Showing results (1-10 of 30) with videos related to

Sort By:
Pageof 3
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|January 26, 2011
Pregnancy planning in women with pregestational diabetesLorraine L Lipscombe, Heather M McLaughlin, Wei Wu, et al.
The Journal of Allergy and Clinical Immunology. in Practice|November 23, 2024
Disparities in Genetic Testing for Inborn Errors of ImmunityKaren M Gilbert, Heather M McLaughlin, Jocelyn R Farmer, et al.
Advances in Therapy|December 5, 2024
Genetic Etiologies and Outcomes in Malignancy and Mortality in Activated Phosphoinositide 3-Kinase Delta Syndrome: A Systematic ReviewKatharina Büsch, Heidi L Memmott, Heather M McLaughlin, et al.
BMC Medical Genetics|July 3, 2013
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathyHeather M McLaughlin, Melissa A Kelly, Pamela P Hawley, et al.
Elife|April 9, 2020
Direct ETTIN-auxin interaction controls chromatin states in gynoecium developmentAndré Kuhn, Sigurd Ramans Harborough, Heather M McLaughlin, et al.
Molecular and Cellular Neurosciences|December 1, 2010
An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutationsMorgane Stum, Heather M McLaughlin, Erica L Kleinbrink, et al.
Pediatric Nephrology (Berlin, Germany)|May 19, 2023
COL4A gene variants are common in children with hematuria and a family history of kidney diseaseMichelle N Rheault, Heather M McLaughlin, Asia Mitchell, et al.
American Journal of Medical Genetics. Part A|May 4, 2024
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to dateGretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, et al.
Human Mutation|October 20, 2011
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)Heather M McLaughlin, Reiko Sakaguchi, William Giblin, et al.
Human Mutation|August 30, 2012
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivoAimée Vester, Gisselle Velez-Ruiz, Heather M McLaughlin, et al.
Pageof 3