Publications by authors named "Nicole Ulrick"

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Hepatic Involvement in Aicardi-Goutières Syndrome.
Francesco Gavazzi, Zachary M Cross, Sarah Woidill, Joseph M McMann, Elizabeth B Rand, Nicole Ulrick

Neuropediatrics· December 2021

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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, Amytice Mirchi, Stephan Saikali, Nicole Ulrick

J Clin Endocrinol Metab· January 2021

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Janus Kinase Inhibition in the Aicardi-Goutières Syndrome.
Adeline Vanderver, Laura Adang, Francesco Gavazzi, Katherine McDonald, Guy Helman, Nicole Ulrick

N Engl J Med· September 2020

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Developmental Outcomes of Aicardi Goutières Syndrome.
Laura Adang, Francesco Gavazzi, Micaela De Simone, Elisa Fazzi, Jessica Galli, Nicole Ulrick

J Child Neurol· January 2020

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Aicardi goutières syndrome is associated with pulmonary hypertension.
Laura A Adang, David B Frank, Ahmed Gilani, Asako Takanohashi, Nicole Ulrick

Mol Genet Metab· December 2018

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X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, Joanna Crawford, Annette Bley, Nicole Ulrick

Neurogenetics· December 2017

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Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.
Thais Armangue, Joseph J Orsini, Asako Takanohashi, Francesco Gavazzi, Alex Conant, Nicole Ulrick

Mol Genet Metab· November 2017

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Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Gillian I Rice, Naoki Kitabayashi, Magalie Barth, Tracy A Briggs, Annabel C E Burton, Nicole Ulrick

Neuropediatrics· June 2017

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RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.
Nicole Ulrick, Amy Goldstein, Cas Simons, Ryan J Taft, Guy Helman

Pediatr Neurol· January 2017

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The clinical, biochemical and genetic features associated with -related mitochondrial disease.
Yi Shiau Ng, Charlotte L Alston, Daria Diodato, Andrew A Morris, Nicole Ulrick

J Med Genet· November 2016

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