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Otaify, Ghada A.
50
results:
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Online (50)
Mediatypes
Articles (Online) (25)
OpenAccess-fulltext (25)
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1
CHST3‐related skeletal dysplasia in 14 patients: Identifica..:
Otaify, Ghada A.
;
Elhossini, Rasha M.
;
Abdel‐Ghafar, Sherif F.
...
American Journal of Medical Genetics Part A. 191 (2023) 8 - p. 2100-2112 , 2023
Link:
https://doi.org/10.1002/..
?
2
Bruck syndrome in 13 new patients: Identification of five n..:
Otaify, Ghada A.
;
Abdel‐Hamid, Mohamed S.
;
Hassib, Nehal F.
...
American Journal of Medical Genetics Part A. 188 (2022) 6 - p. 1815-1825 , 2022
Link:
https://doi.org/10.1002/..
?
3
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/..
?
4
Osteoporosis-pseudoglioma syndrome in four new patients: id..:
Abdel-Hamid, Mohamed S.
;
Elhossini, Rasha M.
;
Otaify, Ghada A.
..
Osteoporosis International. 33 (2022) 7 - p. 1501-1510 , 2022
Link:
https://doi.org/10.1007/..
?
5
Two new patients with focal dermal hypoplasia: A novel PORC..:
Elhossini, Rasha Moheb
;
Abdel‐Hamid, Mohamed S.
;
Ashaat, Engy
...
Congenital Anomalies. 62 (2022) 2 - p. 68-77 , 2022
Link:
https://doi.org/10.1111/..
?
6
Mutations in SCNM1 cause orofaciodigital syndrome due to mi..:
Iturrate, Asier
;
Rivera-Barahona, Ana
;
Flores, Carmen-Lisset
...
The American Journal of Human Genetics. 109 (2022) 10 - p. 1828-1849 , 2022
Link:
https://doi.org/10.1016/..
?
7
A novel variant in GNPNAT1 gene causing a spondylo‐epi‐meta..:
Elhossini, Rasha Moheb
;
Ahmed, Hoda Abdalla
;
Otaify, Ghada
...
American Journal of Medical Genetics Part A. 188 (2022) 10 - p. 2861-2868 , 2022
Link:
https://doi.org/10.1002/..
?
8
Shohat type-spondyloepimetaphyseal dysplasia: Further pheno..:
Otaify, Ghada A.
;
Al Baluki, Wafa
;
Al-Rashdi, Samiya
.
European Journal of Medical Genetics. 65 (2022) 12 - p. 104640 , 2022
Link:
https://doi.org/10.1016/..
?
9
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/..
?
10
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/..
?
11
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/..
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12
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/..
?
13
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/..
?
14
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/..
?
15
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/..
1-15