Found: 16
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Has the COVID-19 pandemic negatively impacted children's development? An assessment of the neurodevelopment of premature babies born during the pandemic.
- Published in:
- Turkish Journal of Pediatrics, 2024, v. 66, n. 3, p. 275, doi. 10.24953/turkjpediatr.2024.4551
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- Article
VPS13D: One Family, Same Mutations, Two Phenotypes.
- Published in:
- Movement Disorders Clinical Practice, 2021, v. 8, n. 5, p. 803, doi. 10.1002/mdc3.13232
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- Article
Novel variants broaden the phenotypic spectrum of PLEKHG5‐associated neuropathies.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 4, p. 1344, doi. 10.1111/ene.14649
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- Article
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.
- Published in:
- Human Mutation, 2021, v. 42, n. 4, p. 460, doi. 10.1002/humu.24181
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- Article
Emergence of in-line swimming patterns in zebrafish pairs.
- Published in:
- Flow: Applications of Fluid Mechanics, 2021, v. 1, p. 1, doi. 10.1017/flo.2021.5
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- Article
Design of job assignment and routing policies in service logistics.
- Published in:
- Pamukkale University Journal of Engineering Sciences, 2019, v. 25, n. 9, p. 1071, doi. 10.5505/pajes.2019.84658
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- Article
Hereditary nodo-paranodopathies: genomic variants, not just autoantibodies, hit the protein.
- Published in:
- 2019
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- Publication type:
- journal article
Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1580, doi. 10.1002/ajmg.a.61198
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- Article
Giant axonal neuropathy: A differential diagnosis of consideration.
- Published in:
- Turkish Journal of Pediatrics, 2019, v. 61, n. 2, p. 275, doi. 10.24953/turkjped.2019.02.019
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- Publication type:
- Article
Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies.
- Published in:
- Human Mutation, 2018, v. 39, n. 9, p. 1284, doi. 10.1002/humu.23560
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- Publication type:
- Article
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
- Published in:
- 2017
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- Publication type:
- journal article
PRUNE1: a disease-causing gene for secondary microcephaly.
- Published in:
- 2017
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- Publication type:
- letter
Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.
- Published in:
- 2017
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- Publication type:
- letter
Occipital cortex dysgenesis with white matter changes due to mutations in Laminin α2.
- Published in:
- Turkish Journal of Pediatrics, 2017, v. 59, n. 3, p. 338, doi. 10.24953/turkjped.2017.03.018
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- Publication type:
- Article
Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis.
- Published in:
- Molecular & Cellular Pediatrics, 2016, v. 3, n. 1, p. 1, doi. 10.1186/s40348-016-0050-x
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- Publication type:
- Article
Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies.
- Published in:
- BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/3128735
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- Publication type:
- Article