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Quantitative<sup>1</sup>HMRS and MRI Volumetry Indicate Neuronal Damage in the Hippocampus of Children with Focal Epilepsy and Infrequent Seizures.
- Published in:
- Epilepsia (Series 4), 2005, v. 46, n. 5, p. 696, doi. 10.1111/j.1528-1167.2005.30804.x
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- Publication type:
- Article
Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup).
- Published in:
- 2023
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- Publication type:
- Case Study
Natural history of alpha‐thalassemia X‐linked intellectual disability syndrome: A case report of a 45‐year‐old man.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2164, doi. 10.1002/ajmg.a.62213
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- Publication type:
- Article
Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219Arg in SLC13A5: A case report.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2671, doi. 10.1002/ajmg.a.61802
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- Publication type:
- Article
Two middle‐aged women with the Finnish variant of muscle‐eye‐brain disease (MEB).
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2481, doi. 10.1002/ajmg.a.61369
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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
Mosaic trisomy 15 found at amniocentesis.
- Published in:
- Prenatal Diagnosis, 1992, v. 12, n. 6, p. 551, doi. 10.1002/pd.1970120617
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- Publication type:
- Article
Long CAG repeats in the AR gene are not associated with infertility in Finnish males.
- Published in:
- Acta Obstetricia et Gynecologica Scandinavica, 2003, v. 82, n. 2, p. 162, doi. 10.1034/j.1600-0412.2003.00068.x
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- Publication type:
- Article
Y-chromosomal microdeletions among infertile Finnish men.
- Published in:
- Acta Obstetricia et Gynecologica Scandinavica, 2001, v. 80, n. 7, p. 652, doi. 10.1080/j.1600-0412.2001.800711.x
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- Publication type:
- Article
Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate‐induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 11, p. 2125, doi. 10.1111/epi.14568
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- Publication type:
- Article
Aneuploidy in sperm and exposure to fungicides and lifestyle factors.
- Published in:
- Environmental & Molecular Mutagenesis, 1999, v. 34, n. 1, p. 39, doi. 10.1002/(SICI)1098-2280(1999)34:1<39::AID-EM6>3.0.CO;2-F
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- Publication type:
- Article
Apoptotic response of spermatogenic cells to the germ cell mutagens etoposide, adriamycin, and diepoxybutane.
- Published in:
- Environmental & Molecular Mutagenesis, 1998, v. 31, n. 2, p. 133, doi. 10.1002/(SICI)1098-2280(1998)31:2<133::AID-EM5>3.0.CO;2-N
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- Publication type:
- Article
Germ cell mutagenicity of three metabolites of 1,3-butadiene in the rat: Induction of spermatid micronuclei by butadiene mono-, di-, and diolepoxides in vivo.
- Published in:
- Environmental & Molecular Mutagenesis, 1997, v. 29, n. 3, p. 230, doi. 10.1002/(SICI)1098-2280(1997)29:3<230::AID-EM2>3.0.CO;2-G
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- Publication type:
- Article
Effects of the DNA topoisomerase II inhibitor merbarone in male mouse meiotic divisions in vivo: Cell cycle arrest and induction of aneuploidy.
- Published in:
- Environmental & Molecular Mutagenesis, 1997, v. 29, n. 1, p. 16, doi. 10.1002/(SICI)1098-2280(1997)29:1<16::AID-EM3>3.0.CO;2-B
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- Publication type:
- Article
Effects of vinblastine and colchicine on male rat meiosis in vivo: Disturbances in spindle dynamics causing micronuclei and metaphase arrest.
- Published in:
- Environmental & Molecular Mutagenesis, 1995, v. 25, n. 2, p. 106, doi. 10.1002/em.2850250204
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- Publication type:
- Article
Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Micronuclei are induced in rat spermatids in vitro by 1,2,3,4-diepoxybutane but not by 1,2-epoxy-3-butene and 1,2-dihydroxy-3,4-epoxybutane.
- Published in:
- Mutagenesis, 1996, v. 11, n. 5, p. 525, doi. 10.1093/mutage/11.5.525
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- Publication type:
- Article
Fragmentation of centromeric DNA and prevention of homologous chromosome separation in male mouse meiosis in vivo by the topoisomerase II inhibitor etoposide.
- Published in:
- Mutagenesis, 1996, v. 11, n. 5, p. 435, doi. 10.1093/mutage/11.5.435
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- Publication type:
- Article
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations.
- Published in:
- Human Mutation, 2015, v. 36, n. 4, p. 395, doi. 10.1002/humu.22758
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- Publication type:
- Article
The TREAT- NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia.
- Published in:
- Human Mutation, 2013, v. 34, n. 11, p. 1449, doi. 10.1002/humu.22390
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- Publication type:
- Article