Found: 44
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Early‐onset West syndrome with developmental delay associated with a novel KLHL20 variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63600
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- Article
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
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- Human Genetics, 2024, v. 143, n. 3, p. 437, doi. 10.1007/s00439-024-02656-3
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- Article
A Japanese patient with Teebi hypertelorism syndrome and a novel CDH11 EC1 domain variant.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 94, doi. 10.1002/ajmg.a.63386
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- Article
PHACES‐like syndrome with TMEM260 compound heterozygous variants.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2215, doi. 10.1002/ajmg.a.63245
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- Article
A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2245, doi. 10.1002/ajmg.a.63229
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- Article
Quantitative Threshold Determination of Auditory Brainstem Responses in Mouse Models.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 14, p. 11393, doi. 10.3390/ijms241411393
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- Article
A novel variant of ARPC4‐related neurodevelopmental disorder.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 893, doi. 10.1002/ajmg.a.63082
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- Article
Genomic analysis of Kabuki syndrome with multiple abnormalities in infancy.
- Published in:
- 2023
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- Publication type:
- Case Study
Mosaic RAI1 variant in a Smith–Magenis syndrome patient with total anomalous pulmonary venous return.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3130, doi. 10.1002/ajmg.a.62907
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- Article
The Fractalkine‐CX3CR1 Axis Regulates Non‐inflammatory Osteoclastogenesis by Enhancing Precursor Cell Survival.
- Published in:
- JBMR Plus, 2022, v. 6, n. 10, p. 1, doi. 10.1002/jbm4.10680
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- Article
The Fractalkine‐CX3CR1 Axis Regulates Non‐inflammatory Osteoclastogenesis by Enhancing Precursor Cell Survival.
- Published in:
- JBMR Plus, 2022, v. 6, n. 10, p. 1, doi. 10.1002/jbm4.10680
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- Publication type:
- Article
Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 3, p. 335, doi. 10.1111/cge.14103
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- Article
Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 1, p. 75, doi. 10.1159/000517977
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- Publication type:
- Article
Hypermineralization of Hearing‐Related Bones by a Specific Osteoblast Subtype.
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- Journal of Bone & Mineral Research, 2021, v. 36, n. 8, p. 1535, doi. 10.1002/jbmr.4320
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- Article
Sociability‐based fitness approach in Parkinson's disease: Comparison with conventional rehabilitation.
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- European Journal of Neurology, 2021, v. 28, n. 6, p. 1893, doi. 10.1111/ene.14798
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- Publication type:
- Article
Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2.
- Published in:
- Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00119-5
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- Article
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2333, doi. 10.1002/ajmg.a.61793
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- Article
Refinement of 16p13.3 microdeletion syndrome from a case presentation of a girl with epilepsy and intellectual disability.
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- Congenital Anomalies, 2020, v. 60, n. 2, p. 75, doi. 10.1111/cga.12347
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- Publication type:
- Article
Novel USP9X variants in two patients with X-linked intellectual disability.
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- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0081-7
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- Publication type:
- Article
A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0071-9
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- Publication type:
- Article
A Japanese patient with RAD51‐associated Fanconi anemia.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 900, doi. 10.1002/ajmg.a.61130
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- Article
A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 6, p. 713, doi. 10.1111/cge.13530
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- Publication type:
- Article
Discordant phenotype caused by CASK mutation in siblings with NF1.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0051-0
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- Publication type:
- Article
Trans-pairing between osteoclasts and osteoblasts shapes the cranial base during development.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-38471-w
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- Article
Evaluation of a patient with classical Ehlers‐Danlos syndrome due to a 9q34 duplication affecting COL5A1.
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- Congenital Anomalies, 2018, v. 58, n. 6, p. 191, doi. 10.1111/cga.12277
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- Publication type:
- Article
Effects of long-term cigarette smoke exposure on bone metabolism, structure, and quality in a mouse model of emphysema.
- Published in:
- PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0191611
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- Article
A Novel method for the simultaneous identification of methylcytosine and hydroxymethylcytosine at a single base resolution.
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- Nucleic Acids Research, 2017, v. 45, n. 4, p. 1, doi. 10.1093/nar/gkw994
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- Publication type:
- Article
Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome.
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- Clinical Case Reports, 2017, v. 5, n. 1, p. 5, doi. 10.1002/ccr3.738
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- Publication type:
- Article
Osteoprotegerin Regulates Pancreatic β-Cell Homeostasis upon Microbial Invasion.
- Published in:
- PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0146544
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- Publication type:
- Article
A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2223, doi. 10.1002/ajmg.a.37135
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- Publication type:
- Article
Delineation of the KIAA2022 mutation phenotype: Two patients with X-linked intellectual disability and distinctive features.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1349, doi. 10.1002/ajmg.a.37002
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- Publication type:
- Article
West Syndrome in a Patient With Schinzel-Giedion Syndrome.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 7, p. 932, doi. 10.1177/0883073814541468
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- Publication type:
- Article
Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 389, doi. 10.1002/ajmg.a.36813
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- Publication type:
- Article
Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2873, doi. 10.1002/ajmg.a.36704
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- Publication type:
- Article
Refinement of the deletion in 8q22.2-q22.3: The minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2104, doi. 10.1002/ajmg.a.36604
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- Publication type:
- Article
De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1550, doi. 10.1002/ajmg.a.36477
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- Publication type:
- Article
Regulation of osteoclasts by membrane-derived lipid mediators.
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- Cellular & Molecular Life Sciences, 2013, v. 70, n. 18, p. 3341, doi. 10.1007/s00018-012-1238-4
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- Publication type:
- Article
Parkin interacts with Klokin1 for mitochondrial import and maintenance of membrane potential.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 5, p. 991, doi. 10.1093/hmg/ddr530
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- Article
The effects of FK506 on refractory inflammatory myopathies.
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- Acta Neurologica Belgica, 2011, v. 111, n. 3, p. 188
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- Publication type:
- Article
Phosphorylation of Homer3 by Calcium/Calmodulin-Dependent Kinase II Regulates a Coupling State of Its Target Molecules in Purkinje Cells.
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- Journal of Neuroscience, 2008, v. 28, n. 20, p. 5369, doi. 10.1523/JNEUROSCI.4738-07.2008
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- Publication type:
- Article
Inositol 1,4,5-Trisphosphate Receptor Type 1 in Granule Cells, Not in Purkinje Cells, Regulates the Dendritic Morphology of Purkinje Cells through Brain-Derived Neurotrophic Factor Production.
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- Journal of Neuroscience, 2006, v. 26, n. 42, p. 10916, doi. 10.1523/JNEUROSCI.3269-06.2006
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- Publication type:
- Article
Three-dimensional finite-element model of the human temporomandibular joint disc during prolonged clenching.
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- European Journal of Oral Sciences, 2006, v. 114, n. 5, p. 441, doi. 10.1111/j.1600-0722.2006.00389.x
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- Publication type:
- Article
Parkin enhances mitochondrial biogenesis in proliferating cells.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 6, p. 883, doi. 10.1093/hmg/ddl006
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- Publication type:
- Article
Involvement of mitochondria in myasthenia gravis complicated with dermatomyositis and rheumatoid arthritis: a case report.
- Published in:
- Acta Neuropathologica, 2005, v. 109, n. 5, p. 539, doi. 10.1007/s00401-005-0990-z
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- Publication type:
- Article