Search Results - "Jones, Carolyn H."

Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1‐associated Noonan syndrome: Expanding the phenotype and review of the literature by Aly, Safwat A., Boyer, Kenneth M., Muller, Brie‐Ann A., Marini, Davide, Jones, Carolyn H., Nguyen, Hoang H.

“…Background Noonan syndrome is an autosomal dominant disorder secondary to RASopathies, which are caused by germ‐line mutations in genes encoding components of…”
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Cardiology clinic patient attitudes toward and potential personal utility of genetic testing: Findings from a unique multiracial clinical sample by Erickson, Claire M., Clark, Lindsay R., Umucu, Emre, Vo, Nhi H., Volgman, Annabelle Santos, Chin, Nathaniel A., Ketchum, Fred B., Jones, Carolyn H., Gleason, Carey E., Aggarwal, Neelum T.

“…As more is understood about the hereditary nature of disease risk, the utility of genetic testing within cardiovascular medicine is increasingly being…”
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McArdle disease: a “pediatric” disorder presenting in an adult with acute kidney injury by Zhao, Xixi, Li, Angela, Soni, Madhu, Muriello, Michael J., Jones, Carolyn H., Whittier, William L.

“…Rhabdomyolysis is characterized by the acute breakdown of skeletal muscle, resulting in the release of muscle cell contents, subsequent myoglobinuria, and in…”
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How quickly do children forget events? A systematic study of children's event reports as a function of delay by Jones, Carolyn H., Pipe, Margaret-Ellen

“…Sixty‐six children aged between 5 and 7 years participated in the event, ‘Visiting the Pirate’, and were interviewed about it at one of five delays, namely, no…”
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A comparison of preschoolers' recall of experienced versus non-experienced events across multiple interviews by Powell, Martine B., Jones, Carolyn H., Campbell, Claire

“…Preschool children's recall of both experienced and non‐experienced activities was examined across three interviews. One hundred and six children aged 4 to 5…”
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Necrotizing enterocolitis in an infant with Omenn syndrome by Lynch, Megan K, Jones, Carolyn H, Gaye, Annick, Manteuffel, Kristin K D

“…Omenn syndrome (OS) is a rare disorder within the combined immunodeficiency family that is characterized by a diffuse exudative, erythematous rash,…”
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The effect of event context on children's recall of non-experienced events across multiple interviews by Jones, Carolyn H., Powell, Martine B.

“…Purpose. The current study examined whether young children's willingness to assent to, and provide details about, a false (non‐experienced) activity differs…”
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The genetics of 22q11.2 deletion syndrome by Jones, Carolyn H, Gawronski, Mary Jo

“…DiGeorge Syndrome (DGS) Velocardiofacial Syndrome (VCFS) and Shprintzen Syndrome (SS) have all been shown to be the result of the same chromosomal deletion…”
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Picture of the month. Cutis aplasia by Jones, Carolyn H, Andrews, Colleen

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