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Author/Creator Conboy, Erin

1. A Severe Case of Congenital Thrombotic Thrombocytopenia Purpura Resulting From Compound Heterozygosity Involving a Novel ADAMTS13 Pathogenic Variant. Issue 1 (January 2018)

Authors:
Conboy, Erin; Partain, Paige I.; Warad, Deepti; Kluge, Michelle L.; Arndt, Carola; Chen, Dong; Rodriguez, Vilmarie
Journal:
Journal of pediatric hematology/oncology
Issue:
Volume 40:Issue 1(2018)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines. Issue 2 (2nd September 2015)

Authors:
Conboy, Erin; Dhamija, Radhika; Wang, Margaret; Xie, Jing; Dyck, P James; Bridges, Alina G; Spinner, Robert J; Clayton, Amy C; Watson, Robert E; Messiaen, Ludwine; Babovic-Vuksanovic, Dusica
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 2(2016)
Page Start:
123
Record Type:
Journal Article
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5. Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation. (12th April 2017)

Authors:
Conboy, Erin; Vairo, Filippo; Waggoner, Darrel; Ober, Carole; Das, Soma; Dhamija, Radhika; Klee, Eric W.; Pichurin, Pavel
Other Names:
Suri Mohnish Academic Editor.
Journal:
Case reports in genetics
Issue:
Volume 2017(2017)
Page Start:
Record Type:
Journal Article
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6. RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas. Issue 3 (10th January 2019)

Authors:
Oliver, Gavin R.; Blackburn, Patrick R.; Ellingson, Marissa S.; Conboy, Erin; Pinto e Vairo, Filippo; Webley, Matthew; Thorland, Erik; Ferber, Matthew; Van Hul, Els; van der Werf, Ilse M.; Wuyts, Wim; Babovic‐Vuksanovic, Dusica; Klee, Eric W.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 3(2019)
Page Start:
n/a
Record Type:
Journal Article
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