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The Israel Medical Association Journal : IMAJ|November 29, 2020
Immune-Mediated Fetal Complete Atrioventricular Block: Can Dexamethasone Therapy Revert the Process?Zeev Perles, Yuval Ishay, Amiram Nir, et al.
Journal of Medical Genetics|January 15, 2014
Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutationAsaf Ta-Shma, Nael El-lahham, Simon Edvardson, et al.
Journal of Medical Genetics|November 2, 2016
Congenital valvular defects associated with deleterious mutations in the <i>PLD1</i> geneAsaf Ta-Shma, Kai Zhang, Ekaterina Salimova, et al.
Journal of the American College of Cardiology|December 10, 2003
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compactionMatteo Vatta, Bhagyalaxmi Mohapatra, Shinawe Jimenez, et al.
Plos Genetics|August 28, 2018
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertilityAsaf Ta-Shma, Rim Hjeij, Zeev Perles, et al.
American Journal of Human Genetics|May 15, 2018
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated CardiomyopathyArcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, et al.
Nature Communications|November 3, 2020
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis moduleGerard W Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, et al.
The Journal of Clinical Investigation|March 1, 2021
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathyNajim Lahrouchi, Alex V Postma, Christian M Salazar, et al.
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