Found: 30
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Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing.
- Published in:
- Human Genetics, 2009, v. 126, n. 6, p. 819, doi. 10.1007/s00439-009-0735-5
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- Publication type:
- Article
Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: Analysis of 155 cases and identification of novel insertion mutation.
- Published in:
- Annals of Neurology, 1997, v. 42, n. 5, p. 803, doi. 10.1002/ana.410420518
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- Publication type:
- Article
Identification of novel <italic>L2HGDH</italic> mutation in a large consanguineous Pakistani family- a case report.
- Published in:
- BMC Medical Genetics, 2018, v. 19, p. 1, doi. 10.1186/s12881-018-0532-x
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- Publication type:
- Article
DNA methylation signatures of Alzheimer's disease neuropathology in the cortex are primarily driven by variation in non-neuronal cell-types.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33394-7
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- Publication type:
- Article
Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24.
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- European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1151, doi. 10.1038/ejhg.2008.86
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- Publication type:
- Article
Linkage and association analysis of CACNG3 in childhood absence epilepsy.
- Published in:
- 2008
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- Publication type:
- Erratum
Linkage and association analysis of CACNG3 in childhood absence epilepsy.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 4, p. 463, doi. 10.1038/sj.ejhg.5201783
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- Publication type:
- Article
Haplotype and linkage disequilibrium analysis to characterise a region in the calcium channel gene CACNA1A associated with idiopathic generalised epilepsy.
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 857, doi. 10.1038/sj.ejhg.5200896
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- Publication type:
- Article
Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 2, p. 157, doi. 10.1093/hmg/8.2.157
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- Publication type:
- Article
Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor.
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- Human Molecular Genetics, 1998, v. 7, n. 13
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- Publication type:
- Article
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
- Published in:
- 2021
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- Publication type:
- journal article
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
- Published in:
- 2017
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- Publication type:
- journal article
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
- Published in:
- 2017
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- Publication type:
- journal article
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
- Published in:
- 2015
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- Publication type:
- journal article
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.
- Published in:
- 2013
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- Publication type:
- journal article
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome.
- Published in:
- Nature Genetics, 2015, v. 47, n. 7, p. 814, doi. 10.1038/ng.3313
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- Publication type:
- Article
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.
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- Human Mutation, 2016, v. 37, n. 11, p. 1157, doi. 10.1002/humu.23060
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- Publication type:
- Article
Quantifying the proportion of different cell types in the human cortex using DNA methylation profiles.
- Published in:
- BMC Biology, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12915-024-01827-y
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- Publication type:
- Article
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.
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- PLoS Genetics, 2018, v. 14, n. 8, p. 1, doi. 10.1371/journal.pgen.1007504
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- Publication type:
- Article
Long-read transcript sequencing identifies differential isoform expression in the entorhinal cortex in a transgenic model of tau pathology.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-50486-8
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- Publication type:
- Article
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 498, doi. 10.1002/ajmg.a.62545
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- Publication type:
- Article
Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1003, doi. 10.1002/ajmg.a.36375
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- Publication type:
- Article
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0343-x
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- Publication type:
- Article
A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations.
- Published in:
- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0251-5
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- Publication type:
- Article
A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.
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- PLoS Genetics, 2021, v. 17, n. 9, p. 1, doi. 10.1371/journal.pgen.1009803
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- Publication type:
- Article
Hypomorphic PCNA mutation underlies a human DNA repair disorder.
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- Journal of Clinical Investigation, 2014, v. 124, n. 7, p. 3137, doi. 10.1172/JCI74593
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- Publication type:
- Article
SLITRK6 mutations cause myopia and deafness in humans and mice.
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- Journal of Clinical Investigation, 2013, v. 123, n. 5, p. 2094, doi. 10.1172/JCI65853
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- Publication type:
- Article
Founder Mutation(s) in the RSPH9 Gene Leading to Primary Ciliary Dyskinesia in Two Inbred Bedouin Families.
- Published in:
- Annals of Human Genetics, 2010, v. 74, n. 2, p. 117, doi. 10.1111/j.1469-1809.2009.00559.x
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- Publication type:
- Article
Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease.
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- EMBO Journal, 2013, v. 32, n. 9, p. 1225, doi. 10.1038/emboj.2013.51
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- Publication type:
- Article
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
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- PLoS Genetics, 2017, v. 13, n. 1, p. 1, doi. 10.1371/journal.pgen.1006470
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- Publication type:
- Article