Found: 27
Select item for more details and to access through your institution.
An empirical exploration of the subjectivity problem of information qualities.
- Published in:
- Journal of the Association for Information Science & Technology, 2024, v. 75, n. 7, p. 829, doi. 10.1002/asi.24884
- By:
- Publication type:
- Article
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.
- Published in:
- Molecular Genetics & Genomics, 2022, v. 297, n. 6, p. 1601, doi. 10.1007/s00438-022-01945-8
- By:
- Publication type:
- Article
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01400-0
- By:
- Publication type:
- Article
Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.773177
- By:
- Publication type:
- Article
Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq.
- Published in:
- Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2021.639226
- By:
- Publication type:
- Article
Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome.
- Published in:
- British Journal of Haematology, 2021, v. 192, n. 5, p. 909, doi. 10.1111/bjh.17346
- By:
- Publication type:
- Article
In vivo RyR1 reduction in muscle triggers a core-like myopathy.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01068-4
- By:
- Publication type:
- Article
Familial deep cavitating state with a glutathione metabolism defect.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 12, p. 2573, doi. 10.1002/acn3.50933
- By:
- Publication type:
- Article
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0655-5
- By:
- Publication type:
- Article
Deletion of the microtubule-associated protein 6 (MAP6) results in skeletal muscle dysfunction.
- Published in:
- Skeletal Muscle, 2018, v. 8, n. 1, p. N.PAG, doi. 10.1186/s13395-018-0176-8
- By:
- Publication type:
- Article
“Lowe syndrome: A particularly severe phenotype without clinical kidney involvement”.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 460, doi. 10.1002/ajmg.a.38572
- By:
- Publication type:
- Article
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.
- Published in:
- Human Mutation, 2017, v. 38, n. 2, p. 152, doi. 10.1002/humu.23139
- By:
- Publication type:
- Article
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 8, p. 1559, doi. 10.1093/hmg/ddw033
- By:
- Publication type:
- Article
Exertional Heat Stroke and Susceptibility to Malignant Hyperthermia in an Athlete: Evidence for a Link?
- Published in:
- Journal of Athletic Training (Allen Press), 2015, v. 50, n. 11, p. 1212, doi. 10.4085/1062-6050-50.12.01
- By:
- Publication type:
- Article
OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 4, p. 994, doi. 10.1093/hmg/ddu514
- By:
- Publication type:
- Article
Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men.
- Published in:
- Asian Journal of Andrology, 2015, v. 17, n. 1, p. 68, doi. 10.4103/1008-682X.13644
- By:
- Publication type:
- Article
Vortex cycles at the inner edges of dead zones in protoplanetary disks.
- Published in:
- Astronomy & Astrophysics / Astronomie et Astrophysique, 2015, v. 573, p. 1, doi. 10.1051/0004-6361/201424162
- By:
- Publication type:
- Article
7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2133, doi. 10.1002/ajmg.a.36566
- By:
- Publication type:
- Article
Thermodynamics of the dead-zone inner edge in protoplanetary disks.
- Published in:
- Astronomy & Astrophysics / Astronomie et Astrophysique, 2014, v. 564, p. 1, doi. 10.1051/0004-6361/201321911
- By:
- Publication type:
- Article
Dynamics of the inner edge of the dead zone in protoplanetary disks.
- Published in:
- Proceedings of the International Astronomical Union, 2013, v. 8, n. S299, p. 157, doi. 10.1017/S1743921313008181
- By:
- Publication type:
- Article
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 8, p. 1483, doi. 10.1093/hmg/dds514
- By:
- Publication type:
- Article
Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2759, doi. 10.1093/hmg/dds104
- By:
- Publication type:
- Article
Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.
- Published in:
- Human Mutation, 2011, v. 32, n. 9, p. 995, doi. 10.1002/humu.21537
- By:
- Publication type:
- Article
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
- Published in:
- Human Mutation, 2008, v. 29, n. 5, p. 670, doi. 10.1002/humu.20696
- By:
- Publication type:
- Article
Tubulin tyrosination is a major factor affecting the recruitment of CAP-Gly proteins at microtubule plus ends.
- Published in:
- Journal of Cell Biology, 2006, v. 174, n. 6, p. 839, doi. 10.1083/jcb.200512058
- By:
- Publication type:
- Article
Endosome-to-cytosol transport of viral nucleocapsids.
- Published in:
- Nature Cell Biology, 2005, v. 7, n. 7, p. 653, doi. 10.1038/ncb1269
- By:
- Publication type:
- Article
Late endosome motility depends on lipids via the small GTPase Rab7.
- Published in:
- EMBO Journal, 2002, v. 21, n. 6, p. 1289, doi. 10.1093/emboj/21.6.1289
- By:
- Publication type:
- Article