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Author/Creator Nehrebecky, Michele

1. Cover Image, Volume 173A, Number 12, December 2017. Issue 12 (14th November 2017)

Authors:
Hardee, Isabel; Soldatos, Ariane; Davids, Mariska; Vilboux, Thierry; Toro, Camilo; David, Karen L.; Ferreira, Carlos R.; Nehrebecky, Michele; Snow, Joseph; Thurm, Audrey; Heller, Theo; Macnamara, Ellen F.; Gunay‐Aygun, Meral; Zein, Wadih M.; Gahl, William A.; Malicdan, May Christine V.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 12(2017)
Page Start:
i
Record Type:
Journal Article
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2. Defective ciliogenesis in INPP5E‐related Joubert syndrome. Issue 12 (20th October 2017)

Authors:
Hardee, Isabel; Soldatos, Ariane; Davids, Mariska; Vilboux, Thierry; Toro, Camilo; David, Karen L.; Ferreira, Carlos R.; Nehrebecky, Michele; Snow, Joseph; Thurm, Audrey; Heller, Theo; Macnamara, Ellen F.; Gunay‐Aygun, Meral; Zein, Wadih M.; Gahl, William A.; Malicdan, May Christine V.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 12(2017)
Page Start:
3231
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. Issue 10 (22nd July 2022)

Authors:
Kozycki, Christina Torres; Kodati, Shilpa; Huryn, Laryssa; Wang, Hongying; Warner, Blake M; Jani, Priyam; Hammoud, Dima; Abu-Asab, Mones S; Jittayasothorn, Yingyos; Mattapallil, Mary J; Tsai, Wanxia Li; Ullah, Ehsan; Zhou, Ping; Tian, Xiaoying; Soldatos, Ariane; Moutsopoulos, Niki; Kao-Hsieh, Mar...
Other Names:
author non-byline.; Acosta Maria T. author non-byline.; Adam Margaret author non-byline.; Adams David R. author non-byline.; Alvey Justin author non-byline.; Amendola Laura author non-byline.; Andrews Ashley author non-byline.; Ashley Euan A. author non-byline.; Azamian Mahshid S. author non-byl...
Journal:
Annals of the rheumatic diseases
Issue:
Volume 81:Issue 10(2022)
Page Start:
1453
Record Type:
Journal Article
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4. Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features. Issue 6 (22nd February 2021)

Authors:
Schwartz, Daniella Muallem; Kitakule, Moses M; Dizon, Brian LP; Gutierrez-Huerta, Cristhian; Blackstone, Sarah A; Burma, Aarohan M; Son, Aran; Deuitch, Natalie; Rosenzweig, Sofia; Komarow, Hirsh; Stone, Deborah L; Jones, Anne; Nehrebecky, Michele; Hoffmann, Patrycja; Romeo, Tina; de Jesus, Adrian...
Journal:
Annals of the rheumatic diseases
Issue:
Volume 80:Issue 6(2021)
Page Start:
788
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗