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Results 1-8 of 8 (Search time: 0.01 seconds).
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Issue Date
Title
Author(s)
2016
Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism
Hughes, J.
;
Aubert, M.
;
Heatlie, J.
;
Gardner, A.
;
Gecz, J.
;
Morgan, T.
;
Belsky, J.
;
Thomas, P.
2016
Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders
Moey, C.
;
Hinze, S.
;
Brueton, L.
;
Morton, J.
;
McMullan, D.
;
Kamien, B.
;
Barnett, C.
;
Brunetti-Pierri, N.
;
Nicholl, J.
;
Gecz, J.
;
Shoubridge, C.
2016
Biallelic SUN5 mutations cause autosomal-recessive acephalic spermatozoa syndrome
Zhu, F.
;
Wang, F.
;
Yang, X.
;
Zhang, J.
;
Wu, H.
;
Zhang, Z.
;
Zhang, Z.
;
He, X.
;
Zhou, P.
;
Wei, Z.
;
Gecz, J.
;
Cao, Y.
2016
Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?
Rigbye, K.
;
van Hasselt, P.
;
Burgess, R.
;
Damiano, J.
;
Mullen, S.
;
Petrovski, S.
;
Puranam, R.
;
van Gassen, K.
;
Gecz, J.
;
Scheffer, I.
;
McNamara, J.
;
Berkovic, S.
;
Hildebrand, M.
2016
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2
Henden, L.
;
Freytag, S.
;
Afawi, Z.
;
Baldassari, S.
;
Berkovic, S.
;
Bisulli, F.
;
Canafoglia, L.
;
Casari, G.
;
Crompton, D.
;
Depienne, C.
;
Gecz, J.
;
Guerrini, R.
;
Helbig, I.
;
Hirsch, E.
;
Keren, B.
;
Klein, K.
;
Labauge, P.
;
LeGuern, E.
;
Licchetta, L.
;
Mei, D.
;
et al.
2016
Pcdh19 loss-of-function increases neuronal migration in vitro but is dispensable for brain development in mice
Pederick, D.
;
Homan, C.
;
Jaehne, E.
;
Piltz, S.
;
Haines, B.
;
Baune, B.
;
Jolly, L.
;
Hughes, J.
;
Gecz, J.
;
Thomas, P.
2016
A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability
Kumar, R.
;
Ha, T.
;
Pham, D.
;
Shaw, M.
;
Mangelsdorf, M.
;
Friend, K.L.
;
Hobson, L.
;
Turner, G.
;
Boyle, J.
;
Field, M.
;
Hackett, A.
;
Corbett, M.
;
Gecz, J.
2016
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy
Corbett, M.A.
;
Bellows, S.T.
;
Li, M.
;
Carroll, R.
;
Micallef, S.
;
Carvill, G.L.
;
Myers, C.T.
;
Howell, K.B.
;
Maljevic, S.
;
Lerche, H.
;
Gazina, E.V.
;
Mefford, H.C.
;
Bahlo, M.
;
Berkovic, S.F.
;
Petrou, S.
;
Scheffer, I.E.
;
Gecz, J.
Discover
Author
2
Berkovic, S.
2
Hughes, J.
2
Thomas, P.
1
Afawi, Z.
1
Aubert, M.
1
Bahlo, M.
1
Baldassari, S.
1
Barnett, C.
1
Baune, B.
1
Bellows, S.T.
.
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Subject
8
Female
8
Humans
5
Pedigree
3
Child, Preschool
3
Mutation
2
Aged
2
Alleles
2
Animals
2
Child
2
Chromosomes, Human, X
.
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