDREY C., MARTIN, CRAIG E.

“…Under ecologically realistic environmental conditions, the water-use efficiency (WUE) of Peperomia scandens, a CAM plant, was higher than that of the C3…”
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Birth prevalence of isolated congenital limb reduction defects in Texas 1999--2001 by Woerner, Audrey C

“…Objective. Congenital limb defects are common birth defects occurring in approximately 2-7/10,000 live births. Because congenital limb defects are pervasive…”
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Birth prevalence of isolated congenital limb reduction defects in Texas 1999–2001 by Woerner, Audrey C

“…Objective. Congenital limb defects are common birth defects occurring in approximately 2-7/10,000 live births. Because congenital limb defects are pervasive…”
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