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A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping. [electronic resource] by
- Berkovic, Samuel F
- Mazarib, Aziz
- Walid, Simri
- Neufeld, Miriam Y
- Manelis, Judith
- Nevo, Yoram
- Korczyn, Amos D
- Yin, Jinggang
- Xiong, Lan
- Pandolfo, Massimo
- Mulley, John C
- Wallace, Robyn H
Producer: 20050328
In:
Brain : a journal of neurology vol. 128
Availability: No items available.
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Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+? [electronic resource] by
- Sijben, Angelique E J
- Sithinamsuwan, Pasiri
- Radhakrishnan, Ashalata
- Badawy, Radwa A B
- Dibbens, Leanne
- Mazarib, Aziz
- Lev, Dorit
- Lerman-Sagie, Tally
- Straussberg, Rachel
- Berkovic, Samuel F
- Scheffer, Ingrid E
Producer: 20090512
In:
Epilepsia vol. 50
Availability: No items available.
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A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32. [electronic resource] by
- Blumen, Sergiu C
- Bevan, Simon
- Abu-Mouch, Saif
- Negus, David
- Kahana, Michael
- Inzelberg, Rifka
- Mazarib, Aziz
- Mahamid, Ahmad
- Carasso, Ralph L
- Slor, Hanoch
- Withers, David
- Nisipeanu, Puiu
- Navon, Ruth
- Reid, Evan
Producer: 20040114
In:
Annals of neurology vol. 54
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Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. [electronic resource] by
- Heron, Sarah E
- Smith, Katherine R
- Bahlo, Melanie
- Nobili, Lino
- Kahana, Esther
- Licchetta, Laura
- Oliver, Karen L
- Mazarib, Aziz
- Afawi, Zaid
- Korczyn, Amos
- Plazzi, Giuseppe
- Petrou, Steven
- Berkovic, Samuel F
- Scheffer, Ingrid E
- Dibbens, Leanne M
Producer: 20130404
In:
Nature genetics vol. 44
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Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families. [electronic resource] by
- Marini, Carla
- Scheffer, Ingrid E
- Crossland, Kathryn M
- Grinton, Bronwyn E
- Phillips, Fiona L
- McMahon, Jacinta M
- Turner, Samantha J
- Dean, Joanne T
- Kivity, Sara
- Mazarib, Aziz
- Neufeld, Miriam Y
- Korczyn, Amos D
- Harkin, Louise A
- Dibbens, Leanne M
- Wallace, Robyn H
- Mulley, John C
- Berkovic, Samuel F
Producer: 20040528
In:
Epilepsia vol. 45
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Epilepsy and mental retardation limited to females: an under-recognized disorder. [electronic resource] by
- Scheffer, Ingrid E
- Turner, Samantha J
- Dibbens, Leanne M
- Bayly, Marta A
- Friend, Kathryn
- Hodgson, Bree
- Burrows, Linda
- Shaw, Marie
- Wei, Chen
- Ullmann, Reinhard
- Ropers, Hans-Hilger
- Szepetowski, Pierre
- Haan, Eric
- Mazarib, Aziz
- Afawi, Zaid
- Neufeld, Miriam Y
- Andrews, P Ian
- Wallace, Geoffrey
- Kivity, Sara
- Lev, Dorit
- Lerman-Sagie, Tally
- Derry, Christopher P
- Korczyn, Amos D
- Gecz, Jozef
- Mulley, John C
- Berkovic, Samuel F
Producer: 20080508
In:
Brain : a journal of neurology vol. 131
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A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. [electronic resource] by
- Bassuk, Alexander G
- Wallace, Robyn H
- Buhr, Aimee
- Buller, Andrew R
- Afawi, Zaid
- Shimojo, Masahito
- Miyata, Shingo
- Chen, Shan
- Gonzalez-Alegre, Pedro
- Griesbach, Hilary L
- Wu, Shu
- Nashelsky, Marcus
- Vladar, Eszter K
- Antic, Dragana
- Ferguson, Polly J
- Cirak, Sebahattin
- Voit, Thomas
- Scott, Matthew P
- Axelrod, Jeffrey D
- Gurnett, Christina
- Daoud, Azhar S
- Kivity, Sara
- Neufeld, Miriam Y
- Mazarib, Aziz
- Straussberg, Rachel
- Walid, Simri
- Korczyn, Amos D
- Slusarski, Diane C
- Berkovic, Samuel F
- El-Shanti, Hatem I
Producer: 20090106
In:
American journal of human genetics vol. 83
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11.
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Multiplex families with epilepsy: Success of clinical and molecular genetic characterization. [electronic resource] by
- Afawi, Zaid
- Oliver, Karen L
- Kivity, Sara
- Mazarib, Aziz
- Blatt, Ilan
- Neufeld, Miriam Y
- Helbig, Katherine L
- Goldberg-Stern, Hadassa
- Misk, Adel J
- Straussberg, Rachel
- Walid, Simri
- Mahajnah, Muhammad
- Lerman-Sagie, Tally
- Ben-Zeev, Bruria
- Kahana, Esther
- Masalha, Rafik
- Kramer, Uri
- Ekstein, Dana
- Shorer, Zamir
- Wallace, Robyn H
- Mangelsdorf, Marie
- MacPherson, James N
- Carvill, Gemma L
- Mefford, Heather C
- Jackson, Graeme D
- Scheffer, Ingrid E
- Bahlo, Melanie
- Gecz, Jozef
- Heron, Sarah E
- Corbett, Mark
- Mulley, John C
- Dibbens, Leanne M
- Korczyn, Amos D
- Berkovic, Samuel F
Producer: 20160701
In:
Neurology vol. 86
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X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. [electronic resource] by
- Dibbens, Leanne M
- Tarpey, Patrick S
- Hynes, Kim
- Bayly, Marta A
- Scheffer, Ingrid E
- Smith, Raffaella
- Bomar, Jamee
- Sutton, Edwina
- Vandeleur, Lucianne
- Shoubridge, Cheryl
- Edkins, Sarah
- Turner, Samantha J
- Stevens, Claire
- O'Meara, Sarah
- Tofts, Calli
- Barthorpe, Syd
- Buck, Gemma
- Cole, Jennifer
- Halliday, Kelly
- Jones, David
- Lee, Rebecca
- Madison, Mark
- Mironenko, Tatiana
- Varian, Jennifer
- West, Sofie
- Widaa, Sara
- Wray, Paul
- Teague, John
- Dicks, Ed
- Butler, Adam
- Menzies, Andrew
- Jenkinson, Andrew
- Shepherd, Rebecca
- Gusella, James F
- Afawi, Zaid
- Mazarib, Aziz
- Neufeld, Miriam Y
- Kivity, Sara
- Lev, Dorit
- Lerman-Sagie, Tally
- Korczyn, Amos D
- Derry, Christopher P
- Sutherland, Grant R
- Friend, Kathryn
- Shaw, Marie
- Corbett, Mark
- Kim, Hyung-Goo
- Geschwind, Daniel H
- Thomas, Paul
- Haan, Eric
- Ryan, Stephen
- McKee, Shane
- Berkovic, Samuel F
- Futreal, P Andrew
- Stratton, Michael R
- Mulley, John C
- Gécz, Jozef
Producer: 20080619
In:
Nature genetics vol. 40
Availability: No items available.
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