Found: 8
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Case of autosomal-recessive spinal muscular atrophy with respiratory distress type 1 caused by compound heterozygous mutations in immunoglobulin-binding protein 2 gene: expansion in clinical features.
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- Middle East Journal of Medical Genetics, 2021, v. 10, n. 2, p. 76, doi. 10.4103/mxe.mxe_8_21
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- Article
Ancestry and Pathology in King Tutankhamun's Family.
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- JAMA: Journal of the American Medical Association, 2010, v. 303, n. 7, p. 638, doi. 10.1001/jama.2010.121
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- Article
Broadening the clinical spectrum of ALGS: an Egyptian cohort with five novel mutations in JAG1 gene.
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- Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00241-9
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- Article
DDX43 mRNA expression and protein levels in relation to clinicopathological profile of breast cancer.
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- PLoS ONE, 2023, v. 17, n. 5, p. 1, doi. 10.1371/journal.pone.0284455
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- Article
Insights from ancient DNA analysis of Egyptian human mummies: clues to disease and kinship.
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- Human Molecular Genetics, 2021, v. 30, n. R1, p. R24, doi. 10.1093/hmg/ddaa223
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- Article
Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1631
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- Article
Bioarcheology: Medicine, Biology, and Forensic Sciences.
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- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/671206
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- Article
Epigenetic effects toward new insights as potential therapeutic target in B-thalassemia.
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- Journal of Genetic Engineering & Biotechnology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s43141-021-00138-x
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- Article