Výsledky vyhledávání - "Kaitlin M. Angione"

An Objective Method for Evaluating Next-Generation Sequencing Panels

Autor: Melissa Gibbons, Kaitlin M. Angione, Scott Demarest

Publikováno v: Journal of Child Neurology. 34:139-143

Purpose: Next-generation sequencing panels are particularly useful in identifying genetic diagnoses in patients with nonspecific clinical findings by allowing for analysis of many genes at once. The purpose of this study was to develop a simple, obje

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20439bf2e9d01ea1f82c1dd61adc611f
https://doi.org/10.1177/0883073818815036

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Neocentric Supernumerary Ring Chromosome 8 Balanced With Homolog Deletion Along With Presence of a 7.4 Mb Deletion of 2q24.3q31.1 in a Child With Seizures

Autor: Billie J. Carstens, Peter Brzeskiewicz, Jamie LeRoux, Elizabeth Dubow, Heather Jacques, Kaitlin M. Angione, Rachel A. Rowe, Kimberly Harding, Divya Narayanan, Karen Swisshelm, Deborrah D. Hennerich, Mary M. Haag

Publikováno v: Cancer Genetics. :49-50

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4a4c81c48e24d6684da504c383221ca9
https://doi.org/10.1016/j.cancergen.2017.04.057

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De novo variants in MAPK8IP3 cause intellectual disability with variable brain anomalies

Publikováno v: Web of Science
American Journal of Human Genetics, 104(2), 203-212. Cell Press

Using exome sequencing, we have identified de novo variants in MAPK8IP3 in 13 unrelated individuals presenting with an overlapping phenotype of mild to severe intellectual disability. The de novo variants comprise six missense variants, three of whic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cd27bfd250a24de4fe1d6e0758f8c56
https://publons.com/wos-op/publon/31183129/

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