Publications by authors named "Judith Ranells"

10Publications

Disruptive variants of associate with autism and interfere with neuronal development and synaptic transmission.

Sci Adv 2019 09 25;5(9):eaax2166. Epub 2019 Sep 25.

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1126/sciadv.aax2166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760934PMC
September 2019

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome.

Clin Case Rep 2013 10;1(1)

Program in Genomics, Boston Children's Hospital, Boston, MA 02115 USA ; Department of Medicine (Genetics), Boston Children's Hospital, Boston, MA 02115 USA ; Department of Neurology, Boston Children's Hospital, Boston, MA 02115 USA ; Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115 USA ; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115 USA ; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115 USA ; Harvard Medical School, Boston, MA 02115 USA ; Howard Hughes Medical Institute, Chevy Chase, MD 20815 USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885256PMC
http://dx.doi.org/10.1002/ccr3.11DOI Listing
October 2013

Infantile hypertrophic pyloric stenosis: epidemiology, genetics, and clinical update.

Adv Pediatr 2011 ;58(1):195-206

Department of Pediatrics, College of Medicine, University of South Florida, 12901 Bruce B. Downs Boulevard, Tampa, FL 33612, USA.

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http://dx.doi.org/10.1016/j.yapd.2011.03.005DOI Listing
December 2011

Prenatal diagnosis of a 4q33-4qter deletion in a fetus with hydrops.

Fetal Diagn Ther 2008 2;24(3):250-3. Epub 2008 Sep 2.

Department of Obstetrics and Gynecology, Maternal Fetal Medicine Division, University of South Florida, Tampa, Florida, USA.

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https://www.karger.com/Article/FullText/151671
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http://dx.doi.org/10.1159/000151671DOI Listing
January 2009

Infant with high arched palate, bell-shaped chest, joint contractures, and intrauterine fractures.

Pediatr Pathol Mol Med 2002 Nov-Dec;21(6):569-84

University of South Florida College of Medicine, 17 Davis Boulevard, Tampa, FL 33606, USA.

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http://dx.doi.org/10.1080/pdp.21.6.569.584DOI Listing
June 2003