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Author/Creator Everman, David

1. Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. Issue 7 (5th June 2020)

Authors:
Wenger, Tara L.; Bly, Randall A.; Wu, Natalie; Albert, Catherine M.; Park, Julie; Shieh, Joseph; Chenbhanich, Jirat; Heike, Carrie L.; Adam, Margaret P.; Chang, Irene; Sun, Angela; Miller, Danny E.; Beck, Anita E.; Gupta, Deepti; Boos, Markus D.; Zackai, Elaine H.; Everman, David; Ganapathi, Shir...
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 7(2020)
Page Start:
1576
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. (October 2018)

Authors:
Johnston, Jennifer; van der Smagt, Jasper; Rosenfeld, Jill; Pagnamenta, Alistair; Alswaid, Abdulrahman; Baker, Eva; Blair, Edward; Borck, Guntram; Brinkmann, Julia; Craigen, William; Dung, Vu Chi; Emrick, Lisa; Everman, David; van Gassen, Koen; Gulsuner, Suleyman; Harr, Margaret; Jain, Mahim; Kue...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 10(2018)
Page Start:
1175
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Cornelia de Lange syndrome in diverse populations. Issue 2 (6th January 2019)

Authors:
Dowsett, Leah; Porras, Antonio R.; Kruszka, Paul; Davis, Brandon; Hu, Tommy; Honey, Engela; Badoe, Eben; Thong, Meow‐Keong; Leon, Eyby; Girisha, Katta M.; Shukla, Anju; Nayak, Shalini S.; Shotelersuk, Vorasuk; Megarbane, Andre; Phadke, Shubha; Sirisena, Nirmala D.; Dissanayake, Vajira H. W.; Ferr...
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 2(2019)
Page Start:
150
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Cornelia de Lange syndrome in diverse populations. Issue 2 (6th January 2019)

Authors:
Dowsett, Leah; Porras, Antonio R.; Kruszka, Paul; Davis, Brandon; Hu, Tommy; Honey, Engela; Badoe, Eben; Thong, Meow‐Keong; Leon, Eyby; Girisha, Katta M.; Shukla, Anju; Nayak, Shalini S.; Shotelersuk, Vorasuk; Megarbane, Andre; Phadke, Shubha; Sirisena, Nirmala D.; Dissanayake, Vajira H. W.; Ferr...
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 2(2019)
Page Start:
150
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗