E-LIB Suche - Ergebnisse für: Rajab, Anna

1

Author Correction: Mutations in PYCR1 cause cutis laxa with..:

Reversade, Bruno ; Escande-Beillard, Nathalie ; Dimopoulou, Aikaterini...
Nature Genetics. 54 (2022) 2 - p. 213-213 , 2022

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

2

DALIA- a comprehensive resource of Disease Alleles in Arab ..:

Vatsyayan, Aastha ; Sharma, Parul ; Gupta, Shrey...
PLOS ONE. 16 (2021) 1 - p. e0244567 , 2021

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

3

Genetic disruption of WASHC4 drives endo-lysosomal dysfunct..:

Courtland, Jamie L ; Bradshaw, Tyler WA ; Waitt, Greg...
eLife. 10 (2021) - p. , 2021

Link: https://doi.org/10.7554/..

4

Regulation of human cerebral cortical development by EXOC7 ..:

Coulter, Michael E. ; Musaev, Damir ; DeGennaro, Ellen M....
Genetics in Medicine. 22 (2020) 6 - p. 1040-1050 , 2020

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

5

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/..

6

Biallelic loss of function variants inPPP1R21cause a neurod..:

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

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

7

PRUNE is crucial for normal brain development and mutated i..:

Zollo, Massimo ; Ahmed, Mustafa ; Ferrucci, Veronica...
Brain. 140 (2017) 4 - p. 940-952 , 2017

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

8

Cytogenetic studies of 1232 patients with different sexual ..:

Al-Alawi, Intisar ; Goud, Tadakal Mallana ; Al-Harasi, Salma.
Reproductive BioMedicine Online. 32 (2016) 2 - p. 162-169 , 2016

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

9

Mutations in mitochondrial enzyme GPT2 cause metabolic dysf..:

Ouyang, Qing ; Nakayama, Tojo ; Baytas, Ozan...
Proceedings of the National Academy of Sciences of the United States of America. 113 (2016) 38 - p. E5598-E5607 , 2016

Link: https://www.jstor.org/st..

10

Mutations in mitochondrial enzyme GPT2 cause metabolic dysf..:

Ouyang, Qing ; Nakayama, Tojo ; Baytas, Ozan...
Proceedings of the National Academy of Sciences. 113 (2016) 38 - p. , 2016

Link: https://doi.org/10.1073/..

11

Novel loss‐of‐function variants in DIAPH1 associated with s..:

Al‐Maawali, Almundher ; Barry, Brenda J. ; Rajab, Anna...
American Journal of Medical Genetics Part A. 170 (2015) 2 - p. 435-440 , 2015

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

12

Loss of PCLO function underlies pontocerebellar hypoplasia ..:

Ahmed, Mustafa Y. ; Chioza, Barry A. ; Rajab, Anna...
Neurology. 84 (2015) 17 - p. 1745-1750 , 2015

Link: https://doi.org/10.1212/..

13

Repository of mutations from Oman: The entry point to a nat..:

Rajab, Anna ; Hamza, Nishath ; Al Harasi, Salma...
F1000Research. 4 (2015) - p. 891 , 2015

Link: https://doi.org/10.12688..

14

Genetic testing in emerging economies (GenTEE): summary rep..

EUR, Scientific and technical research series, 26169

Nippert, Irmgard ; Christianson, Arnold ; Gribaldo, Laura... , 2013

Link: http://bookshop.europa.e..

15

Severe neuronopathic autosomal recessive osteopetrosis due ..:

Ott, Claus-Eric ; Fischer, Björn ; Schröter, Phillipe...
Bone. 55 (2013) 2 - p. 292-297 , 2013

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