Found: 45
Select item for more details and to access through your institution.
Isothermal whole genome amplification from single and small numbers of cells: a new era for preimplantation genetic diagnosis of inherited disease.
- Published in:
- Molecular Human Reproduction, 2004, v. 10, n. 10, p. 767, doi. 10.1093/molehr/gah101
- By:
- Publication type:
- Article
Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31088-8
- By:
- Publication type:
- Article
Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31088-8
- By:
- Publication type:
- Article
"Such Fire Is Love": The Bernardine Poetry of St. Robert Southwell, S.J.
- Published in:
- 2013
- By:
- Publication type:
- Literary Criticism
FOXP1 mutations cause intellectual disability and a recognizable phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3166, doi. 10.1002/ajmg.a.36174
- By:
- Publication type:
- Article
Immune Responses in Human Necatoriasis: Association between Interleukin-5 Responses and Resistance to Reinfection.
- Published in:
- Journal of Infectious Diseases, 2004, v. 190, n. 3, p. 430, doi. 10.1086/422256
- By:
- Publication type:
- Article
Tissue Cytokine Responses in Canine Visceral Leishmaniasis.
- Published in:
- Journal of Infectious Diseases, 2001, v. 183, n. 9, p. 1421, doi. 10.1086/319869
- By:
- Publication type:
- Article
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
- Published in:
- Nature Genetics, 2010, v. 42, n. 6, p. 486, doi. 10.1038/ng.588
- By:
- Publication type:
- Article
Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome.
- Published in:
- Nature Genetics, 2002, v. 32, n. 4, p. 661, doi. 10.1038/ng1040
- By:
- Publication type:
- Article
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.
- Published in:
- Nature Genetics, 2002, v. 30, n. 4, p. 441
- By:
- Publication type:
- Article
Immunotherapy with live BCG plus heat killed Leishmania induces a T helper 1-like response in American cutaneous leishmaniasis patients.
- Published in:
- Parasite Immunology, 2000, v. 22, n. 2, p. 73, doi. 10.1046/j.1365-3024.2000.00278.x
- By:
- Publication type:
- Article
Enhancing TFEB-Mediated Cellular Degradation Pathways by the mTORC1 Inhibitor Quercetin.
- Published in:
- Oxidative Medicine & Cellular Longevity, 2018, p. 1, doi. 10.1155/2018/5073420
- By:
- Publication type:
- Article
Genetic Diversity and Transmission Characteristics of Beijing Family Strains of Mycobacterium tuberculosis in Peru.
- Published in:
- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0049651
- By:
- Publication type:
- Article
A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families.
- Published in:
- Muscle & Nerve, 2009, v. 40, n. 4, p. 633, doi. 10.1002/mus.21397
- By:
- Publication type:
- Article
Mosaic maternal ancestry in the Great Lakes region of East Africa.
- Published in:
- Human Genetics, 2015, v. 134, n. 9, p. 1013, doi. 10.1007/s00439-015-1583-0
- By:
- Publication type:
- Article
Several interacting genes influence the malignant hyperthermia phenotype.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 217, doi. 10.1007/s00439-002-0864-6
- By:
- Publication type:
- Article
Missense variant contribution to USP9X-female syndrome.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00162-9
- By:
- Publication type:
- Article
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 806, doi. 10.1038/ejhg.2012.9
- By:
- Publication type:
- Article
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 544, doi. 10.1038/ejhg.2009.220
- By:
- Publication type:
- Article
Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.
- Published in:
- 2010
- By:
- Publication type:
- Correction Notice
A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 11, p. 767, doi. 10.1038/sj.ejhg.5200881
- By:
- Publication type:
- Article
Proposed new notation for In(Lu) modifying gene-another view.
- Published in:
- Transfusion, 1985, v. 25, n. 2, p. 170, doi. 10.1046/j.1537-2995.1985.25285169214.x
- By:
- Publication type:
- Article
Single Amino Acid Changes in the Ryanodine Receptor in the Human Population Have Effects In Vivo on Caenorhabditis elegans Neuro-Muscular Function.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00037
- By:
- Publication type:
- Article
Aging Effects of Caenorhabditis elegans Ryanodine Receptor Variants Corresponding to Human Myopathic Mutations.
- Published in:
- G3: Genes | Genomes | Genetics, 2017, v. 7, n. 5, p. 1451, doi. 10.1534/g3.117.040535
- By:
- Publication type:
- Article
Epilepsy and mental retardation limited to females: an under-recognized disorder.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 4, p. 918, doi. 10.1093/brain/awm338
- By:
- Publication type:
- Article
X‐linked intellectual disability: Phenotypic expression in carrier females.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 3, p. 418, doi. 10.1111/cge.13667
- By:
- Publication type:
- Article
recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 4, p. 598, doi. 10.1093/hmg/ddy371
- By:
- Publication type:
- Article
Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 15, p. 2984, doi. 10.1093/hmg/ddt155
- By:
- Publication type:
- Article
THE ‘AGE OF STATUTES’ AND ITS INTERSECTION WITH FUNDAMENTAL PRINCIPLES: AN ILLUSTRATION.
- Published in:
- Adelaide Law Review, 2019, v. 40, n. 1, p. 353
- By:
- Publication type:
- Article
Finding the Key.
- Published in:
- Montessori Life, 1999, v. 11, n. 4, p. 40
- By:
- Publication type:
- Article
Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability.
- Published in:
- Human Mutation, 2021, v. 42, n. 7, p. 835, doi. 10.1002/humu.24207
- By:
- Publication type:
- Article
Constraint and conservation of paired‐type homeodomains predicts the clinical outcome of missense variants of uncertain significance.
- Published in:
- Human Mutation, 2020, v. 41, n. 8, p. 1407, doi. 10.1002/humu.24034
- By:
- Publication type:
- Article
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.
- Published in:
- Human Mutation, 2019, v. 40, n. 11, p. 2021, doi. 10.1002/humu.23836
- By:
- Publication type:
- Article
Defects in tRNA Anticodon Loop 2′- O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1.
- Published in:
- Human Mutation, 2015, v. 36, n. 12, p. 1176, doi. 10.1002/humu.22897
- By:
- Publication type:
- Article
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
- Published in:
- Human Mutation, 2015, v. 36, n. 12, p. 1197, doi. 10.1002/humu.22901
- By:
- Publication type:
- Article
Mutations in RYR1 in malignant hyperthermia and central core disease.
- Published in:
- Human Mutation, 2006, v. 27, n. 10, p. 977, doi. 10.1002/humu.20356
- By:
- Publication type:
- Article
Susceptibility to visceral leishmaniasis in the domestic dog is associated with MHC class II polymorphism.
- Published in:
- Immunogenetics, 2003, v. 55, n. 1, p. 23, doi. 10.1007/s00251-003-0545-1
- By:
- Publication type:
- Article
Unique TCR β-subunit variable gene haplotypes in Africans.
- Published in:
- Immunogenetics, 2002, v. 53, n. 10/11, p. 884, doi. 10.1007/s00251-001-0406-8
- By:
- Publication type:
- Article
Nance–Horan syndrome protein, NHS, associates with epithelial cell junctions.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 12, p. 1972, doi. 10.1093/hmg/ddl120
- By:
- Publication type:
- Article
An Association between OXPHOS-Related Gene Expression and Malignant Hyperthermia Susceptibility in Human Skeletal Muscle Biopsies.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 6, p. 3489, doi. 10.3390/ijms25063489
- By:
- Publication type:
- Article
Comparison of Transcriptomic Changes in Survivors of Exertional Heat Illness with Malignant Hyperthermia Susceptible Patients.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 22, p. 16124, doi. 10.3390/ijms242216124
- By:
- Publication type:
- Article
RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.
- Published in:
- Human Mutation, 2002, v. 20, n. 2, p. 88, doi. 10.1002/humu.10098
- By:
- Publication type:
- Article
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-18723-y
- By:
- Publication type:
- Article
CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/1471-2350-15-5
- By:
- Publication type:
- Article