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Publications by authors named "Lydia Gaffney"

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Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects.
Sarah J Beecroft, Marcos Ayala, George McGillivray, Vikas Nanda, Emanuele Agolini, Lydia Gaffney

Hum Mutat· May 2021


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Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction.
Zornitza Stark, David Francis, Lydia Gaffney, Jacqueline Greenberg, Louise Hills

Am J Med Genet A· October 2015


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Declining prevalence of cystic fibrosis since the introduction of newborn screening.
John Massie, Lisette Curnow, Lydia Gaffney, John Carlin, Ivan Francis

Arch Dis Child· July 2010


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