Found: 42
Select item for more details and to access through your institution.
A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.
- Published in:
- Clinical Genetics, 2015, v. 88, n. 1, p. E1, doi. 10.1111/cge.12605
- By:
- Publication type:
- Article
Parent-child exome sequencing identifiesa de novo truncating mutation in TCF4 in non-syndromic intellectual disability.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 2, p. 198, doi. 10.1111/j.1399-0004.2012.01890.x
- By:
- Publication type:
- Article
Role of the M<sub>3</sub> muscarinic acetylcholine receptor in β-cell function and glucose homeostasis.
- Published in:
- Diabetes, Obesity & Metabolism, 2007, v. 9, p. 158, doi. 10.1111/j.1463-1326.2007.00781.x
- By:
- Publication type:
- Article
A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders.
- Published in:
- 2012
- By:
- Publication type:
- Correction Notice
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
- Published in:
- Molecular Psychiatry, 2011, v. 16, n. 8, p. 867, doi. 10.1038/mp.2010.54
- By:
- Publication type:
- Article
A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders.
- Published in:
- 2011
- By:
- Publication type:
- Letter
A novel homozygous <italic>AP4B1</italic> mutation in two brothers with AP‐4 deficiency syndrome and ocular anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 985, doi. 10.1002/ajmg.a.38628
- By:
- Publication type:
- Article
Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2916, doi. 10.1002/ajmg.a.37669
- By:
- Publication type:
- Article
A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1225, doi. 10.1002/ajmg.a.37566
- By:
- Publication type:
- Article
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.
- Published in:
- Nature Genetics, 2013, v. 45, n. 11, p. 1300, doi. 10.1038/ng.2765
- By:
- Publication type:
- Article
Global characterization of copy number variants in epilepsy patients from whole genome sequencing.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 4, p. 1, doi. 10.1371/journal.pgen.1007285
- By:
- Publication type:
- Article
Smoking practices in Jordanian people and their impact on semen quality and hormonal levels among adult men.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Anthelmintic Effect of Date Palm Fruit: A Systematic Review.
- Published in:
- Current Topics in Nutraceutical Research, 2019, v. 17, n. 3, p. 276
- By:
- Publication type:
- Article
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0106-7
- By:
- Publication type:
- Article
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0106-7
- By:
- Publication type:
- Article
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1266, doi. 10.1038/ejhg.2014.256
- By:
- Publication type:
- Article
Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 792, doi. 10.1038/ejhg.2013.248
- By:
- Publication type:
- Article
Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 796, doi. 10.1038/ejhg.2011.271
- By:
- Publication type:
- Article
Intellectual disability without epilepsy associated with STXBP1 disruption.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 607, doi. 10.1038/ejhg.2010.183
- By:
- Publication type:
- Article
Occipital blockade for postdural puncture headache: do we harm?
- Published in:
- 2009
- By:
- Publication type:
- Journal Article
Assessment of burden and segregation profiles of CNVs in patients with epilepsy.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 7, p. 1050, doi. 10.1002/acn3.51598
- By:
- Publication type:
- Article
CNIH4 Interacts with Newly Synthesized GPCR and Controls Their Export from the Endoplasmic Reticulum.
- Published in:
- Traffic, 2014, v. 15, n. 4, p. 383, doi. 10.1111/tra.12148
- By:
- Publication type:
- Article
Outreach training model for accredited colorectal specialists in laparoscopic colorectal surgery: feasibility and evaluation of challenges.
- Published in:
- Colorectal Disease, 2015, v. 17, n. 7, p. 635, doi. 10.1111/codi.12892
- By:
- Publication type:
- Article
Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function.
- Published in:
- Nature Communications, 2016, v. 7, n. 11, p. 13340, doi. 10.1038/ncomms13340
- By:
- Publication type:
- Article
Recessive mutations in VPS13D cause childhood onset movement disorders.
- Published in:
- 2018
- By:
- Publication type:
- journal article
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
- Published in:
- Annals of Neurology, 2009, v. 65, n. 6, p. 748, doi. 10.1002/ana.21625
- By:
- Publication type:
- Article
Identification of distinct, ligand-specific structural changes in a G protein-coupled receptor.
- Published in:
- FASEB Journal, 2007, v. 21, n. 5, p. A425, doi. 10.1096/fasebj.21.5.a425-c
- By:
- Publication type:
- Article
The genetic landscape of infantile spasms.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 18, p. 4846, doi. 10.1093/hmg/ddu199
- By:
- Publication type:
- Article
Isolation and characterisation of collagen from fringescale sardinella (Sardinella fimbriata) waste materials.
- Published in:
- International Food Research Journal, 2019, v. 26, n. 1, p. 133
- By:
- Publication type:
- Article
De Novo Mutations in Moderate or Severe Intellectual Disability.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 10, p. 1, doi. 10.1371/journal.pgen.1004772
- By:
- Publication type:
- Article
Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 9, p. 1, doi. 10.1371/journal.pgen.1003815
- By:
- Publication type:
- Article
A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 2, p. 1, doi. 10.1371/journal.pgen.1001318
- By:
- Publication type:
- Article
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.
- Published in:
- Human Mutation, 2016, v. 37, n. 8, p. 786, doi. 10.1002/humu.23004
- By:
- Publication type:
- Article
A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis.
- Published in:
- Human Mutation, 2015, v. 36, n. 8, p. 753, doi. 10.1002/humu.22797
- By:
- Publication type:
- Article
De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 69, doi. 10.1002/humu.22709
- By:
- Publication type:
- Article
Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency.
- Published in:
- Human Mutation, 2013, v. 34, n. 2, p. 385, doi. 10.1002/humu.22248
- By:
- Publication type:
- Article
Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome.
- Published in:
- Human Mutation, 2013, v. 34, n. 1, p. 103, doi. 10.1002/humu.22226
- By:
- Publication type:
- Article
Mutations in the calcium-related gene IL1RAPL1 are associated with autism.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 24, p. 3965
- By:
- Publication type:
- Article
Characterization of a Novel Serotonin Receptor from Caenorhabditis elegans.
- Published in:
- Journal of Neurochemistry, 1999, v. 72, n. 4, p. 1372, doi. 10.1046/j.1471-4159.1999.721372.x
- By:
- Publication type:
- Article
Balloon-expandable stent deformation during deployment into the iliac artery: a procedural complication managed conservatively.
- Published in:
- Vascular, 2012, v. 20, n. 4, p. 233, doi. 10.1258/vasc.2011.cr0301
- By:
- Publication type:
- Article
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.
- Published in:
- International Journal of Developmental Neuroscience, 2015, v. 47, p. 119, doi. 10.1016/j.ijdevneu.2015.04.319
- By:
- Publication type:
- Article
Strategies to rescue cognitive deficits due to SYNGAP1 haploinsufficiency.
- Published in:
- International Journal of Developmental Neuroscience, 2015, v. 47, p. 46, doi. 10.1016/j.ijdevneu.2015.04.130
- By:
- Publication type:
- Article