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Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome.
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- Molecular Syndromology, 2024, v. 15, n. 2, p. 149, doi. 10.1159/000534772
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- Article
Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot–Marie–Tooth Neuropathy CMTX3.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 9, p. 1, doi. 10.1002/mgg3.70014
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- Article
Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 3, p. 1, doi. 10.1002/mgg3.1866
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- Article
Biallelic hexokinase 1 (HK1) variants causative of non‐spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review.
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- British Journal of Haematology, 2024, v. 204, n. 5, p. 2040, doi. 10.1111/bjh.19368
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- Article
Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia.
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- British Journal of Haematology, 2019, v. 185, n. 2, p. 354, doi. 10.1111/bjh.15494
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- Article
Psychiatric symptoms in Salla disease.
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- European Child & Adolescent Psychiatry, 2023, v. 32, n. 10, p. 2043, doi. 10.1007/s00787-022-02031-5
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Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants.
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- Journal of Clinical Medicine, 2022, v. 11, n. 7, p. 1837, doi. 10.3390/jcm11071837
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- Article
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.
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- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-018-08262-y
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- Article
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
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- JAMA Neurology, 2016, v. 73, n. 7, p. 836, doi. 10.1001/jamaneurol.2016.0363
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- Article
ATM c.7570G>C is a high‐risk allele for breast cancer.
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- International Journal of Cancer, 2023, v. 152, n. 3, p. 429, doi. 10.1002/ijc.34305
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- Article
Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.
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- Clinical Genetics, 2023, v. 104, n. 6, p. 686, doi. 10.1111/cge.14416
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- Article
Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland.
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- Developmental Medicine & Child Neurology, 2021, v. 63, n. 9, p. 1066, doi. 10.1111/dmcn.14884
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- Article
Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 223, doi. 10.1002/jimd.12446
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- Article
Natural history of KBG syndrome in a large European cohort.
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- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4131, doi. 10.1093/hmg/ddac167
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- Article
Detection of PTCH1 Copy-Number Variants in Mosaic Basal Cell Nevus Syndrome.
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- Biomedicines, 2024, v. 12, n. 2, p. 330, doi. 10.3390/biomedicines12020330
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- Article
A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion.
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- Frontiers in Molecular Neuroscience, 2024, p. 1, doi. 10.3389/fnmol.2024.1372662
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- Article
De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy.
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- Human Mutation, 2015, v. 36, n. 1, p. 69, doi. 10.1002/humu.22709
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- Article
The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.
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- Neurogenetics, 2013, v. 14, n. 1, p. 53, doi. 10.1007/s10048-012-0347-4
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- Article