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Spectrum of Disease Severity and Phenotype in Choroideremia Carriers. [electronic resource] by
- Jauregui, Ruben
- Park, Karen Sophia
- Tanaka, Akemi J
- Cho, Ahra
- Paavo, Maarjaliis
- Zernant, Jana
- Francis, Jasmine H
- Allikmets, Rando
- Sparrow, Janet R
- Tsang, Stephen H
Producer: 20200323
In:
American journal of ophthalmology vol. 207
Availability: No items available.
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12.
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Human embryos commonly form abnormal nuclei during development: a mechanism of DNA damage, embryonic aneuploidy, and developmental arrest. [electronic resource] by
- Kort, Daniel H
- Chia, Gloryn
- Treff, Nathan R
- Tanaka, Akemi J
- Xing, Tongji
- Vensand, Lauren Bauer
- Micucci, Stephanie
- Prosser, Robert
- Lobo, Roger A
- Sauer, Mark V
- Egli, Dieter
Producer: 20161104
In:
Human reproduction (Oxford, England) vol. 31
Availability: No items available.
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13.
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De novo mutations in PURA are associated with hypotonia and developmental delay. [electronic resource] by
- Tanaka, Akemi J
- Bai, Renkui
- Cho, Megan T
- Anyane-Yeboa, Kwame
- Ahimaz, Priyanka
- Wilson, Ashley L
- Kendall, Fran
- Hay, Beverly
- Moss, Timothy
- Nardini, Monica
- Bauer, Mislen
- Retterer, Kyle
- Juusola, Jane
- Chung, Wendy K
Producer: 20160505
In:
Cold Spring Harbor molecular case studies vol. 1
Availability: No items available.
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De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features. [electronic resource] by
- Tanaka, Akemi J
- Cho, Megan T
- Retterer, Kyle
- Jones, Julie R
- Nowak, Catherine
- Douglas, Jessica
- Jiang, Yong-Hui
- McConkie-Rosell, Allyn
- Schaefer, G Bradley
- Kaylor, Julie
- Rahman, Omar A
- Telegrafi, Aida
- Friedman, Bethany
- Douglas, Ganka
- Monaghan, Kristin G
- Chung, Wendy K
Producer: 20160505
In:
Cold Spring Harbor molecular case studies vol. 2
Availability: No items available.
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15.
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De novo variants in [electronic resource] by
- Tanaka, Akemi J
- Cho, Megan T
- Willaert, Rebecca
- Retterer, Kyle
- Zarate, Yuri A
- Bosanko, Katie
- Stefans, Vikki
- Oishi, Kimihiko
- Williamson, Amy
- Wilson, Golder N
- Basinger, Alice
- Barbaro-Dieber, Tina
- Ortega, Lucia
- Sorrentino, Susanna
- Gabriel, Melissa K
- Anderson, Ilse J
- Sacoto, Maria J Guillen
- Schnur, Rhonda E
- Chung, Wendy K
Producer: 20180101
In:
Cold Spring Harbor molecular case studies vol. 3
Availability: No items available.
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16.
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Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. [electronic resource] by
- Tanaka, Akemi J
- Cho, Megan T
- Millan, Francisca
- Juusola, Jane
- Retterer, Kyle
- Joshi, Charuta
- Niyazov, Dmitriy
- Garnica, Adolfo
- Gratz, Edward
- Deardorff, Matthew
- Wilkins, Alisha
- Ortiz-Gonzalez, Xilma
- Mathews, Katherine
- Panzer, Karin
- Brilstra, Eva
- van Gassen, Koen L I
- Volker-Touw, Catharina M L
- van Binsbergen, Ellen
- Sobreira, Nara
- Hamosh, Ada
- McKnight, Dianalee
- Monaghan, Kristin G
- Chung, Wendy K
Producer: 20151208
In:
American journal of human genetics vol. 97
Availability: No items available.
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