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Genomics studies on musical aptitude, music perception, and practice.
- Published in:
- Annals of the New York Academy of Sciences, 2018, v. 1423, n. 1, p. 82, doi. 10.1111/nyas.13620
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- Publication type:
- Article
X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 3, doi. 10.1186/1750-1172-9-49
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- Publication type:
- Article
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.
- Published in:
- 2014
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- Publication type:
- journal article
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
- Published in:
- Human Genetics, 2021, v. 140, n. 7, p. 1011, doi. 10.1007/s00439-021-02268-1
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- Publication type:
- Article
Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders.
- Published in:
- 2021
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- Publication type:
- Case Study
Association of the arginine vasopressin receptor 1A (AVPR1A) haplotypes with listening to music.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 4, p. 324, doi. 10.1038/jhg.2011.13
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- Publication type:
- Article
Association of LOXL1 gene with Finnish exfoliation syndrome patients.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 5, p. 289, doi. 10.1038/jhg.2009.28
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- Publication type:
- Article
Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 6, p. 554, doi. 10.1007/s10038-008-0284-0
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- Publication type:
- Article
A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63478
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- Publication type:
- Article
Identification of a variant associated with adult-type hypolactasia.
- Published in:
- Nature Genetics, 2002, v. 30, n. 2, p. 233, doi. 10.1038/ng826
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- Publication type:
- Article
Prenatal diagnosis of congenital nephrotic syndrome (CNF, NPHS1).
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 4, p. 323, doi. 10.1002/pd.589
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- Publication type:
- Article
Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5).
- Published in:
- 1999
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- Publication type:
- journal article
Prenatally detected paternal uniparental chromosome 13 isodisomy.
- Published in:
- Prenatal Diagnosis, 1998, v. 18, n. 11, p. 1169, doi. 10.1002/(SICI)1097-0223(199811)18:11<1169::AID-PD409>3.0.CO;2-T
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- Publication type:
- Article
DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1).
- Published in:
- 1991
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- Publication type:
- journal article
Convergent evidence for the molecular basis of musical traits.
- Published in:
- Scientific Reports, 2016, p. 39707, doi. 10.1038/srep39707
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- Publication type:
- Article
Detecting signatures of positive selection associated with musical aptitude in the human genome.
- Published in:
- Scientific Reports, 2016, p. 21198, doi. 10.1038/srep21198
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- Publication type:
- Article
The landscape of copy number variations in Finnish families with autism spectrum disorders.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2016, v. 9, n. 1, p. 9, doi. 10.1002/aur.1502
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- Publication type:
- Article
Association and Promoter Analysis of AVPR1A in Finnish Autism Families.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2015, v. 8, n. 5, p. 634, doi. 10.1002/aur.1473
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- Publication type:
- Article
Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD).
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2011, v. 4, n. 3, p. 228, doi. 10.1002/aur.187
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- Publication type:
- Article
Genome-Wide Copy Number Variation Analysis in Extended Families and Unrelated Individuals Characterized for Musical Aptitude and Creativity in Music.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0056356
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- Publication type:
- Article
Musical Aptitude Is Associated with AVPR1A-Haplotypes.
- Published in:
- PLoS ONE, 2009, v. 4, n. 5, p. 1, doi. 10.1371/journal.pone.0005534
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- Publication type:
- Article
Multifactor Effects and Evidence of Potential Interaction between Complement Factor H Y402H and LOC387715 A69S in Age-Related Macular Degeneration.
- Published in:
- PLoS ONE, 2008, v. 3, n. 12, p. 1, doi. 10.1371/journal.pone.0003833
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- Publication type:
- Article
AGTR2 mutation and mental retardation: a reply.
- Published in:
- Human Genetics, 2004, v. 114, n. 4, p. 397, doi. 10.1007/s00439-003-1077-3
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- Publication type:
- Article
Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation.
- Published in:
- Human Genetics, 2004, v. 114, n. 2, p. 211, doi. 10.1007/s00439-003-1048-8
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- Publication type:
- Article
Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-62009-y
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- Publication type:
- Article
The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1411, doi. 10.1038/ejhg.2013.60
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- Publication type:
- Article
Linkage and candidate gene studies of autism spectrum disorders in European populations.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 9, p. 1013, doi. 10.1038/ejhg.2010.69
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- Publication type:
- Article
Corrigendum to: Linkage and candidate gene studies of autism spectrum disorders in European populations.
- Published in:
- 2010
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- Publication type:
- Correction Notice
Analysis of four neuroligin genes as candidates for autism.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 12, p. 1285, doi. 10.1038/sj.ejhg.5201474
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- Publication type:
- Article
Family-based association study of DYX1C1 variants in autism.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 127, doi. 10.1038/sj.ejhg.5201272
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- Publication type:
- Article
Subjective face recognition difficulties, aberrant sensibility, sleeping disturbances and aberrant eating habits in families with Asperger syndrome.
- Published in:
- BMC Psychiatry, 2005, v. 5, p. 20, doi. 10.1186/1471-244X-5-20
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- Publication type:
- Article
Lactase persistence and ovarian carcinoma risk in Finland, Poland and Sweden.
- Published in:
- International Journal of Cancer, 2005, v. 117, n. 1, p. 90, doi. 10.1002/ijc.21130
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- Publication type:
- Article
Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish familiesMembers of the AGRE Consortium are listed in the Appendix on page 153.
- Published in:
- Annals of Neurology, 2006, v. 59, n. 1, p. 145, doi. 10.1002/ana.20722
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- Publication type:
- Article
Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort.
- Published in:
- Brain Communications, 2024, v. 6, n. 3, p. 1, doi. 10.1093/braincomms/fcae142
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- Publication type:
- Article
The genetic variant rs4073 A→T of the Interleukin-8 promoter region is associated with the earlier onset of exudative age-related macular degeneration.
- Published in:
- Acta Ophthalmologica (1755375X), 2015, v. 93, n. 8, p. 726, doi. 10.1111/aos.12799
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- Publication type:
- Article
Complement factor H Y402H polymorphism and characteristics of exudative age-related macular degeneration lesions.
- Published in:
- Acta Ophthalmologica (1755375X), 2008, v. 86, n. 4, p. 390, doi. 10.1111/j.1600-0420.2007.01050.x
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- Publication type:
- Article
Creative Activities in Music – A Genome-Wide Linkage Analysis.
- Published in:
- PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0148679
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- Publication type:
- Article
Music-performance regulates microRNAs in professional musicians.
- Published in:
- PeerJ, 2019, p. 1, doi. 10.7717/peerj.6660
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- Publication type:
- Article
Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD).
- Published in:
- 2009
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- Publication type:
- journal article
Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 23, p. 3017, doi. 10.1093/hmg/ddh321
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- Publication type:
- Article
Genomics approaches to study musical aptitude.
- Published in:
- BioEssays, 2014, v. 36, n. 11, p. 1102, doi. 10.1002/bies.201400081
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- Publication type:
- Article
Clinical and magnetic resonance imaging findings in batten disease: Analysis of the major mutation (1.02-kb deletion).
- Published in:
- Annals of Neurology, 1997, v. 42, n. 5, p. 799, doi. 10.1002/ana.410420517
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- Publication type:
- Article
Lactase persistence genotypes and malaria susceptibility in Fulani of Mali.
- Published in:
- Malaria Journal, 2011, v. 10, n. 1, p. 1, doi. 10.1186/1475-2875-10-9
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- Publication type:
- Article
Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL; CLN1).
- Published in:
- Human Mutation, 2000, v. 15, n. 3, p. 273, doi. 10.1002/(SICI)1098-1004(200003)15:3<273::AID-HUMU8>3.0.CO;2-L
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- Publication type:
- Article
Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 1, p. 85, doi. 10.1093/hmg/7.1.85
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- Publication type:
- Article
Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21.
- Published in:
- Kidney International, 2001, v. 60, n. 4, p. 1225, doi. 10.1046/j.1523-1755.2001.00931.x
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- Publication type:
- Article