Found: 12
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Clinical and genetic characterization of PYROXD1‐related myopathy patients from Turkey.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1678, doi. 10.1002/ajmg.a.62148
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- Article
Genotype–phenotype correlation in seven motor neuron disease families with novel ALS2 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 344, doi. 10.1002/ajmg.a.61951
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- Publication type:
- Article
Mutation in CEP135 causing primary microcephaly and subcortical heterotopia.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2450, doi. 10.1002/ajmg.a.61762
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- Article
Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. 1, doi. 10.1186/s40478-019-0869-1
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- Article
A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy.
- Published in:
- 2018
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- Publication type:
- Letter
On the differential diagnosis of neuropathy in neurogenetic disorders.
- Published in:
- Medizinische Genetik, 2020, p. 243, doi. 10.1515/medgen-2020-2040
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- Article
On the differential diagnosis of neuropathy in neurogenetic disorders.
- Published in:
- Medizinische Genetik, 2020, p. 243, doi. 10.1515/medgen-2020-2040
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- Publication type:
- Article
Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene.
- Published in:
- Acta Myologica, 2018, v. 37, n. 2, p. 121
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- Publication type:
- Article
A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 169, doi. 10.1002/jimd.12454
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- Publication type:
- Article
Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0055-9
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- Article
Making sense of missense variants in TTN-related congenital myopathies.
- Published in:
- Acta Neuropathologica, 2021, v. 141, n. 3, p. 431, doi. 10.1007/s00401-020-02257-0
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- Publication type:
- Article
Genotype-phenotype correlations in ocular manifestations of Marinesco–Sjögren syndrome: Case report and literature review.
- Published in:
- European Journal of Ophthalmology, 2022, v. 32, n. 3, p. NP92, doi. 10.1177/11206721211021291
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- Publication type:
- Article