Výsledky vyhledávání - "Morry Fiddler"

Akademický článek

De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication

Autor: Abul Kalam Azad, Lindsay Yanakakis, Samantha Issleb, Jessica Turina, Kelli Drabik, Christina Bonner, Eve Simi, Andrew Wagner, Morry Fiddler, Rizwan Naeem

Publikováno v: Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-7 (2020)

Abstract Background Full or partial monosomy of chromosome (chr) 21 is a very rare abnormal cytogenetic finding. It is characterized by variable sizes and deletion breakpoints on the long arm (q) of chr 21 that lead to a broad spectrum of phenotypes

Externí odkaz: https://doaj.org/article/8ad9111576624b69945fa87b8f5f5c34

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Enhanced Carrier Screening for Spinal Muscular Atrophy: Detection of Silent (SMN1: 2 + 0) Carriers Utilizing a Novel TaqMan Genotyping Method

Autor: Hongwei Zou, Chih Kang Huang, Abul Kalam Azad, Hong Jin, Y. Goldstein, Rizwan Naeem, Juan Du, Morry Fiddler, Lindsay Yanakakis

Publikováno v: Laboratory Medicine. 51:408-415

Background Individuals whose copies of the survival motor neuron 1 (SMN1) gene exist on the same chromosome are considered silent carriers for spinal muscular atrophy (SMA). Conventional screening for SMA only determines SMN1 copy number without any

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99b3903570c906c3e1910cc4af9fb1d7
https://doi.org/10.1093/labmed/lmz088

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Prenatal genetic counselors' perceptions of the impact of abortion legislation on counseling and access in the United States

Autor: Shelby Koenig, Morry Fiddler, Aaron J. Goldenberg, Susheela Jayaraman, Eve Simi, Susan Magasi, Catherine Wicklund

Publikováno v: Journal of genetic counselingREFERENCES. 30(6)

Genetic counselors have an important role in offering and appropriate coordinating abortion services for patients identified with a fetal abnormality. Few studies have been conducted to determine the effects of legislation on genetic counselors and p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c57d569a66d05bb36a46e33de2535478
https://pubmed.ncbi.nlm.nih.gov/34096144

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De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication

Autor: Jessica Turina, Lindsay Yanakakis, Kelli Drabik, Eve Simi, Abul Kalam Azad, Morry Fiddler, Andrew Wagner, Christina Bonner, Samantha Issleb, Rizwan Naeem

Publikováno v: Molecular Cytogenetics
Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-7 (2020)

Background Full or partial monosomy of chromosome (chr) 21 is a very rare abnormal cytogenetic finding. It is characterized by variable sizes and deletion breakpoints on the long arm (q) of chr 21 that lead to a broad spectrum of phenotypes that incl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0d9f5d7e7b36c450f8a8ae8a3229304
https://doi.org/10.21203/rs.3.rs-39199/v2

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Bringing Students’: Experience to the Learning Process

Autor: Catherine Marienau, Morry Fiddler

Publikováno v: About Campus: Enriching the Student Learning Experience. 7:13-19

Experience has been the focus of many approaches to student engagement and active learning. However, how can students make that critical connection between their own experiences and what they are studying? The authors show how student reflection is t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::59e3aa09bc2eb68a33799e0bc52772c9
https://doi.org/10.1177/108648220200700504

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