Publications by authors named "Luis F Escobar"

17Publications

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 06 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome.

Am J Med Genet A 2016 07 3;170(7):1908-11. Epub 2016 May 3.

Center for Clinical and Translational Research, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.37676DOI Listing
July 2016

Hydranencephaly in a newborn with a FLVCR2 mutation and prenatal exposure to cocaine.

Birth Defects Res A Clin Mol Teratol 2015 Jan 30;103(1):45-50. Epub 2014 Jul 30.

Indiana University Medical and Molecular Genetics, Indianapolis, Indiana.

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http://dx.doi.org/10.1002/bdra.23288DOI Listing
January 2015

Significant phenotypic variability of Muenke syndrome in identical twins.

Am J Med Genet A 2009 Jun;149A(6):1273-6

Medical Genetics and Neurodevelopmental Center, St. Vincent Children's Hospital, Indianapolis, Indiana, USA.

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http://doi.wiley.com/10.1002/ajmg.a.32841
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http://dx.doi.org/10.1002/ajmg.a.32841DOI Listing
June 2009

Urorectal septum malformation sequence: prenatal progression, clinical report, and embryology review.

Am J Med Genet A 2007 Nov;143A(22):2722-6

Medical Genetics and Neurodevelopment Center, St. Vincent Children's Hospital, St. Vincent Health Services of Indianapolis, IN 46260, USA.

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http://dx.doi.org/10.1002/ajmg.a.31925DOI Listing
November 2007