Found: 24
Select item for more details and to access through your institution.
Evolutionary History of Chromosome 20.
- Published in:
- Molecular Biology & Evolution, 2005, v. 22, n. 2, p. 360
- By:
- Publication type:
- Article
Refinement of macaque synteny arrangement with respect to the official rheMac2 macaque sequence assembly.
- Published in:
- Chromosome Research, 2008, v. 16, n. 7, p. 977, doi. 10.1007/s10577-008-1255-1
- By:
- Publication type:
- Article
A single amino acid deletion in the ER Ca<sup>2+</sup> sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome–causing R304W mutation.
- Published in:
- Science Signaling, 2023, v. 16, n. 771, p. 1, doi. 10.1126/scisignal.add0509
- By:
- Publication type:
- 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
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
- Published in:
- 2022
- By:
- Publication type:
- journal 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086340
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
- Published in:
- 2013
- By:
- Publication type:
- journal article
A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0157-0
- By:
- Publication type:
- Article
The expanding clinical phenotype of germline ABL1‐associated congenital heart defects and skeletal malformations syndrome.
- Published in:
- Human Mutation, 2020, v. 41, n. 10, p. 1738, doi. 10.1002/humu.24075
- By:
- Publication type:
- Article
A Dominant STIM1 Mutation Causes Stormorken Syndrome.
- Published in:
- Human Mutation, 2014, v. 35, n. 5, p. 556, doi. 10.1002/humu.22544
- By:
- Publication type:
- Article
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 13, p. 2218, doi. 10.1093/hmg/ddaa108
- By:
- 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
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1890, doi. 10.1002/ajmg.a.37079
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Hyperphagia, Mild Developmental Delay But Apparently No Structural Brain Anomalies in a Boy Without SOX 3 Expression.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1137, doi. 10.1002/ajmg.a.35823
- By:
- Publication type:
- Article