Publications by authors named "Lisa Robertson"

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Further delineation of phenotypic spectrum of SCN2A-related disorder.
Ruth Richardson, Diana Baralle, Christopher Bennett, Tracy Briggs, Emilia K Bijlsma, Lisa Robertson

Am J Med Genet A· March 2022

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Frequency, topic, and preferences: Tracking student engagement with several modalities of student-instructor contact in a first-year course.
Bailey E Bingham, Victoria Rea, Lisa Robertson, M Alex Smith, Shoshanah Jacobs

FEBS Open Bio· January 2022

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Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
David A Parry, Carol-Anne Martin, Philip Greene, Joseph A Marsh, , Lisa Robertson

Genet Med· February 2021

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Optimising intervals for abdominal aortic aneurysm surveillance: A pilot study analysing patient opinion.
Lisa Robertson

Ultrasound· February 2021

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County-level correlates of missed opportunities for HPV vaccination in Indiana: An environmental scan.
Sharon C Enujioke, Rivienne Shedd-Steele, Joanne Daggy, Heather Burney, Lisa Robertson

Vaccine· October 2020

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Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
Neeti Ghali, Duncan Baker, Angela F Brady, Nigel Burrows, Elena Cervi, Lisa Robertson

Genet Med· September 2019

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Analysis of patient breast dose from a mammographic biopsy unit.
Donald McLean, Lewis Ryan, Lisa Robertson

Australas Phys Eng Sci Med· March 2019

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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Víctor Faundes, William G Newman, Laura Bernardini, Natalie Canham, Jill Clayton-Smith, Lisa Robertson

Am J Hum Genet· January 2018

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14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability.
Gabriela E Jones, Lisa Robertson, Paul Warman, Emily V Craft, Lara Cresswell

Ophthalmic Genet· September 2016

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Ionoregulatory Aspects of the Osmorespiratory Compromise during Acute Environmental Hypoxia in 12 Tropical and Temperate Teleosts.
Lisa M Robertson, Adalberto Luis Val, Vera F Almeida-Val, Chris M Wood

Physiol Biochem Zool· April 2016

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Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.
Gabriela E Jones, Lisa Robertson, Amit Maniyar, Christos Shammas, Marie M Phelan

Am J Med Genet A· March 2016

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Gill paracellular permeability and the osmorespiratory compromise during exercise in the hypoxia-tolerant Amazonian oscar (Astronotus ocellatus).
Lisa M Robertson, Daiani Kochhann, Adalto Bianchini, Victoria Matey, Vera F Almeida-Val

J Comp Physiol B· October 2015

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Allatostatin A-like immunoreactivity in the nervous system and gut of the larval midge Chironomus riparius: modulation of hindgut motility, rectal K+ transport and implications for exposure to salinity.
Lisa Robertson, Helen Chasiotis, Vladimir Galperin, Andrew Donini

J Exp Biol· November 2014

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Mechanisms of Na+ uptake, ammonia excretion, and their potential linkage in native Rio Negro tetras (Paracheirodon axelrodi, Hemigrammus rhodostomus, and Moenkhausia diktyota).
Chris M Wood, Lisa M Robertson, Ora E Johannsson, Adalberto Luis Val

J Comp Physiol B· October 2014

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K⁺ absorption by locust gut and inhibition of ileal K⁺ and water transport by FGLamide allatostatins.
Lisa Robertson, Andrew Donini, Angela B Lange

J Exp Biol· September 2014

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Somatic mosaicism in ACVRL1 with transmission to several offspring affected with severe pulmonary arterial hypertension.
Gabriela Jones, Lisa Robertson, Rachel Harrison, Cheryl Ridout, Pradeep Vasudevan

Am J Med Genet A· August 2014

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Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).
Angela Rogers, M Andrew Nesbit, Fadil M Hannan, Sarah A Howles, Caroline M Gorvin, Lisa Robertson

J Clin Endocrinol Metab· July 2014

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Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family.
Vani Jain, John Feehally, Gabriela Jones, Lisa Robertson, Dheepa Nair

Clin Kidney J· June 2014

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Measuring gill paracellular permeability with polyethylene glycol-4000 in freely swimming trout: proof of principle.
Lisa M Robertson, Chris M Wood

J Exp Biol· May 2014

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Cerebral cavernous malformation: clinical report of two families with variable phenotype associated with KRIT1 mutation.
Meena Balasubramanian, Vani Jain, Rhona C Glover, Lisa K Robertson, Santosh R Mordekar

Eur J Paediatr Neurol· November 2013

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Impact of environmental oxygen, exercise, salinity, and metabolic rate on the uptake and tissue-specific distribution of 17α-ethynylestradiol in the euryhaline teleost Fundulus heteroclitus.
Tamzin A Blewett, Lisa M Robertson, Deborah L Maclatchy, Chris M Wood

Aquat Toxicol· August 2013

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The neural and peptidergic control of gut contraction in Locusta migratoria: the effect of an FGLa/AST.
Lisa Robertson, E Patricia Rodriguez, Angela B Lange

J Exp Biol· October 2012

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Current Pharmacological Management in Juvenile Huntington's Disease.
Lisa Robertson, Helen Santini, Kirsty L O'Donovan, Ferdinando Squitieri, Roger A Barker

PLoS Curr· February 2012

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Neural substrate and allatostatin-like innervation of the gut of Locusta migratoria.
Lisa Robertson, Angela B Lange

J Insect Physiol· August 2010

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Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
Markus Zweier, Anne Gregor, Christiane Zweier, Hartmut Engels, Heinrich Sticht, Lisa Robertson

Hum Mutat· June 2010

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