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Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 6, p. 483, doi. 10.1038/sj.ejhg.5201177
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- Article
Clinical implications of CTNNA1 germline mutations in asymptomatic carriers.
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- Gastric Cancer, 2019, v. 22, n. 4, p. 899, doi. 10.1007/s10120-018-00907-7
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- Article
Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome.
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- Clinical Genetics, 2024, v. 106, n. 1, p. 90, doi. 10.1111/cge.14515
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- Article
Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.
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- Clinical Genetics, 2021, v. 99, n. 5, p. 662, doi. 10.1111/cge.13925
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- Article
Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene.
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- Prenatal Diagnosis, 2004, v. 24, n. 5, p. 393, doi. 10.1002/pd.891
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- Article
Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition.
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- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096387
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- Article
Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.
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- Human Mutation, 2004, v. 24, n. 5, p. 417, doi. 10.1002/humu.20092
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- Article