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Difficult Airway Management: Case Studies: Ambreen Yasin, Carl Groves, Aleksandra Reszka, Cyprian Mendonca. tfm Publishing Ltd., Shrewbsury, UK; 2023. CAD 60.76, 224 pages. Paperback ISBN: 978-1-9137553-6-2.
- Published in:
- 2024
- By:
- Publication type:
- Book Review
Activation of an exonic splice-donor site in exon 30 of CDK5 RAP2 in a patient with severe microcephaly and pigmentary abnormalities.
- Published in:
- Clinical Case Reports, 2016, v. 4, n. 10, p. 952, doi. 10.1002/ccr3.663
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- Publication type:
- Article
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 21, p. 6146, doi. 10.1093/hmg/ddv331
- By:
- Publication type:
- Article
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 13, p. 3732, doi. 10.1093/hmg/ddv117
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- Publication type:
- Article