Found: 25
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Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 4, p. 639
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- Article
Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti.
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2805, doi. 10.1093/hmg/ddm237
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- Article
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 289, doi. 10.1038/ejhg.2013.113
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- Article
Extended spectrum of MBD5 mutations in neurodevelopmental disorders.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1457, doi. 10.1038/ejhg.2013.22
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- Article
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.
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- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 736, doi. 10.1038/ejhg.2012.251
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- Article
Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.
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- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1360, doi. 10.1038/ejhg.2010.126
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- Article
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.
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- European Journal of Human Genetics, 2009, v. 17, n. 10, p. 1216, doi. 10.1038/ejhg.2009.44
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- Article
Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations.
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- European Journal of Human Genetics, 2007, v. 15, n. 4, p. 432, doi. 10.1038/sj.ejhg.5201775
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- Article
Subcellular distribution of HP1 proteins is altered in ICF syndrome.
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- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 41, doi. 10.1038/sj.ejhg.5201293
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- Article
Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.
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- European Journal of Human Genetics, 2002, v. 10, n. 1, p. 86, doi. 10.1038/sj.ejhg.5200761
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- Article
Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients.
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- European Journal of Human Genetics, 1999, v. 7, n. 2, p. 131, doi. 10.1038/sj.ejhg.5200258
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- Article
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 333, doi. 10.1002/ajmg.a.34401
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- Article
Mecp2 Deficiency Disrupts Norepinephrine and Respiratory Systems in Mice.
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- Journal of Neuroscience, 2005, v. 25, n. 50, p. 11521, doi. 10.1523/JNEUROSCI.4373-05.2005
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- Article
TCF4 Deletions in Pitt-Hopkins Syndrome.
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- Human Mutation, 2008, v. 29, n. 11, p. E242, doi. 10.1002/humu.20859
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- Article
A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype.
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- Human Mutation, 2007, v. 28, n. 12, p. 1183, doi. 10.1002/humu.20611
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- Article
Truncation of NHEJ1 in a patient with polymicrogyria.
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- Human Mutation, 2007, v. 28, n. 4, p. 356, doi. 10.1002/humu.20450
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- Article
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.
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- Human Mutation, 1998, v. 12, n. 4, p. 259, doi. 10.1002/(SICI)1098-1004(1998)12:4<259::AID-HUMU7>3.0.CO;2-A
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- Article
Nine novel L1 CAM mutations in families with X-linked hydrocephalus.
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- Human Mutation, 1997, v. 9, n. 6, p. 512, doi. 10.1002/(SICI)1098-1004(1997)9:6<512::AID-HUMU3>3.0.CO;2-3
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- Article
Chromosomal localisation of the mouse and human peripherin genes.
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- Genetics Research, 1992, v. 59, n. 2, p. 125, doi. 10.1017/S0016672300030330
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- Article
Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome.
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- European Journal of Neuroscience, 2007, v. 25, n. 7, p. 1915, doi. 10.1111/j.1460-9568.2007.05466.x
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- Article
Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP.
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- Human Mutation, 2013, v. 34, n. 1, p. 88, doi. 10.1002/humu.22216
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- Article
WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1351, doi. 10.1002/ajmg.a.61177
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- Article
Whole ARX gene duplication is compatible with normal intellectual development.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2324, doi. 10.1002/ajmg.a.36564
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- Article
Recurrent mutations in the CDKL5 gene: Genotype-phenotype relationships.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1612, doi. 10.1002/ajmg.a.35401
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- Article
Cortical myoclonus in angelman syndrome.
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- Annals of Neurology, 1996, v. 40, n. 1, p. 39, doi. 10.1002/ana.410400109
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- Article