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Author/Creator Tikhonova, Irina

1. Abstract 24: Two Locus Inheritance of Non-Syndromic Midline Craniosynostosis Via Rare SMAD6 and Common BMP2 Alleles. Issue 4 (April 2017)

Authors:
Timberlake, Andrew T.; Choi, Jungmin; Zaidi, Samir; Lu, Qiongshi; Nelson-Williams, Carol; Brooks, Eric D.; Bilguvar, Kaya; Tikhonova, Irina; Mane, Shrikant; Yang, Jenny F.; Sawh-Martinez, Rajendra; Persing, Sarah; Zellner, Elizabeth G.; Loring, Erin; Chuang, Carolyn; Galm, Amy; Hashim, Peter W.; ...
Journal:
Plastic and reconstructive surgery
Issue:
Volume 5:Issue 4s(2017.)supplement 4s
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Record Type:
Journal Article
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3. D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia. Issue 1 (8th October 2021)

Authors:
Werner, Kelly M.; Cox, Allison J.; Qian, Emily; Jain, Preti; Ji, Weizhen; Tikhonova, Irina; Castaldi, Christopher; Bilguvar, Kaya; Knight, James; Ferdinandusse, Sacha; Fawaz, Rima; Jiang, Yong‐Hui; Gallagher, Patrick G.; Bizzarro, Matthew; Gruen, Jeffrey R.; Bale, Allen; Zhang, Hui
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 1(2022)
Page Start:
357
Record Type:
Journal Article
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4. First report about toxic cyanobacterial bloom occurrence in Lake Sevan, Armenia. Issue 5 (2nd July 2020)

Authors:
Gevorgyan, Gor; Rinke, Karsten; Schultze, Martin; Mamyan, Armine; Kuzmin, Anton; Belykh, Olga; Sorokovikova, Ekaterina; Hayrapetyan, Armine; Hovsepyan, Anahit; Khachikyan, Termine; Aghayan, Sargis; Fedorova, Galina; Krasnopeev, Andrey; Potapov, Sergey; Tikhonova, Irina
Journal:
International review of hydrobiology
Issue:
Volume 105:Issue 5/6(2020)
Page Start:
131
Record Type:
Journal Article
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5. GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. Issue 3 (22nd September 2017)

Authors:
Yoo, Yongjin; Jung, Jane; Lee, Yoo‐Na; Lee, Youngha; Cho, Hyosuk; Na, Eunjung; Hong, JeaYeok; Kim, Eunjin; Lee, Jin Sook; Lee, Je Sang; Hong, Chansik; Park, Sang‐Yoon; Wie, Jinhong; Miller, Kathryn; Shur, Natasha; Clow, Cheryl; Ebel, Roseànne S.; DeBrosse, Suzanne D.; Henderson, Lindsay B.; Willa...
Journal:
Annals of neurology
Issue:
Volume 82:Issue 3(2017)
Page Start:
466
Record Type:
Journal Article
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6. Integrative Genomics Implicates Genetic Disruption of Prenatal Neurogenesis in Congenital Hydrocephalus. (16th November 2020)

Authors:
Panchagnula, Shreyas; Jin, Sheng C; Dong, Weilai; Kundishora, Adam; Moreno-De-Luca, Andres; Furey, Charuta G; Allocco, August A; Walker, Rebecca; Nelson-Williams, Carol; Smith, Hannah; Dunbar, Ashley; Conine, Sierra B; Lu, Qiongshi; Zen, Xue; Sierant, Michael; Knight, James; Sullivan, William; Ph...
Journal:
Neurosurgery
Issue:
Volume 67(2010)Supplement 1
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Journal Article
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