E-LIB Suche - Ergebnisse für: Haghighi, Alireza

1

Genetic diagnosis of facioscapulohumeral muscular dystrophy..:

Li, Kun ; Quiat, Daniel ; She, Fei...
Genetics in Medicine Open. 2 (2024) - p. 101817 , 2024

2

Nemaline myopathy: reclassification of previously reported ..:

Haghighi, Alireza ; Alvandi, Zahra ; Nilipour, Yalda...
European Journal of Human Genetics. 31 (2023) 11 - p. 1237-1250 , 2023

Link: https://doi.org/10.1038/..

3

Contribution of Previously Unrecognized RNA Splice-Altering..:

Jang, Min Young ; Patel, Parth N. ; Pereira, Alexandre C....
Circulation: Genomic and Precision Medicine. 16 (2023) 3 - p. 224-231 , 2023

Link: https://doi.org/10.1161/..

4

Geographic variation in the association between Hashimoto's..:

Sweis, Nabil W. G. ; Zayed, Ayman A. ; Jaberi, Mira Al...
Endocrine. 81 (2023) 3 - p. 432-449 , 2023

Link: https://doi.org/10.1007/..

5

Genetic Determinants of Sudden Unexpected Death in Pediatri..:

Koh, Hyun Yong ; Haghighi, Alireza ; Keywan, Christine...
Genetics in Medicine. 24 (2022) 4 - p. 839-850 , 2022

Link: https://doi.org/10.1016/..

6

Copy Number Variation and Structural Genomic Findings in 11..:

Brownstein, Catherine A. ; Douard, Elise ; Haynes, Robin L....
Advanced Genetics. 4 (2022) 1 - p. , 2022

Link: https://doi.org/10.1002/..

7

Mechanisms of Congenital Heart Disease Caused by NAA15 Hapl..:

Ward, Tarsha ; Tai, Warren ; Morton, Sarah...
Circulation Research. 128 (2021) 8 - p. 1156-1169 , 2021

Link: https://doi.org/10.1161/..

8

Genetic determinants of Sudden Unexpected Death in Pediatri..:

Koh, Hyunyong ; Haghighi, Alireza ; Keywan, Christine...
Molecular Genetics and Metabolism. 132 (2021) - p. S59-S61 , 2021

Link: https://doi.org/10.1016/..

9

Molecular analysis of dilated and left ventricular noncompa..:

Mehaney, Dina A. ; Haghighi, Alireza ; Embaby, Amira K....
Cardiology in the Young. 32 (2021) 2 - p. 295-300 , 2021

Link: https://doi.org/10.1017/..

10

Association of Parental Consanguinity With Papillary Thyroi..:

Zayed, Ayman A ; Amarin, Justin Z ; Al-Ani, Abdallah T...
The Journal of Clinical Endocrinology & Metabolism. 106 (2021) 7 - p. e2769-e2774 , 2021

Link: https://doi.org/10.1210/..

11

Neonatal Diabetes Due to a Mutation in the Distal PTF1A Enh..:

Moravej, Hossein ; Mirrashidi, Fatemeh Sadat ; Haghighi, Alireza..
Iranian Journal of Pediatrics. 32 (2021) 1 - p. , 2021

Link: https://doi.org/10.5812/..

12

Genetic study of pediatric hypertrophic cardiomyopathy in E..:

Darwish, Rania K. ; Haghighi, Alireza ; Seliem, Zeinab S....
Cardiology in the Young. 30 (2020) 12 - p. 1910-1916 , 2020

Link: https://doi.org/10.1017/..

13

Expanding the clinical and genetic spectrum of ALPK3 varian..:

Herkert, Johanna C. ; Verhagen, Judith M.A. ; Yotti, Raquel...
American Heart Journal. 225 (2020) - p. 108-119 , 2020

Link: https://doi.org/10.1016/..

14

A gene-centric strategy for identifying disease-causing rar..:

Horvat, Claire ; Johnson, Renee ; Lam, Lien...
Genetics in Medicine. 21 (2019) 1 - p. 133-143 , 2019

Link: https://doi.org/10.1038/..

15

An integrated clinical program and crowdsourcing strategy f..:

Haghighi, Alireza ; Krier, Joel B. ; Toth-Petroczy, Agnes...
npj Genomic Medicine. 3 (2018) 1 - p. , 2018

Link: https://doi.org/10.1038/..