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Risk of congenital heart defects is influenced by genetic variation in folate metabolism.
- Published in:
- Cardiology in the Young, 2013, v. 23, n. 1, p. 89, doi. 10.1017/S1047951112000431
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- Publication type:
- Article
SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.
- Published in:
- BMC Medical Genomics, 2014, v. 7, n. 1, p. 150, doi. 10.1186/s12920-014-0070-0
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- Publication type:
- Article
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.
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- BMC Medical Genomics, 2011, v. 4, n. 1, p. 25, doi. 10.1186/1755-8794-4-25
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- Publication type:
- Article
Wolcott-Rallison Syndrome.
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- Diabetes, 2004, v. 53, n. 7, p. 1876, doi. 10.2337/diabetes.53.7.1876
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- 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
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- Publication type:
- Article
Loss of Magedl results in obesity, deficits of social interactions, impaired sexual behavior and severe alteration of mature oxytocin production in the hypothalamus.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 21, p. 4703, doi. 10.1093/hmg/dds310
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- 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
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- 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
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- 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
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- 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
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- Publication type:
- Article
Sensory processing dysregulations as reliable translational biomarkers in SYNGAP1 haploinsufficiency.
- Published in:
- 2022
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- Publication type:
- journal article
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.
- Published in:
- BMC Genomics, 2009, v. 10, p. 526, doi. 10.1186/1471-2164-10-526
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- Publication type:
- Article
Syngap1 Disruption Induced by Recombination between Inverted loxP Sites Is Associated with Hippocampal Interneuron Dysfunction.
- Published in:
- eNeuro, 2023, v. 10, n. 5, p. 1, doi. 10.1523/ENEURO.0475-22.2023
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- Publication type:
- Article
3D Cohort Study: The Integrated Research Network in Perinatology of Quebec and Eastern Ontario.
- Published in:
- 2016
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- Publication type:
- journal 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
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- Publication type:
- Article
Intellectual disability without epilepsy associated with STXBP1 disruption.
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- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 607, doi. 10.1038/ejhg.2010.183
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- Publication type:
- Article
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 4, p. 360, doi. 10.1038/ng.777
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- Publication type:
- Article
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
- Published in:
- Nature Genetics, 2006, v. 38, n. 8, p. 917, doi. 10.1038/ng1845
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- 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
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- 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
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- Publication type:
- Article
Altered visual repetition suppression in Fragile X Syndrome: New evidence from ERPs and oscillatory activity.
- Published in:
- International Journal of Developmental Neuroscience, 2017, v. 59, p. 52, doi. 10.1016/j.ijdevneu.2017.03.008
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- Publication type:
- Article
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.
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- International Journal of Developmental Neuroscience, 2015, v. 47, p. 119, doi. 10.1016/j.ijdevneu.2015.04.319
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- Publication type:
- Article
Transcription regulation of anterior hypothalamic development.
- Published in:
- International Journal of Developmental Neuroscience, 2015, v. 47, p. 78, doi. 10.1016/j.ijdevneu.2015.04.215
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- 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
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- Publication type:
- Article
Alterations of visual and auditory evoked potentials in fragile X syndrome.
- Published in:
- International Journal of Developmental Neuroscience, 2014, v. 36, p. 90, doi. 10.1016/j.ijdevneu.2014.05.003
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- Publication type:
- Article
Analysis of the SIM1 Contribution to Polygenic Obesity in the French Population.
- Published in:
- Obesity (19307381), 2010, v. 18, n. 8, p. 1670, doi. 10.1038/oby.2009.468
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- Publication type:
- Article
Unraveling the role of non-coding rare variants in epilepsy.
- Published in:
- PLoS ONE, 2023, v. 18, n. 9, p. 1, doi. 10.1371/journal.pone.0291935
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- Publication type:
- 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
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- Publication type:
- Article
Auditory repetition suppression alterations in relation to cognitive functioning in fragile X syndrome: a combined EEG and machine learning approach.
- Published in:
- Journal of Neurodevelopmental Disorders, 2018, v. 10, p. 1, doi. 10.1186/s11689-018-9223-3
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- Publication type:
- Article
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
- Published in:
- Human Genetics, 2022, v. 141, n. 2, p. 257, doi. 10.1007/s00439-021-02412-x
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- Publication type:
- Article
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype.
- Published in:
- Human Genetics, 2019, v. 138, n. 11/12, p. 1301, doi. 10.1007/s00439-019-02073-x
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- Publication type:
- Article
Impact of Sim1 gene dosage on the development of the paraventricular and supraoptic nuclei of the hypothalamus.
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- European Journal of Neuroscience, 2009, v. 30, n. 12, p. 2239, doi. 10.1111/j.1460-9568.2009.07028.x
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- Publication type:
- Article
X-linked VACTERL with hydrocephalus syndrome: Further delineation of the phenotype caused by FANCB mutations.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2370, doi. 10.1002/ajmg.a.33913
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- Publication type:
- Article
Adenoviral-Mediated Modulation of Sim1 Expression in the Paraventricular Nucleus Affects Food Intake.
- Published in:
- Journal of Neuroscience, 2006, v. 26, n. 26, p. 7116, doi. 10.1523/JNEUROSCI.0672-06.2006
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- 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
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- Publication type:
- Article
Regionalization of the anterior hypothalamus in the chick embryo.
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- Developmental Dynamics, 2005, v. 233, n. 2, p. 652
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- Publication type:
- Article
LINE‐ and Alu‐containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.
- Published in:
- Human Mutation, 2018, v. 39, n. 12, p. 1916, doi. 10.1002/humu.23608
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- Publication type:
- Article
Overstressed response to EIF2S3 variants in MEHMO syndrome.
- Published in:
- 2017
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- Publication type:
- Editorial
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
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- Publication type:
- Article
Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis.
- Published in:
- Human Mutation, 2013, v. 34, n. 4, p. 667, doi. 10.1002/humu.22290
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- Publication type:
- Article
Identification of Novel Mutations Confirms Pde4d as a Major Gene Causing Acrodysostosis.
- Published in:
- Human Mutation, 2013, v. 34, n. 1, p. 97, doi. 10.1002/humu.22222
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- 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
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- Publication type:
- Article
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1114, doi. 10.1002/humu.21546
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- Publication type:
- Article
Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 14, p. 3994, doi. 10.1093/hmg/ddv137
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- Publication type:
- Article
Molecular genetics of the early development of hindbrain serotonergic neurons.
- Published in:
- Clinical Genetics, 2005, v. 68, n. 6, p. 487, doi. 10.1111/j.1399-0004.2005.00534.x
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- Publication type:
- Article
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
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- Publication type:
- Article
Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1611, doi. 10.1002/ajmg.a.38231
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- 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
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- 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
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- Publication type:
- 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
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- Publication type:
- Article