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A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy. [electronic resource] by
- Saldanha, Rohit G
- Balka, Katherine R
- Davidson, Sophia
- Wainstein, Brynn K
- Wong, Melanie
- Macintosh, Rebecca
- Loo, Christine K C
- Weber, Martin A
- Kamath, Vasanth
- Moghaddas, Fiona
- De Nardo, Dominic
- Gray, Paul Edgar
- Masters, Seth Lucian
Publication details: Frontiers in immunology 2018
In:
Frontiers in immunology vol. 9
Availability: No items available.
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11.
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Reversible Suppression of Lymphoproliferation and Thrombocytopenia with Rapamycin in a Patient with Common Variable Immunodeficiency. [electronic resource] by
- Deenick, Elissa K
- Morey, Adrienne
- Danta, Mark
- Emmett, Louise
- Fay, Keith
- Gracie, Gary
- Ma, Cindy S
- Macintosh, Rebecca
- Smith, Sandy A B C
- Sasson, Sarah C
- Sewell, William A
- Cowley, Mark
- Tangye, Stuart G
- Kelleher, Anthony D
- Phan, Tri G
Producer: 20190726
In:
Journal of clinical immunology vol. 38
Availability: No items available.
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12.
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Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine. [electronic resource] by
- Palmer, Elizabeth Emma
- Hayner, Jaclyn
- Sachdev, Rani
- Cardamone, Michael
- Kandula, Tejaswi
- Morris, Paula
- Dias, Kerith-Rae
- Tao, Jiang
- Miller, David
- Zhu, Ying
- Macintosh, Rebecca
- Dinger, Marcel E
- Cowley, Mark J
- Buckley, Michael F
- Roscioli, Tony
- Bye, Ann
- Kilberg, Michael S
- Kirk, Edwin P
Producer: 20160829
In:
Molecular genetics and metabolism vol. 116
Availability: No items available.
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13.
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A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy. [electronic resource] by
- Gururaj, Sushmitha
- Palmer, Elizabeth Emma
- Sheehan, Garrett D
- Kandula, Tejaswi
- Macintosh, Rebecca
- Ying, Kevin
- Morris, Paula
- Tao, Jiang
- Dias, Kerith-Rae
- Zhu, Ying
- Dinger, Marcel E
- Cowley, Mark J
- Kirk, Edwin P
- Roscioli, Tony
- Sachdev, Rani
- Duffey, Michael E
- Bye, Ann
- Bhattacharjee, Arin
Producer: 20180613
In:
Cell reports vol. 21
Availability: No items available.
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14.
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Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness. [electronic resource] by
- Palmer, Elizabeth E
- Schofield, Deborah
- Shrestha, Rupendra
- Kandula, Tejaswi
- Macintosh, Rebecca
- Lawson, John A
- Andrews, Ian
- Sampaio, Hugo
- Johnson, Alexandra M
- Farrar, Michelle A
- Cardamone, Michael
- Mowat, David
- Elakis, George
- Lo, William
- Zhu, Ying
- Ying, Kevin
- Morris, Paula
- Tao, Jiang
- Dias, Kerith-Rae
- Buckley, Michael
- Dinger, Marcel E
- Cowley, Mark J
- Roscioli, Tony
- Kirk, Edwin P
- Bye, Ann
- Sachdev, Rani K
Producer: 20180924
In:
Molecular genetics & genomic medicine vol. 6
Availability: No items available.
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15.
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Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. [electronic resource] by
- Palmer, Elizabeth E
- Jarrett, Kelsey E
- Sachdev, Rani K
- Al Zahrani, Fatema
- Hashem, Mais Omar
- Ibrahim, Niema
- Sampaio, Hugo
- Kandula, Tejaswi
- Macintosh, Rebecca
- Gupta, Rajat
- Conlon, Donna M
- Billheimer, Jeffrey T
- Rader, Daniel J
- Funato, Kouichi
- Walkey, Christopher J
- Lee, Chang Seok
- Loo, Christine
- Brammah, Susan
- Elakis, George
- Zhu, Ying
- Buckley, Michael
- Kirk, Edwin P
- Bye, Ann
- Alkuraya, Fowzan S
- Roscioli, Tony
- Lagor, William R
Producer: 20170720
In:
Human molecular genetics vol. 25
Availability: No items available.
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16.
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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. [electronic resource] by
- Gennarino, Vincenzo A
- Palmer, Elizabeth E
- McDonell, Laura M
- Wang, Li
- Adamski, Carolyn J
- Koire, Amanda
- See, Lauren
- Chen, Chun-An
- Schaaf, Christian P
- Rosenfeld, Jill A
- Panzer, Jessica A
- Moog, Ute
- Hao, Shuang
- Bye, Ann
- Kirk, Edwin P
- Stankiewicz, Pawel
- Breman, Amy M
- McBride, Arran
- Kandula, Tejaswi
- Dubbs, Holly A
- Macintosh, Rebecca
- Cardamone, Michael
- Zhu, Ying
- Ying, Kevin
- Dias, Kerith-Rae
- Cho, Megan T
- Henderson, Lindsay B
- Baskin, Berivan
- Morris, Paula
- Tao, Jiang
- Cowley, Mark J
- Dinger, Marcel E
- Roscioli, Tony
- Caluseriu, Oana
- Suchowersky, Oksana
- Sachdev, Rani K
- Lichtarge, Olivier
- Tang, Jianrong
- Boycott, Kym M
- Holder, J Lloyd
- Zoghbi, Huda Y
Producer: 20190121
In:
Cell vol. 172
Availability: No items available.
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17.
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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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18.
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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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