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Journal of Pediatric Gastroenterology and Nutrition|August 1, 2014
Transient neonatal liver disease after maternal antenatal intravenous Ig infusions in gestational alloimmune liver disease associated with neonatal haemochromatosisJulien Baruteau, Sophie Heissat, Pierre Broué, et al.
European Journal of Medical Genetics|June 10, 2009
Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated casesCaroline Schluth-Bolard, Bruno Delobel, Damien Sanlaville, et al.
American Journal of Human Genetics|May 29, 2018
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3Sophia R Cameron-Christie, Constance F Wells, Marleen Simon, et al.
European Journal of Human Genetics : EJHG|May 28, 2015
A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this fieldRajae El Malti, Hui Liu, Bérénice Doray, et al.
Developmental Cell|June 29, 2022
Replication stress triggered by nucleotide pool imbalance drives DNA damage and cGAS-STING pathway activation in NAFLDRomain Donne, Maëva Saroul-Ainama, Pierre Cordier, et al.
Journal for Immunotherapy of Cancer|June 21, 2023
New hormone receptor-positive breast cancer mouse cell line mimicking the immune microenvironment of anti-PD-1 resistant mammary carcinomaMaria Perez-Lanzon, Vincent Carbonnier, Pierre Cordier, et al.
Birth Defects Research|December 2, 2017
In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetusesCaroline Alby, Lucile Boutaud, Maryse Bonnière, et al.
Journal of Medical Genetics|April 14, 2012
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer casesJoyce El Hokayem, Céline Huber, Adeline Couvé, et al.
Plos Genetics|March 12, 2016
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP DysregulationValentina Grampa, Marion Delous, Mohamad Zaidan, et al.
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