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First successful application of preimplantation genetic diagnosis and haplotyping for congenital hyperinsulinism

Wafa Qubbaj, Abdulrahman Alswaid, Saad S. M. Hassan, Khalid Awartani, Hesham Deek, Serdar Coşkun

Reproductive BioMedicine Online · 2010 · 19 citations · 41 references

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41

Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification

Alan H. Handyside, E. Kontogianni, Kate Hardy et al. · Nature · 1990 · 1.6K citations

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Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes

Anna L. Gloyn, Ewan R. Pearson, Jennifer F. Antcliff et al. · New England Journal of Medicine · 2004 · 1.1K citations

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Homozygosity Mapping: A Way to Map Human Recessive Traits with the DNA of Inbred Children

Eric S. Lander, David Botstein · Science · 1987 · 886 citations

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Mutations in the Sulfonylurea Receptor Gene in Familial Persistent Hyperinsulinemic Hypoglycemia of Infancy

Pamela M. Thomas, Gilbert J. Cote, Nelson Wohllk et al. · Science · 1995 · 816 citations

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Hyperinsulinism and Hyperammonemia in Infants with Regulatory Mutations of the Glutamate Dehydrogenase Gene

Charles A. Stanley, Yen K. Lieu, Betty Y.L. Hsu et al. · New England Journal of Medicine · 1998 · 672 citations · Full text

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