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Christina Botti

Showing results (1-10 of 16) with videos related to

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Journal of Pediatric Health Care : Official Publication of National Association of Pediatric Nurse Associates & Practitioners|June 29, 2019
Expanded Prenatal Genetic and Newborn Screening: One Family's Wild RideSharon Anderson, Christina Botti
Journal of the American Association of Nurse Practitioners|August 25, 2023
The genetics of autosomal dominant familial hypercholesterolemiaSharon Anderson, Christina Botti
Pediatric Clinics of North America|March 26, 2022
Congenital Sensorineural Hearing LossSamantha Shave, Christina Botti, Kelvin Kwong
Case Reports in Endocrinology|January 10, 2019
Heterozygous <i>NPR2</i> Mutation in Two Family Members with Short Stature and Skeletal DysplasiaMarianne Jacob, Surabhi Menon, Christina Botti, et al.
Cureus|September 2, 2024
Neonatal Presentation of Ornithine Transcarbamylase Deficiency Associated With a Hypomorphic OTC Variant (p.Leu301Phe) Previously Reported in Later-Onset DiseaseSharon Anderson, Molly Ciarlariello, Christina Botti, et al.
Journal of Child Neurology|August 9, 2018
Further Delineation of Ribose-5-phosphate Isomerase Deficiency: Report of a Third CaseSusan Sklower Brooks, Sharon Anderson, Vikram Bhise, et al.
American Journal of Medical Genetics. Part A|September 17, 2013
Partial trisomy 15q23 and partial monosomy 5p15.32: Case report and a literature reviewSurasak Puvabanditsin, Imteyaz Khan, Eugene Garrow, et al.
Journal of Genetic Counseling|October 25, 2023
The potential impact of implementation of expanded carrier screening on pediatric patient diagnoses: A retrospective chart review of patients who receive care in an outpatient genetics clinic in the northeastKelly Roche, Shama P Khan, Christina Botti, et al.
Molecular Syndromology|February 26, 2019
8p 11 Microduplication Is Associated with Neonatal StridorSurasak Puvabanditsin, Natalie Gengel, Christina Botti, et al.
American Journal of Medical Genetics. Part A|August 9, 2018
Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCNRachel D Burnside, Sharon Molinari, Christina Botti, et al.
Pageof 2

Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
Journal of Pediatric Health Care : Official Publication of National Association of Pediatric Nurse Associates & Practitioners|June 29, 2019
Expanded Prenatal Genetic and Newborn Screening: One Family's Wild RideSharon Anderson, Christina Botti
Journal of the American Association of Nurse Practitioners|August 25, 2023
The genetics of autosomal dominant familial hypercholesterolemiaSharon Anderson, Christina Botti
Pediatric Clinics of North America|March 26, 2022
Congenital Sensorineural Hearing LossSamantha Shave, Christina Botti, Kelvin Kwong
Case Reports in Endocrinology|January 10, 2019
Heterozygous <i>NPR2</i> Mutation in Two Family Members with Short Stature and Skeletal DysplasiaMarianne Jacob, Surabhi Menon, Christina Botti, et al.
Cureus|September 2, 2024
Neonatal Presentation of Ornithine Transcarbamylase Deficiency Associated With a Hypomorphic OTC Variant (p.Leu301Phe) Previously Reported in Later-Onset DiseaseSharon Anderson, Molly Ciarlariello, Christina Botti, et al.
Journal of Child Neurology|August 9, 2018
Further Delineation of Ribose-5-phosphate Isomerase Deficiency: Report of a Third CaseSusan Sklower Brooks, Sharon Anderson, Vikram Bhise, et al.
American Journal of Medical Genetics. Part A|September 17, 2013
Partial trisomy 15q23 and partial monosomy 5p15.32: Case report and a literature reviewSurasak Puvabanditsin, Imteyaz Khan, Eugene Garrow, et al.
Journal of Genetic Counseling|October 25, 2023
The potential impact of implementation of expanded carrier screening on pediatric patient diagnoses: A retrospective chart review of patients who receive care in an outpatient genetics clinic in the northeastKelly Roche, Shama P Khan, Christina Botti, et al.
Molecular Syndromology|February 26, 2019
8p 11 Microduplication Is Associated with Neonatal StridorSurasak Puvabanditsin, Natalie Gengel, Christina Botti, et al.
American Journal of Medical Genetics. Part A|August 9, 2018
Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCNRachel D Burnside, Sharon Molinari, Christina Botti, et al.
Pageof 2