Suchergebnisse - "Ahimaz, Priyanka"

PubPharm (9)

1

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

enthalten in: European journal of human genetics : EJHG | 2023

von Ganapathi, M. | Matsuoka, L. | March, M. | +35

2

Exploring the role of genetic counselors in immunology : A study of immunologist and allergist perspectives

enthalten in: The journal of allergy and clinical immunology. In practice | 2023

von Ahimaz, P. | Foltz, J. | Ross, M. | +3

3

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von van Jaarsveld, R. | Reilly, J. | Cornips, M. | +56

4

A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome

enthalten in: Cold Spring Harbor molecular case studies | 2022

von Ganapathi, M. | Buchovecky, C. | Cristo, F. | +7

5

PPA2-associated sudden cardiac death : extending the clinical and allelic spectrum in 20 new families

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2021

von Guimier, A. | Achleitner, M. | Moreau de Bellaing, A. | +57

ErratumIn: Genet Med. 2022 Apr;24(4):967. - PMID 35394429

6

Clinical genetic counselor experience in the adoption of telehealth in the United States and Canada during the COVID-19 pandemic

enthalten in: Journal of genetic counseling | 2021

von Ma, D. | Ahimaz, P. | Mirocha, J. | +4

7

A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function

enthalten in: Journal of medical genetics | 2021

von Al-Deri, N. | Okur, V. | Ahimaz, P. | +7

8

Impact of Genetic Testing for Cardiomyopathy on Emotional Well-Being and Family Dynamics : A Study of Parents and Adolescents

enthalten in: Circulation. Genomic and precision medicine | 2021

von Ahimaz, P. | Sabatello, M. | Qian, M. | +15

9

Impact of patient education videos on genetic counseling outcomes after exome sequencing

enthalten in: Patient education and counseling | 2020

von Hernan, R. | Cho, M. | Wilson, A. | +22

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