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Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosome region in 22q11
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Prevalence of 22q11 deletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counselling and prenatal diagnosis
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Microdeletion of chromosomal region in patients with congenital conotruncal cardiac defects
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Clinical and molecular study of DiGeorge sequence
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"CATCH 22" sans cardiac anomaly, thymic hypoplasia, cleft palate and hypocalcemia: Catch 22: A common result of 22q11 deficiency?
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Velo-cardio-facial syndrome and DiGeorge sequence with myelomeningocele and deletions of the 22q11 region
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Nickel RE, Pillers DEA, Merkens M, Magenis Re, Driscoll D, Emanuel B, Zonana J (1994): Velo-cardio-facial syndrome and DiGeorge sequence with myelomeningocele and deletions of the 22q11 region. Am J Med Genet 52:445-449.
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A new syndrome involving cleft palate, cardiac anomaly, typical facies, and learning disabilities: Velo-cardio-facial syndrome
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