E-LIB Suche - Ergebnisse für: Rehman, Atteeq U.

1

86 Genome sequencing as a first-tier prenatal diagnostic te..:

Jobanputra, Vaidehi ; Giordano, Jessica L. ; Pervola, Josie...
American Journal of Obstetrics and Gynecology. 230 (2024) 1 - p. S64 , 2024

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

2

Implementation and Feasibility of Clinical Genome Sequencin..:

Marasa, Maddalena ; Ahram, Dina F. ; Rehman, Atteeq U....
Kidney International Reports. 8 (2023) 8 - p. 1638-1647 , 2023

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

3

Identification of copy number variants with genome sequenci..:

Bonini, Katherine E. ; Thomas‐Wilson, Amanda ; Marathe, Priya N....
Clinical Genetics. 104 (2023) 2 - p. 210-225 , 2023

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

4

Molecular diagnostic yield of genome sequencing versus targ..:

Abul-Husn, Noura S. ; Marathe, Priya N. ; Kelly, Nicole R....
Genetics in Medicine. 25 (2023) 9 - p. 100880 , 2023

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

5

Best practices for the interpretation and reporting of clin..:

Austin-Tse, Christina A. ; Jobanputra, Vaidehi ; Perry, Denise L....
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

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

6

Detection of mosaic variants using genome sequencing in a l..:

Odgis, Jacqueline A. ; Gallagher, Katie M. ; Rehman, Atteeq U....
American Journal of Medical Genetics Part A. 191 (2022) 3 - p. 699-710 , 2022

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

7

Cover Image, Volume 40, Issue 3:

Rehman, Atteeq U. ; Najafi, Maryam ; Kambouris, Marios...
Human Mutation. 40 (2019) 3 - p. i-i , 2019

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

8

Loss of function of NCOR1 and NCOR2 impairs memory through ..:

DDD study ; Zhou, Wenjun ; He, Yanlin...
Nature Neuroscience. 22 (2019) 2 - p. 205-217 , 2019

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

9

Author Correction: Loss of function of NCOR1 and NCOR2 impa..:

DDD study ; Zhou, Wenjun ; He, Yanlin...
Nature Neuroscience. 22 (2019) 9 - p. 1533-1533 , 2019

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

10

A de novo variant in the human HIST1H4J gene causes a syndr..:

Tessadori, Federico ; Rehman, Atteeq U. ; Giltay, Jacques C....
European Journal of Human Genetics. 28 (2019) 5 - p. 674-678 , 2019

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

11

Global genetic insight contributed by consanguineous Pakist..:

Richard, Elodie M. ; Santos-Cortez, Regie Lyn P. ; Faridi, Rabia...
Human Mutation. 40 (2018) 1 - p. 53-72 , 2018

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

12

Biallelic loss of function variants inPPP1R21cause a neurod..:

Rehman, Atteeq U. ; Najafi, Maryam ; Kambouris, Marios...
Human Mutation. , 2018

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

13

Grxcr2 is required for stereocilia morphogenesis in the coc..:

Avenarius, Matthew R. ; Jung, Jae-Yun ; Askew, Charles...
PLOS ONE. 13 (2018) 8 - p. e0201713 , 2018

Link: https://doi.org/10.1371/..

14

Mutational and phenotypic spectra ofKCNE1deficiency in Jerv..:

Faridi, Rabia ; Tona, Risa ; Brofferio, Alessandra...
Human Mutation. , 2018

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

15

Defects in the Alternative Splicing-Dependent Regulation of..:

Nakano, Yoko ; Kelly, Michael C. ; Rehman, Atteeq U....
Cell. 174 (2018) 3 - p. 536-548.e21 , 2018

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