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Essawi, Mona L.
32
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Online (32)
Mediatypes
Articles (Online) (22)
OpenAccess-fulltext (10)
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1
Expanding the phenotypic spectrum of LHCGR signal peptide i..:
Hassan, Heba Amin
;
Mazen, Inas
;
Elaidy, Aya
...
Hormones. 23 (2024) 2 - p. 305-312 , 2024
Link:
https://doi.org/10.1007/..
?
2
Clinical and molecular spectrum of a large Egyptian cohort ..:
Zaki, Maha S.
;
Sharaf‐Eldin, Wessam E.
;
Rafat, Karima
...
Clinical Genetics. 104 (2023) 2 - p. 238-244 , 2023
Link:
https://doi.org/10.1111/..
?
3
MLPA analysis for molecular diagnosis of spinal muscular at..:
Hassan, Heba A.
;
Fahmy, Nagia A.
;
El-Bagoury, Nagham M.
...
Egyptian Journal of Medical Human Genetics. 23 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
?
4
Molecular study of Pompe disease in Egyptian infants:
Essawi, Mona
;
ElBagoury, Nagham
;
Ashaat, Engy
..
Egyptian Journal of Medical Human Genetics. 22 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1186/..
?
5
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/..
?
6
Advances in genomic diagnosis of a large cohort of Egyptian..:
Mazen, Inas
;
Mekkawy, Mona
;
Kamel, Alaa
...
American Journal of Medical Genetics Part A. 185 (2021) 6 - p. 1666-1677 , 2021
Link:
https://doi.org/10.1002/..
?
7
Variants in the NPC1 Gene in Egyptian Patients with Niemann..:
Essawi, Mona L.
;
Abdel-aleem, Asmaa F.
;
Badawy, Mohamed A.
...
Open Access Macedonian Journal of Medical Sciences. 8 (2020) A - p. 134-145 , 2020
Link:
https://doi.org/10.3889/..
?
8
Biochemical Analysis of Four Missense Mutations in the HSD1..:
Engeli, Roger T.
;
Tsachaki, Maria
;
Hassan, Heba A.
...
The Journal of Sexual Medicine. 14 (2017) 9 - p. 1165-1174 , 2017
Link:
https://doi.org/10.1016/..
?
9
Four novel mutations in the N-acetylgalactosamine-6-sulfate..:
Fateen, Ekram M.
;
El Mawgoud, Hanan Abd
;
Eissa, Noura R.
...
Gene. 600 (2017) - p. 48-54 , 2017
Link:
https://doi.org/10.1016/..
?
10
Case report: Homozygous PRRT2 mutation in ICCA Egyptian fam..:
Kishk, Nirmeen A.
;
Sharaf-Eldin, Wessam E.
;
Saher, Heba
.
Meta Gene. 11 (2017) - p. 104-107 , 2017
Link:
https://doi.org/10.1016/..
?
11
Extracellular miR-145, miR-223 and miR-326 expression signa..:
Sharaf-Eldin, Wessam E.
;
Kishk, Nirmeen A.
;
Gad, Yehia Z.
...
Journal of the Neurological Sciences. 383 (2017) - p. 188-198 , 2017
Link:
https://doi.org/10.1016/..
?
12
Circulating miRNAs 21 and 221 as biomarkers for early diagn..:
Kotb, Sameh
;
Mosharafa, Ashraf
;
Essawi, Mona
...
Tumor Biology. 35 (2014) 12 - p. 12613-12617 , 2014
Link:
https://doi.org/10.1007/..
?
13
Mutational analysis of the PTPN11 gene in Egyptian patients..:
Essawi, Mona L.
;
Ismail, Manal F.
;
Afifi, Hanan H.
...
Journal of the Formosan Medical Association. 112 (2013) 11 - p. 707-712 , 2013
Link:
https://doi.org/10.1016/..
?
14
Isodicentric Y chromosomes in Egyptian patients with disord..:
Mekkawy, Mona
;
Kamel, Alaa
;
El‐Ruby, Mona
...
American Journal of Medical Genetics Part A. 158A (2012) 7 - p. 1594-1603 , 2012
Link:
https://doi.org/10.1002/..
?
15
Molecular prenatal diagnosis of autosomal recessive childho..:
Essawi, Mona L.
;
Al-Attribi, Ghada M.
;
Gaber, Khaled R.
.
Gene. 509 (2012) 1 - p. 120-123 , 2012
Link:
https://doi.org/10.1016/..
1-15