Found: 36
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Developmental aspects in apple peel intestinal atresia - ocular anomalies - microcephaly syndrome.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 2, p. 133, doi. 10.1111/j.1399-0004.1997.tb02532.x
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- Article
Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly.
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- Clinical Genetics, 1993, v. 44, n. 4, p. 208, doi. 10.1111/j.1399-0004.1993.tb03881.x
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- Article
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-3
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- Article
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
- Published in:
- 2013
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- Publication type:
- journal article
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3513, doi. 10.1093/brain/awad086
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- Article
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
- Published in:
- 2022
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- Publication type:
- journal article
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 657, doi. 10.1002/ajmg.a.36944
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- 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
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- Publication type:
- Article
Cardiac surgery in a girl with trisomy 13.
- Published in:
- Cardiology in the Young, 2000, v. 10, n. 6, p. 638, doi. 10.1017/S1047951100008945
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- Article
Potassium citrate and metabolic acidosis in children with epilepsy on the ketogenic diet: a prospective controlled study.
- Published in:
- 2020
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- Publication type:
- journal article
Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration.
- Published in:
- Thyroid, 2018, v. 28, n. 11, p. 1406, doi. 10.1089/thy.2018.0595
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- Publication type:
- Article
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 58, doi. 10.1038/ejhg.2011.126
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- Publication type:
- Article
Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01024-y
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- Publication type:
- Article
X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction.
- Published in:
- 2011
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- Publication type:
- journal article
X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal–lysosomal dysfunction.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 11, p. 3369
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- Publication type:
- Article
Prevalence of psychiatric diagnoses in children with mental retardation: data from a population-based study.
- Published in:
- 2000
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- Publication type:
- journal article
Aetiology in severe and mild mental retardation: a population-based study of Norwegian children.
- Published in:
- 2000
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- Publication type:
- journal article
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.
- Published in:
- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06466-1
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- Publication type:
- Article
Microphthalmia and brain atrophy: A novel neurodegenerative disease.
- Published in:
- Annals of Neurology, 2006, v. 59, n. 4, p. 719
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- Publication type:
- Article
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5845, doi. 10.1093/hmg/ddv305
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- Publication type:
- Article
Spectrum of Neurological Phenotypes Caused by ARX Mutations.
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- Acta Neurologica Scandinavica, 2003, v. 107, n. 6, p. 432, doi. 10.1034/j.1600-0404.2003.00125_16.x
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- Article
Prevalence Estimation of Williams Syndrome.
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- Journal of Child Neurology, 2002, v. 17, n. 4, p. 269
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- Article
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
- Published in:
- Human Mutation, 2016, v. 37, n. 7, p. 711, doi. 10.1002/humu.22997
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- Article
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
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- Human Mutation, 2016, v. 37, n. 4, p. 359, doi. 10.1002/humu.22960
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- Publication type:
- Article
Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome.
- Published in:
- Genes, 2024, v. 15, n. 4, p. 500, doi. 10.3390/genes15040500
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- Publication type:
- Article
Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome.
- Published in:
- Genes, 2023, v. 14, n. 11, p. 1985, doi. 10.3390/genes14111985
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- Publication type:
- Article
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype.
- Published in:
- Genes, 2016, v. 7, n. 12, p. 108, doi. 10.3390/genes7120108
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- Publication type:
- Article
Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan.
- Published in:
- Genes, 2016, v. 7, n. 8, p. 41, doi. 10.3390/genes7080041
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- Publication type:
- Article
Intrauterine growth restriction - a population-based study of the association with academic performance and psychiatric health.
- Published in:
- Acta Paediatrica, 2014, v. 103, n. 8, p. 886, doi. 10.1111/apa.12657
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- Publication type:
- Article
Mortality in childhood progressive encephalopathy from 1985 to 2004 in Oslo, Norway: a population-based study.
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- Acta Paediatrica, 2008, v. 97, n. 1, p. 35, doi. 10.1111/j.1651-2227.2007.00579.x
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- Publication type:
- Article
Sint nikkedukke - nevrologisk syndrom i en kriminalroman.
- Published in:
- Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2021, v. 141, n. 5, p. 472
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- Article
RUTH BOSTAD.
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- Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2017, v. 137, n. 14/15, p. 1100
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- Article
Barnenevrologi for frakkelommen.
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- Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2013, n. 9, p. 991
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- Article
Reidar Melsom.
- Published in:
- Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2013, n. 5, p. 563
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- Publication type:
- Article
Aminosyrer og autisme.
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- Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2013, n. 5, p. 514
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- Publication type:
- Article
Ung jente med psykose, kognitiv svikt og kramper.
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- Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2012, n. 18, p. 2073, doi. 10.4045/tidsskr.12.0092
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- Article