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Author/Creator Timms, Andrew E.

1. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. Issue 9 (5th June 2016)

Authors:
Gripp, Karen W.; Aldinger, Kimberly A.; Bennett, James T.; Baker, Laura; Tusi, Jessica; Powell‐Hamilton, Nina; Stabley, Deborah; Sol‐Church, Katia; Timms, Andrew E.; Dobyns, William B.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 9(2016)
Page Start:
2237
Record Type:
Journal Article
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3. MYT1 role in the microtia‐craniofacial microsomia spectrum. Issue 10 (1st September 2020)

Authors:
Luquetti, Daniela V.; Heike, Carrie L.; Zarante, Ignacio; Timms, Andrew E.; Gustafson, Jonas; Pachajoa, Harry; Porras‐Hurtado, Gloria L.; Ayala‐Ramirez, Paola; Duenas‐Roque, Milagros M.; Jimenez, Natalia; Ibanez, Lina M.; Hurtado‐Villa, Paula
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 10(2020)
Page Start:
n/a
Record Type:
Journal Article
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4. Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms. Issue 2 (23rd November 2017)

Authors:
Clarke, Christine M.; Fok, Vincent T.; Gustafson, Jennifer A.; Smyth, Matthew D.; Timms, Andrew E.; Frazar, Chris D.; Smith, Joshua D.; Birgfeld, Craig B.; Lee, Amy; Ellenbogen, Richard G.; Gruss, Joseph S.; Hopper, Richard A.; Cunningham, Michael L.
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 2(2018)
Page Start:
290
Record Type:
Journal Article
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5. Update on the ACTG1‐associated Baraitser–Winter cerebrofrontofacial syndrome. Issue 10 (30th May 2016)

Authors:
Di Donato, Nataliya; Kuechler, Alma; Vergano, Samantha; Heinritz, Wolfram; Bodurtha, Joann; Merchant, Sabiha R.; Breningstall, Galen; Ladda, Roger; Sell, Susan; Altmüller, Janine; Bögershausen, Nina; Timms, Andrew E.; Hackmann, Karl; Schrock, Evelin; Collins, Sarah; Olds, Carissa; Rump, Andreas; ...
Other Names:
Hennekam Raoul C.M. guestEditor.; Biesecker Leslie G. guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 10(2016)
Page Start:
2644
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗