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Journal of Medical Genetics|September 27, 2012
Mutations in TMEM231 cause Joubert syndrome in French CanadiansMyriam Srour, Fadi F Hamdan, Jeremy A Schwartzentruber, et al.Human Mutation|August 19, 2014
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndromeJeremy Schwartzentruber, Daniela Buhas, Jacek Majewski, et al.BMC Medical Genetics|December 20, 2014
Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficienciesThierry Brue, Marie-Hélène Quentien, Konstantin Khetchoumian, et al.American Journal of Human Genetics|March 20, 2012
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian populationMyriam Srour, Jeremy Schwartzentruber, Fadi F Hamdan, et al.Nature Genetics|March 2, 2011
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndromeDuane L Guernsey, Makoto Matsuoka, Haiyan Jiang, et al.American Journal of Human Genetics|July 6, 2010
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4Duane L Guernsey, Haiyan Jiang, Julie Hussin, et al.Human Mutation|November 20, 2012
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiencyMartin H Berryer, Fadi F Hamdan, Laura L Klitten, et al.American Journal of Human Genetics|October 20, 2015
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104Myriam Srour, Fadi F Hamdan, Dianalee McKnight, et al.Neuron|October 22, 2013
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathyElizabeth K Ruzzo, José-Mario Capo-Chichi, Bruria Ben-Zeev, et al.Pageof 2