E-LIB Suche - Ergebnisse für: Temtamy, Samia A.

1

HLA-DRB typing among polyarticular juvenile idiopathic arth..:

El Dessouki, Dina ; Rady, Hanaa M. ; Kholoussi, Naglaa...
The Egyptian Rheumatologist. 44 (2022) 4 - p. 361-365 , 2022

2

Expansion of the phenotypic and mutational spectrum of Carp..:

Khairat, Rabab ; Elhossini, Rasha ; Sobreira, Nara...
European Journal of Medical Genetics. 65 (2022) 1 - p. 104377 , 2022

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

3

3D assessment of intervertebral disc degeneration in zebraf..:

Kague, Erika ; Turci, Francesco ; Newman, Elis...
Bone Research. 9 (2021) 1 - p. , 2021

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

4

Quaternary diagnostics scheme for mucolipidosis II and dete..:

Essawi, Mona L. ; Fateen, Ekram M. ; Atia, Hanan A....
Journal of Genetic Engineering and Biotechnology. 19 (2021) 1 - p. 111 , 2021

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

5

Biallelic truncating variants in MAPKAPK5 cause a new devel..:

Horn, Denise ; Fernández-Núñez, Elisa ; Gomez-Carmona, Ricardo...
Genetics in Medicine. 23 (2021) 4 - p. 679-688 , 2021

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

6

Using Online Mendelian Inheritance in Man in low‐ and middl..:

de Macena Sobreira, Nara Lygia ; Repetto, Gabriela M. ; Temtamy, Samia A..
American Journal of Medical Genetics Part A. 185 (2021) 11 - p. 3284-3286 , 2021

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

7

Chromosome 9p terminal deletion in nine Egyptian patients a..:

Mohamed, Amal M. ; Kamel, Alaa K. ; Eid, Maha M....
Molecular Genetics & Genomic Medicine. 9 (2021) 11 - p. , 2021

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

8

Blepharophimosis‐ptosis‐intellectual disability syndrome: A..:

Zaki, Maha S. ; Otaify, Ghada A. ; Ismail, Samira...
American Journal of Medical Genetics Part A. 182 (2020) 12 - p. 2857-2866 , 2020

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

9

Microcephalic osteodysplastic primordial dwarfism type II: ..:

Abdel‐Salam, Ghada M. H. ; Sayed, Inas S. M. ; Afifi, Hanan H....
American Journal of Medical Genetics Part A. 182 (2020) 6 - p. 1407-1420 , 2020

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

10

Cellular stress due to impairment of collagen prolyl hydrox..:

Besio, Roberta ; Garibaldi, Nadia ; Leoni, Laura...
Disease Models & Mechanisms. 12 (2019) 6 - p. , 2019

Link: https://doi.org/10.1242/..

11

Heterozygous pathogenic variants inGLI1are a common finding..:

Palencia‐Campos, Adrián ; Martínez‐Fernández, María‐Luisa ; Altunoglu, Umut...
Human Mutation. 41 (2019) 1 - p. 265-276 , 2019

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

12

Recessive mutations in muscle-specific isoforms of FXR1 cau..:

Estañ, María Cristina ; Fernández-Núñez, Elisa ; Zaki, Maha S....
Nature Communications. 10 (2019) 1 - p. , 2019

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

13

GAPO syndrome in seven new patients: Identification of five..:

Abdel‐Hamid, Mohamed S. ; Ismail, Samira ; Zaki, Maha S....
American Journal of Medical Genetics Part A. 179 (2018) 2 - p. 237-242 , 2018

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

14

Phenotypic and molecular insights into PQBP1‐related intell..:

Abdel‐Salam, Ghada M. H. ; Miyake, Noriko ; Abdel‐Hamid, Mohamed S....
American Journal of Medical Genetics Part A. 176 (2018) 11 - p. 2446-2450 , 2018

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

15

Cytoskeleton and nuclear lamina affection in recessive oste..:

Gagliardi, Assunta ; Besio, Roberta ; Carnemolla, Chiara...
Journal of Proteomics. 167 (2017) - p. 46-59 , 2017

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