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Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. [electronic resource] by
- Kelly, McKenna
- Park, Meredith
- Mihalek, Ivana
- Rochtus, Anne
- Gramm, Marie
- Pérez-Palma, Eduardo
- Axeen, Erika Takle
- Hung, Christina Y
- Olson, Heather
- Swanson, Lindsay
- Anselm, Irina
- Briere, Lauren C
- High, Frances A
- Sweetser, David A
- Kayani, Saima
- Snyder, Molly
- Calvert, Sophie
- Scheffer, Ingrid E
- Yang, Edward
- Waugh, Jeff L
- Lal, Dennis
- Bodamer, Olaf
- Poduri, Annapurna
Producer: 20200414
In:
Epilepsia vol. 60
Availability: No items available.
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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome. [electronic resource] by
- Palmer, Elizabeth E
- Hong, Seungbeom
- Al Zahrani, Fatema
- Hashem, Mais O
- Aleisa, Fajr A
- Jalal Ahmed, Heba M
- Kandula, Tejaswi
- Macintosh, Rebecca
- Minoche, Andre E
- Puttick, Clare
- Gayevskiy, Velimir
- Drew, Alexander P
- Cowley, Mark J
- Dinger, Marcel
- Rosenfeld, Jill A
- Xiao, Rui
- Cho, Megan T
- Yakubu, Suliat F
- Henderson, Lindsay B
- Guillen Sacoto, Maria J
- Begtrup, Amber
- Hamad, Muddathir
- Shinawi, Marwan
- Andrews, Marisa V
- Jones, Marilyn C
- Lindstrom, Kristin
- Bristol, Ruth E
- Kayani, Saima
- Snyder, Molly
- Villanueva, Marıá Mercedes
- Schteinschnaider, Angeles
- Faivre, Laurence
- Thauvin, Christel
- Vitobello, Antonio
- Roscioli, Tony
- Kirk, Edwin P
- Bye, Ann
- Merzaban, Jasmeen
- Jaremko, Łukasz
- Jaremko, Mariusz
- Sachdev, Rani K
- Alkuraya, Fowzan S
- Arold, Stefan T
Publication details: American journal of human genetics Apr 2019
In:
American journal of human genetics vol. 104
Availability: No items available.
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6.
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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome. [electronic resource] by
- Palmer, Elizabeth E
- Hong, Seungbeom
- Al Zahrani, Fatema
- Hashem, Mais O
- Aleisa, Fajr A
- Ahmed, Heba M Jalal
- Kandula, Tejaswi
- Macintosh, Rebecca
- Minoche, Andre E
- Puttick, Clare
- Gayevskiy, Velimir
- Drew, Alexander P
- Cowley, Mark J
- Dinger, Marcel
- Rosenfeld, Jill A
- Xiao, Rui
- Cho, Megan T
- Yakubu, Suliat F
- Henderson, Lindsay B
- Guillen Sacoto, Maria J
- Begtrup, Amber
- Hamad, Muddathir
- Shinawi, Marwan
- Andrews, Marisa V
- Jones, Marilyn C
- Lindstrom, Kristin
- Bristol, Ruth E
- Kayani, Saima
- Snyder, Molly
- Villanueva, María Mercedes
- Schteinschnaider, Angeles
- Faivre, Laurence
- Thauvin, Christel
- Vitobello, Antonio
- Roscioli, Tony
- Kirk, Edwin P
- Bye, Ann
- Merzaban, Jasmeen
- Jaremko, Łukasz
- Jaremko, Mariusz
- Sachdev, Rani K
- Alkuraya, Fowzan S
- Arold, Stefan T
Producer: 20191218
In:
American journal of human genetics vol. 104
Availability: No items available.
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