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3D Quantification of Microstructural Properties of LiNi<sub>0.5</sub>Mn<sub>0.3</sub>Co<sub>0.2</sub>O<sub>2</sub> High‐Energy Density Electrodes by X‐Ray Holographic Nano‐Tomography.
- Published in:
- Advanced Energy Materials, 2021, v. 11, n. 8, p. 1, doi. 10.1002/aenm.202003529
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- Article
Distribution of gelsolin in human testis.
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- Molecular Reproduction & Development, 1997, v. 48, n. 1, p. 63, doi. 10.1002/(SICI)1098-2795(199709)48:1<63::AID-MRD8>3.0.CO;2-N
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- Article
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1010, doi. 10.1038/ejhg.2014.230
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- Article
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
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- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 602, doi. 10.1038/ejhg.2012.230
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- Article
Familial occurrence of thymoma and autoimmune diseases with the constitutional translocation t(14;20)(q24.1;p12.3).
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- Genes, Chromosomes & Cancer, 2005, v. 44, n. 2, p. 154
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- Article
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
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- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 82, doi. 10.1038/ejhg.2012.116
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- Article
Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations.
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- European Journal of Human Genetics, 2007, v. 15, n. 4, p. 432, doi. 10.1038/sj.ejhg.5201775
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- Article
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
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- European Journal of Human Genetics, 2006, v. 14, n. 6, p. 773, doi. 10.1038/sj.ejhg.5201611
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- Article
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.
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- European Journal of Human Genetics, 2004, v. 12, n. 4, p. 279, doi. 10.1038/sj.ejhg.5201147
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- Article
A human interstitial telomere associates in vivo with specific TRF2 and TIN2 proteins.
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- European Journal of Human Genetics, 2002, v. 10, n. 2, p. 107, doi. 10.1038/sj.ejhg.5200775
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- Article
Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay.
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- Obesity (19307381), 2014, v. 22, n. 12, p. 2621, doi. 10.1002/oby.20886
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- Article
Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study.
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- Clinical Genetics, 2022, v. 102, n. 2, p. 117, doi. 10.1111/cge.14141
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- Article
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum.
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- Clinical Genetics, 2022, v. 101, n. 3, p. 307, doi. 10.1111/cge.14096
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- Article
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
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- Clinical Genetics, 2020, v. 98, n. 1, p. 43, doi. 10.1111/cge.13755
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- Article
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
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- Human Genetics, 2020, v. 139, n. 4, p. 461, doi. 10.1007/s00439-019-02102-9
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- Article
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.
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- Human Genetics, 2013, v. 132, n. 10, p. 1177, doi. 10.1007/s00439-013-1322-3
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- Article
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
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- Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 21, doi. 10.1186/1750-1172-6-21
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- Article
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 98, doi. 10.1002/ajmg.a.33785
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- Article
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 128, doi. 10.1186/s12881-014-0128-z
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- Article
3D Operando Monitoring of Lithiation Spatial Composition in NMC Cathode Electrode by X-ray Nano-CT & XANES Techniques.
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- 2022
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- Abstract
Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in the WFS1 gene.
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- Human Mutation, 2005, v. 25, n. 1, p. 99, doi. 10.1002/humu.9300
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- Article
Growth charts in DYRK1A syndrome.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 9, doi. 10.1002/ajmg.a.63412
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- Article
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 445, doi. 10.1002/ajmg.a.63041
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- Article
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 111, doi. 10.1002/ajmg.a.36807
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- Article
Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 572, doi. 10.1002/ajmg.a.35691
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- Article