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American Journal of Medical Genetics. Part A|March 28, 2013
Fraser syndrome: epidemiological study in a European populationIngeborg Barisic, Ljubica Odak, Maria Loane, et al.
Nature Communications|August 29, 2020
Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesionJanne J M van Schie, Atiq Faramarz, Jesper A Balk, et al.
Neurology|April 8, 2016
Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomaliesHelen Dolk, Hao Wang, Maria Loane, et al.
American Journal of Medical Genetics. Part A|September 27, 2014
Major congenital anomalies in babies born with Down syndrome: a EUROCAT population-based registry studyJoan K Morris, Ester Garne, Diana Wellesley, et al.
BMJ (Clinical Research Ed.)|November 26, 2015
Long term trends in prevalence of neural tube defects in Europe: population based studyBabak Khoshnood, Maria Loane, Hermien de Walle, et al.
Molecular Genetics and Metabolism|September 17, 2013
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxaAikaterini Dimopoulou, Björn Fischer, Thatjana Gardeitchik, et al.
BMJ Paediatrics Open|June 23, 2023
Causes of death in children with congenital anomalies up to age 10 in eight European countriesAnke Rissmann, Joachim Tan, Svetlana V Glinianaia, et al.
The Journal of Pediatrics|July 28, 2012
Recent decrease in the prevalence of congenital heart defects in EuropeBabak Khoshnood, Maria Loane, Ester Garne, et al.
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