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Seizure|December 31, 2023
Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onsetEmily A Innes, Fleur Annette Le Marne, Rebecca Macintosh, et al.
Anaesthesia|January 12, 2019
Guidelines for the peri-operative care of people with dementia: Guidelines from the Association of AnaesthetistsS White, R Griffiths, M Baxter, et al.
Cell|October 5, 1990
Identification, purification, and biological characterization of hematopoietic stem cell factor from buffalo rat liver--conditioned mediumK M Zsebo, J Wypych, I K McNiece, et al.
Cancer Detection and Prevention|April 17, 1998
Cigarette smoking and cervical dysplasia among non-Hispanic black womenP A Kanetsky, M D Gammon, J Mandelblatt, et al.
Clinical Genetics|July 23, 2021
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteinsSmrithi Salian, Marcello Scala, Thi Tuyet Mai Nguyen, et al.
Molecular Genetics & Genomic Medicine|January 10, 2018
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectivenessElizabeth E Palmer, Deborah Schofield, Rupendra Shrestha, et al.
Human Molecular Genetics|June 9, 2016
Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathyElizabeth E Palmer, Kelsey E Jarrett, Rani K Sachdev, et al.
Cell|February 24, 2018
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and SeizuresVincenzo A Gennarino, Elizabeth E Palmer, Laura M McDonell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2019
De novo and biallelic DEAF1 variants cause a phenotypic spectrumMaria J Nabais Sá, Philip J Jensik, Stacey R McGee, et al.
American Journal of Human Genetics|March 5, 2019
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive SyndromeElizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, et al.
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