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Elhossini, Rasha M.
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results:
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Online
Mediatypes
Articles (Online)
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1
Brachyolmia, dental anomalies and short stature (DASS): Phe..:
Nawaz, Hamed
;
Parveen, Asia
;
Khan, Sher Alam
...
Heliyon. 10 (2024) 1 - p. e23688 , 2024
Link:
https://doi.org/10.1016/..
?
2
Spondyloenchondrodysplasia in five new patients: identifica..:
Elhossini, Rasha M.
;
Elbendary, Hasnaa M.
;
Rafat, Karima
..
Molecular Genetics and Genomics. 298 (2023) 3 - p. 709-720 , 2023
Link:
https://doi.org/10.1007/..
?
3
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/..
?
4
The Diagnostic Value of Whole-Exome Sequencing in a Spectru..:
Ashaat, Engy A.
;
Ahmed, Hoda A.
;
Elaraby, Nesma M.
...
Molecular Neurobiology. , 2023
Link:
https://doi.org/10.1007/..
?
5
A recurrent KCNK4 variant in a dominant pedigree with hyper..:
Elhossini, Rasha M.
;
Sayed, Inas M.
;
Hellal, Usama Saad
...
American Journal of Medical Genetics Part A. 194 (2023) 1 - p. 39-45 , 2023
Link:
https://doi.org/10.1002/..
?
6
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/..
?
7
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/..
?
8
Spondyloenchondrodysplasia in five new patients: identifica..:
Elhossini, Rasha M
;
Elbendary, Hasnaa M
;
Rafat, Karima
..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10133048/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
9
Brachyolmia, dental anomalies and short stature (DASS): Phe..:
Nawaz, Hamed
;
Parveen, Asia
;
Khan, Sher Alam
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10772639/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
10
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/..
?
11
Novel LSS variants in alopecia and intellectual disability ..:
Elbendary, Hasnaa M.
;
Marafi, Dana
;
Saad, Ahmed K.
...
Clinical Genetics. 104 (2023) 3 - p. 344-349 , 2023
Link:
https://doi.org/10.1111/..
?
12
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/..
?
13
Brachyolmia, dental anomalies and short stature (DASS): Phe..:
Hamed Nawaz
;
Asia Parveen
;
Sher Alam Khan
...
http://www.sciencedirect.com/science/article/pii/S2405844023108966. , 1481
Link:
https://doi.org/10.1016/..
?
14
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/..
?
15
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/..
1-15