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Louise Brueton

Showing results (1-10 of 19) with videos related to

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European Journal of Human Genetics : EJHG|February 16, 2012
TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotypeChirag Patel, Lee Silcock, Dominic McMullan, et al.
American Journal of Medical Genetics. Part A|April 10, 2014
Axenfeld-Rieger syndrome: further clinical and array delineation of four unrelated patients with a 4q25 microdeletionHannah Titheradge, Fiona Togneri, Dominic McMullan, et al.
European Journal of Human Genetics : EJHG|September 10, 2009
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)Tod Fullston, Louise Brueton, Tracey Willis, et al.
American Journal of Medical Genetics. Part A|April 1, 2006
Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1Wen-Qi Zeng, Hanlin Gao, Louise Brueton, et al.
American Journal of Medical Genetics|October 31, 2002
Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophyMicheala A Aldred, Salim Aftimos, Christine Hall, et al.
Pediatric Neurology|July 5, 2011
A novel GPR56 mutation causes bilateral frontoparietal polymicrogyriaRong Luo, Hye Min Yang, Zhaohui Jin, et al.
Human Reproduction (Oxford, England)|October 9, 2007
A survey of assisted reproductive technology births and imprinting disordersSarah Bowdin, Cathy Allen, Gail Kirby, et al.
European Journal of Human Genetics : EJHG|June 11, 2015
Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disordersChing Moey, Susan J Hinze, Louise Brueton, et al.
Nephron. Physiology|August 19, 2011
KCNJ10 mutations disrupt function in patients with EAST syndromeBernard Freudenthal, Duvaraka Kulaveerasingam, Lokesh Lingappa, et al.
Archives of Neurology|June 15, 2011
Neuropathy in a human without the PMP22 geneMario Andre Saporta, Istvan Katona, Xuebao Zhang, et al.
Pageof 2

Showing results (1-10 of 19) with videos related to

Sort By:
Pageof 2
European Journal of Human Genetics : EJHG|February 16, 2012
TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotypeChirag Patel, Lee Silcock, Dominic McMullan, et al.
American Journal of Medical Genetics. Part A|April 10, 2014
Axenfeld-Rieger syndrome: further clinical and array delineation of four unrelated patients with a 4q25 microdeletionHannah Titheradge, Fiona Togneri, Dominic McMullan, et al.
European Journal of Human Genetics : EJHG|September 10, 2009
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)Tod Fullston, Louise Brueton, Tracey Willis, et al.
American Journal of Medical Genetics. Part A|April 1, 2006
Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1Wen-Qi Zeng, Hanlin Gao, Louise Brueton, et al.
American Journal of Medical Genetics|October 31, 2002
Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophyMicheala A Aldred, Salim Aftimos, Christine Hall, et al.
Pediatric Neurology|July 5, 2011
A novel GPR56 mutation causes bilateral frontoparietal polymicrogyriaRong Luo, Hye Min Yang, Zhaohui Jin, et al.
Human Reproduction (Oxford, England)|October 9, 2007
A survey of assisted reproductive technology births and imprinting disordersSarah Bowdin, Cathy Allen, Gail Kirby, et al.
European Journal of Human Genetics : EJHG|June 11, 2015
Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disordersChing Moey, Susan J Hinze, Louise Brueton, et al.
Nephron. Physiology|August 19, 2011
KCNJ10 mutations disrupt function in patients with EAST syndromeBernard Freudenthal, Duvaraka Kulaveerasingam, Lokesh Lingappa, et al.
Archives of Neurology|June 15, 2011
Neuropathy in a human without the PMP22 geneMario Andre Saporta, Istvan Katona, Xuebao Zhang, et al.
Pageof 2