E-LIB Suche - Ergebnisse für: Jamshidi, Yalda

1

RTN2 deficiency results in an autosomal recessive distal mo..:

Maroofian, Reza ; Sarraf, Payam ; O'Brien, Thomas J...
Brain. 147 (2024) 7 - p. 2334-2343 , 2024

Link: https://doi.org/10.1093/..

2

Biallelic variants in OGDH encoding oxoglutarate dehydrogen..:

Whittle, Ella F. ; Chilian, Madison ; Karimiani, Ehsan Ghayoor...
Genetics in Medicine. 25 (2023) 2 - p. 100332 , 2023

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

3

Genetic Insights from Consanguineous Cardiomyopathy Familie:

Maurer, Constance ; Boleti, Olga ; Najarzadeh Torbati, Paria...
Genes. 14 (2023) 1 - p. 182 , 2023

Link: https://doi.org/10.3390/..

4

Correction: The use of polygenic risk scores in pre-implant..:

Forzano, Francesca ; Antonova, Olga ; Clarke, Angus...
European Journal of Human Genetics. 30 (2022) 5 - p. 628-628 , 2022

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

5

Correction to: Reply to Letter by Tellier et al., 'Scientif..:

Forzano, Francesca ; Antonova, Olga ; Clarke, Angus...
European Journal of Human Genetics. 31 (2022) 3 - p. 368-368 , 2022

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

6

Correction: The use of polygenic risk scores in pre-implant..:

Forzano, Francesca ; Antonova, Olga ; Clarke, Angus...
European Journal of Human Genetics. 30 (2022) 11 - p. 1306-1306 , 2022

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

7

Reply to Letter by Tellier et al., 'Scientific refutation o..:

Forzano, Francesca ; Antonova, Olga ; Clarke, Angus...
European Journal of Human Genetics. 31 (2022) 3 - p. 279-281 , 2022

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

8

Biallelic loss of LDB3 leads to a lethal pediatric dilated ..:

Koopmann, Tamara T. ; Jamshidi, Yalda ; Naghibi-Sistani, Mohammad...
European Journal of Human Genetics. 31 (2022) 1 - p. 97-104 , 2022

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

9

HIDEA syndrome is caused by biallelic, pathogenic, rare or ..:

Kraatari‐Tiri, Minna ; Soikkonen, Leila ; Myllykoski, Matti...
Clinical Genetics. 102 (2022) 5 - p. 444-450 , 2022

Link: https://doi.org/10.1111/..

10

Understanding the complex genetic architecture connecting r..:

Kasher, Melody ; Williams, Frances M K ; Freidin, Maxim B...
Human Molecular Genetics. 31 (2022) 16 - p. 2810-2819 , 2022

Link: https://doi.org/10.1093/..

11

The use of polygenic risk scores in pre-implantation geneti..:

Forzano, Francesca ; Antonova, Olga ; Clarke, Angus...
European Journal of Human Genetics. 30 (2021) 5 - p. 493-495 , 2021

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

12

Autosomal recessive cardiomyopathy and sudden cardiac death..:

Osborn, Daniel Peter Sayer ; Emrahi, Leila ; Clayton, Joshua...
Genetics in Medicine. 23 (2021) 4 - p. 787-792 , 2021

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

13

Testicular expression of TDRD1, TDRD5, TDRD9 and TDRD12 in ..:

Babakhanzadeh, Emad ; Khodadadian, Ali ; Rostami, Saadi...
BMC Medical Genetics. 21 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

14

Novel mutation identification and copy number variant detec..:

Cauley, Edmund S. ; Pittman, Alan ; Mummidivarpu, Swati...
Molecular Genetics & Genomic Medicine. 8 (2020) 11 - p. , 2020

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

15

Biallelic MFSD2A variants associated with congenital microc..:

Scala, Marcello ; Chua, Geok Lin ; Chin, Cheen Fei...
European Journal of Human Genetics. 28 (2020) 11 - p. 1509-1519 , 2020

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