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Gillian Rea

Showing results (11-20 of 16) with videos related to

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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 13, 2019
Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patientsPhilip J Ostrowski, Anna Zachariou, Chey Loveday, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2020
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathyDavid A Parry, Carol-Anne Martin, Philip Greene, et al.
Cold Spring Harbor Molecular Case Studies|January 5, 2017
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in <i>NDUFB11</i>Gillian Rea, Tessa Homfray, Jan Till, et al.
Neurology. Genetics|March 27, 2020
<i>MYORG</i>-related disease is associated with central pontine calcifications and atypical parkinsonismViorica Chelban, Miryam Carecchio, Gillian Rea, et al.
European Journal of Heart Failure|September 13, 2023
Assessing the association between genetic and phenotypic features of dilated cardiomyopathy and outcome in patients with coronary artery diseaseRichard E Jones, Daniel J Hammersley, Sean Zheng, et al.
Molecular Psychiatry|November 17, 2022
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental conditionElizabeth E Palmer, Michael Pusch, Alessandra Picollo, et al.
Pageof 2

Showing results (11-20 of 16) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 16 results.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 13, 2019
Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patientsPhilip J Ostrowski, Anna Zachariou, Chey Loveday, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2020
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathyDavid A Parry, Carol-Anne Martin, Philip Greene, et al.
Cold Spring Harbor Molecular Case Studies|January 5, 2017
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in <i>NDUFB11</i>Gillian Rea, Tessa Homfray, Jan Till, et al.
Neurology. Genetics|March 27, 2020
<i>MYORG</i>-related disease is associated with central pontine calcifications and atypical parkinsonismViorica Chelban, Miryam Carecchio, Gillian Rea, et al.
European Journal of Heart Failure|September 13, 2023
Assessing the association between genetic and phenotypic features of dilated cardiomyopathy and outcome in patients with coronary artery diseaseRichard E Jones, Daniel J Hammersley, Sean Zheng, et al.
Molecular Psychiatry|November 17, 2022
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental conditionElizabeth E Palmer, Michael Pusch, Alessandra Picollo, et al.
Pageof 2