Suchergebnisse - "Ahimaz, Priyanka"

PubPharm (40)

11

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

12

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

13

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

14

Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers-Danlos syndrome

enthalten in: American journal of medical genetics. Part A | 2022

von Ahimaz, P. | Kramer, T. | Swaroop, P. | +4

15

Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas

enthalten in: HGG advances | 2022

von Zhong, G. | Ahimaz, P. | Edwards, N. | +15

ErratumIn: HGG Adv. 2022 Jun 29;3(3):100126. - PMID 35800210

16

Erratum : Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas

enthalten in: HGG advances | 2022

von Zhong, G. | Ahimaz, P. | Edwards, N. | +15

ErratumFor: HGG Adv. 2022 Apr 16;3(3):100107. - PMID 35519826

17

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 | 2022

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

ErratumFor: Genet Med. 2021 Dec;23(12):2415-2425. - PMID 34400813

18

Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2022

von Ahimaz, P. | Kramer, T. | Swaroop, P. | +4

19

Discovering the Developmental Basis of Trachea‐Esophageal Birth Defects : Evidence for Endosome‐opathies

enthalten in: The FASEB Journal | 2022

von Edwards, N. | Zhong, G. | Ahimaz, P. | +6

20

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