E-LIB Suche - Ergebnisse für: Al Shamsi, Aisha

1

Severe CNS involvement in a subset of long-term treated chi..:

Kenney-Jung, Daniel ; Korlimarla, Aditi ; Spiridigliozzi, Gail A....
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108119 , 2024

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

2

PDZD8 Disruption Causes Cognitive Impairment in Humans, Mic..:

Al-Amri, Ahmed H. ; Armstrong, Paul ; Amici, Mascia...
Biological Psychiatry. 92 (2022) 4 - p. 323-334 , 2022

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

3

A homozygous MED11 C-terminal variant causes a lethal neuro..:

Calì, Elisa ; Lin, Sheng-Jia ; Rocca, Clarissa...
Genetics in Medicine. 24 (2022) 10 - p. 2194-2203 , 2022

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

4

Combined SPINK1 mutations induce early-onset severe chronic..:

Abass, Maha Khalil ; Al Shamsi, Aisha ; Jan, Iftikhar..
Endocrinology, Diabetes & Metabolism Case Reports. 2022 (2022) - p. , 2022

Link: https://doi.org/10.1530/..

5

Spectrum of neuro‐genetic disorders in the United Arab Emir..:

Saleh, Sirine ; Beyyumi, Ela ; Al Kaabi, Aysha...
Clinical Genetics. 100 (2021) 5 - p. 573-600 , 2021

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

6

Hereditary orotic aciduria (HOA): A novel uridine-5-monopho..:

Al Absi, Hebah S. ; Sacharow, Stephanie ; Al Zein, Naser..
Molecular Genetics and Metabolism Reports. 26 (2021) - p. 100703 , 2021

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

7

Clinical, Biochemical, and Genetic Heterogeneity in Glutari..:

Ali, Amanat ; Almesmari, Fatmah Saeed Ali ; Dhahouri, Nahid Al...
Genes. 12 (2021) 9 - p. 1334 , 2021

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

8

A novel missense heterozygous mutation in MAP3K1 gene cause..:

Al Shamsi, Aisha ; Al Hassani, Noura ; Hamchou, Moustafa..
Molecular Genetics & Genomic Medicine. 8 (2020) 11 - p. , 2020

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

9

De novo and inherited TCF20 pathogenic variants are associa..:

The DDD study ; Vetrini, Francesco ; McKee, Shane...
Genome Medicine. 11 (2019) 1 - p. , 2019

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

10

Correction to: De novo and inherited TCF20 pathogenic varia..:

The DDD study ; Vetrini, Francesco ; McKee, Shane...
Genome Medicine. 11 (2019) 1 - p. , 2019

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

11

Germline mutations in ABL1 cause an autosomal dominant synd..:

Wang, Xia ; Charng, Wu-Lin ; Chen, Chun-An...
Nature Genetics. 49 (2017) 4 - p. 613-617 , 2017

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

12

Homozygous variants in pyrroline‐5‐carboxylate reductase 2 ..:

Meng, Linyan ; Donti, Taraka ; Xia, Fan...
American Journal of Medical Genetics Part A. 173 (2016) 2 - p. 460-470 , 2016

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

13

MIPEP recessive variants cause a syndrome of left ventricul..:

Eldomery, Mohammad K. ; Akdemir, Zeynep C. ; Vögtle, F.-Nora...
Genome Medicine. 8 (2016) 1 - p. , 2016

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

14

Reversal of iron‐induced dilated cardiomyopathy during ther..:

Trad, Omar ; Hamdan, Mohamed A. ; Jamil, Altaf...
Pediatric Blood & Cancer. 52 (2009) 3 - p. 426-428 , 2009

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

15

Biallelic MED27 variants lead to variable ponto-cerebello-l..:

Maroofian, Reza ; Kaiyrzhanov, Rauan ; Cali, Elisa...
Brain. 146 (2023) 12 - p. 5031-5043 , 2023

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