Christina Botti

Christina Botti

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Christina Botti

Christina Botti

Publications by authors named "Christina Botti"

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Expanded Prenatal Genetic and Newborn Screening: One Family's Wild Ride.

J Pediatr Health Care 2019 Sep - Oct;33(5):568-577. Epub 2019 Jun 25.

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http://dx.doi.org/10.1016/j.pedhc.2019.03.001DOI Listing
June 2019

Heterozygous Mutation in Two Family Members with Short Stature and Skeletal Dysplasia.

Case Rep Endocrinol 2018 28;2018:7658496. Epub 2018 Nov 28.

Rutgers-Robert Wood Johnson Medical School, Division of Pediatric Endocrinology, 1 Robert Wood Johnson Place, New Brunswick, NJ 08901, USA.

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https://www.hindawi.com/journals/crie/2018/7658496/
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http://dx.doi.org/10.1155/2018/7658496DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6304185PMC
November 2018

Further Delineation of Ribose-5-phosphate Isomerase Deficiency: Report of a Third Case.

J Child Neurol 2018 10 8;33(12):784-787. Epub 2018 Aug 8.

1 Pediatric Medical Genetics, Rutgers, The State University of New Jersey, Robert Wood Johnson Medical School, New Brunswick, NJ, USA.

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http://dx.doi.org/10.1177/0883073818789316DOI Listing
October 2018

Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN.

Am J Med Genet A 2018 09 8;176(9):1956-1963. Epub 2018 Aug 8.

Laboratory Corporation of America Holdings, Center for Molecular Biology and Pathology, Research Triangle Park, North Carolina.

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http://dx.doi.org/10.1002/ajmg.a.40355DOI Listing
September 2018

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.

Am J Hum Genet 2016 09 18;99(3):728-734. Epub 2016 Aug 18.

Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA; Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.06.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011042PMC
September 2016

Partial trisomy 15q23 and partial monosomy 5p15.32: Case report and a literature review.

Am J Med Genet A 2013 Dec 16;161A(12):3201-4. Epub 2013 Aug 16.

Department of Pediatrics, UMDNJ-RWJ Medical School New Brunswick, New Jersey.

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http://dx.doi.org/10.1002/ajmg.a.36150DOI Listing
December 2013

Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening.

Am J Med Genet A 2012 Sep 27;158A(9):2100-5. Epub 2012 Jul 27.

Division of Medical Genetics, Department of Pediatrics, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, New Jersey 08901, USA.

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http://dx.doi.org/10.1002/ajmg.a.35448DOI Listing
September 2012