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Author/Creator Ciccone, Carla

1. Delayed diagnosis in a house of correction: Smith–Magenis syndrome due to a de novo nonsense RAI1 variant. Issue 9 (17th June 2016)

Authors:
Yeetong, Patra; Vilboux, Thierry; Ciccone, Carla; Boulier, Kristin; Schnur, Rhonda E.; Gahl, William A.; Huizing, Marjan; Laje, Gonzalo; Smith, Ann C. M.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 9(2016)
Page Start:
2383
Record Type:
Journal Article
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2. Identification of an Alu element‐mediated deletion in the promoter region of GNE in siblings with GNE myopathy. Issue 4 (14th June 2017)

Authors:
Garland, Jennifer; Stephen, Joshi; Class, Bradley; Gruber, Angela; Ciccone, Carla; Poliak, Aaron; Hayes, Christina P.; Singhal, Vandana; Slota, Christina; Perreault, John; Gavrilova, Ralitza; Shrader, Joseph A.; Chittiboina, Prashant; Joe, Galen; Heiss, John; Gahl, William A.; Huizing, Marjan; Ca...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 5:Issue 4(2017)
Page Start:
410
Record Type:
Journal Article
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4. Noninvasive screening for congenital heart defects using a serum metabolomics approach. (13th February 2021)

Authors:
Troisi, Jacopo; Cavallo, Pierpaolo; Richards, Sean; Symes, Steven; Colucci, Angelo; Sarno, Laura; Landolfi, Annamaria; Scala, Giovanni; Adair, David; Ciccone, Carla; Maruotti, Giuseppe M.; Martinelli, Pasquale; Guida, Maurizio
Journal:
Prenatal diagnosis
Issue:
Volume 41:Number 6(2021)
Page Start:
743
Record Type:
Journal Article
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5. Quantitation of cytidine‐5′‐monophospho‐N‐acetylneuraminic acid in human leukocytes using LC–MS/MS: method development and validation. (8th January 2020)

Authors:
Fang, Meng; Xu, Xin; Zhang, Michael; Shi, Yifan; Gu, Guodong; Liu, Wanjing; Class, Bradley; Ciccone, Carla; Gahl, William A.; Huizing, Marjan; Carrillo, Nuria; Wang, Amy Q.
Journal:
Biomedical chromatography
Issue:
Volume 34:Number 2(2020)
Page Start:
n/a
Record Type:
Journal Article
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6. Sialylation of Thomsen–Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy. (June 2014)

Authors:
Leoyklang, Petcharat; Malicdan, May Christine; Yardeni, Tal; Celeste, Frank; Ciccone, Carla; Li, Xueli; Jiang, Rong; Gahl, William A; Carrillo-Carrasco, Nuria; He, Miao; Huizing, Marjan
Journal:
Biomarkers in medicine
Issue:
Volume 8:Number 5(2014)
Page Start:
641
Record Type:
Journal Article
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