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Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism. [electronic resource] by
- Long, Philip
- May, Melanie M
- James, Victoria M
- Grannò, Simone
- Johnson, John P
- Tarpey, Patrick
- Stevenson, Roger E
- Harvey, Kirsten
- Schwartz, Charles E
- Harvey, Robert J
Producer: 20160202
In:
Frontiers in molecular neuroscience vol. 8
Availability: No items available.
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Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. [electronic resource] by
- Kalscheuer, Vera M
- James, Victoria M
- Himelright, Miranda L
- Long, Philip
- Oegema, Renske
- Jensen, Corinna
- Bienek, Melanie
- Hu, Hao
- Haas, Stefan A
- Topf, Maya
- Hoogeboom, A Jeannette M
- Harvey, Kirsten
- Walikonis, Randall
- Harvey, Robert J
Producer: 20160121
In:
Frontiers in molecular neuroscience vol. 8
Availability: No items available.
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6.
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Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease. [electronic resource] by
- James, Victoria M
- Bode, Anna
- Chung, Seo-Kyung
- Gill, Jennifer L
- Nielsen, Maartje
- Cowan, Frances M
- Vujic, Mihailo
- Thomas, Rhys H
- Rees, Mark I
- Harvey, Kirsten
- Keramidas, Angelo
- Topf, Maya
- Ginjaar, Ieke
- Lynch, Joseph W
- Harvey, Robert J
Producer: 20130805
In:
Neurobiology of disease vol. 52
Availability: No items available.
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GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. [electronic resource] by
- Lemke, Johannes R
- Hendrickx, Rik
- Geider, Kirsten
- Laube, Bodo
- Schwake, Michael
- Harvey, Robert J
- James, Victoria M
- Pepler, Alex
- Steiner, Isabelle
- Hörtnagel, Konstanze
- Neidhardt, John
- Ruf, Susanne
- Wolff, Markus
- Bartholdi, Deborah
- Caraballo, Roberto
- Platzer, Konrad
- Suls, Arvid
- De Jonghe, Peter
- Biskup, Saskia
- Weckhuysen, Sarah
Producer: 20140407
In:
Annals of neurology vol. 75
Availability: No items available.
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8.
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A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2. [electronic resource] by
- Giménez, Cecilio
- Pérez-Siles, Gonzalo
- Martínez-Villarreal, Jaime
- Arribas-González, Esther
- Jiménez, Esperanza
- Núñez, Enrique
- de Juan-Sanz, Jaime
- Fernández-Sánchez, Enrique
- García-Tardón, Noemí
- Ibáñez, Ignacio
- Romanelli, Valeria
- Nevado, Julián
- James, Victoria M
- Topf, Maya
- Chung, Seo-Kyung
- Thomas, Rhys H
- Desviat, Lourdes R
- Aragón, Carmen
- Zafra, Francisco
- Rees, Mark I
- Lapunzina, Pablo
- Harvey, Robert J
- López-Corcuera, Beatriz
Producer: 20121031
In:
The Journal of biological chemistry vol. 287
Availability: No items available.
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9.
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Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease. [electronic resource] by
- Carta, Eloisa
- Chung, Seo-Kyung
- James, Victoria M
- Robinson, Angela
- Gill, Jennifer L
- Remy, Nathalie
- Vanbellinghen, Jean-François
- Drew, Cheney J G
- Cagdas, Sophie
- Cameron, Duncan
- Cowan, Frances M
- Del Toro, Mireria
- Graham, Gail E
- Manzur, Adnan Y
- Masri, Amira
- Rivera, Serge
- Scalais, Emmanuel
- Shiang, Rita
- Sinclair, Kate
- Stuart, Catriona A
- Tijssen, Marina A J
- Wise, Grahame
- Zuberi, Sameer M
- Harvey, Kirsten
- Pearce, Brian R
- Topf, Maya
- Thomas, Rhys H
- Supplisson, Stéphane
- Rees, Mark I
- Harvey, Robert J
Producer: 20121031
In:
The Journal of biological chemistry vol. 287
Availability: No items available.
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