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The Clinical Teacher|August 20, 2011
A novel technique for teaching the brachial plexusHenrietta Lefroy, Victoria Burdon-Bailey, Aneel Bhangu, et al.
American Journal of Medical Genetics. Part A|August 7, 2018
1q24 deletion syndrome. Two cases and new insights into genotype-phenotype correlationsHenrietta Lefroy, Olivia Fox, Muhammad K Javaid, et al.
Journal of Medical Genetics|May 8, 2021
Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluationLauren M Cairns, Julia Rankin, Asma Hamad, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 7, 2019
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibilityNeeti Ghali, Duncan Baker, Angela F Brady, et al.
American Journal of Medical Genetics. Part A|July 18, 2019
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new casesLucy Bownass, Stephen Abbs, Ruth Armstrong, et al.
Journal of Medical Genetics|August 28, 2019
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practiceAia Elise Jønch, Elise Douard, Clara Moreau, et al.
American Journal of Medical Genetics. Part A|July 16, 2026
Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic EncephalopathyDonald R Latner, Susan M Hiatt, Candice R Finnila, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 28, 2022
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profileReem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, et al.
Biological Psychiatry|August 25, 2019
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β SignalingBrett V Johnson, Raman Kumar, Sabrina Oishi, et al.
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