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E V MORTON

Showing results (11-20 of 30) with videos related to

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Nature Neuroscience|June 22, 2019
Author Correction: Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projectionWenjun Zhou, Yanlin He, Atteeq U Rehman, et al.
American Journal of Medical Genetics. Part A|February 14, 2019
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndromeGraeme E Glass, Justine O'Hara, Natalie Canham, et al.
American Journal of Human Genetics|July 26, 2016
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates TranscriptionCristina Dias, Sara B Estruch, Sarah A Graham, et al.
Nature Genetics|June 20, 2006
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain ironNeil V Morgan, Shawn K Westaway, Jenny E V Morton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2020
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluationEduardo Calpena, Araceli Cuellar, Krithi Bala, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2021
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosisZerin Hyder, Eduardo Calpena, Yang Pei, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2020
SMAD6 variants in craniosynostosis: genotype and phenotype evaluationEduardo Calpena, Araceli Cuellar, Krithi Bala, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 28, 2026
Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental DisordersRamy Saad, Clementina Cobolli Gigli, Pleuntje J van der Sluijs, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2017
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural historyCecilia Giunta, Matthias Baumann, Christine Fauth, et al.
American Journal of Human Genetics|October 8, 2019
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive ImpairmentSarah K Fiordaliso, Aiko Iwata-Otsubo, Alyssa L Ritter, et al.
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Showing results (11-20 of 30) with videos related to

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Pageof 3
Nature Neuroscience|June 22, 2019
Author Correction: Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projectionWenjun Zhou, Yanlin He, Atteeq U Rehman, et al.
American Journal of Medical Genetics. Part A|February 14, 2019
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndromeGraeme E Glass, Justine O'Hara, Natalie Canham, et al.
American Journal of Human Genetics|July 26, 2016
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates TranscriptionCristina Dias, Sara B Estruch, Sarah A Graham, et al.
Nature Genetics|June 20, 2006
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain ironNeil V Morgan, Shawn K Westaway, Jenny E V Morton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2020
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluationEduardo Calpena, Araceli Cuellar, Krithi Bala, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2021
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosisZerin Hyder, Eduardo Calpena, Yang Pei, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2020
SMAD6 variants in craniosynostosis: genotype and phenotype evaluationEduardo Calpena, Araceli Cuellar, Krithi Bala, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 28, 2026
Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental DisordersRamy Saad, Clementina Cobolli Gigli, Pleuntje J van der Sluijs, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2017
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural historyCecilia Giunta, Matthias Baumann, Christine Fauth, et al.
American Journal of Human Genetics|October 8, 2019
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive ImpairmentSarah K Fiordaliso, Aiko Iwata-Otsubo, Alyssa L Ritter, et al.
Pageof 3