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Essawi, Mona L.
32  Ergebnisse:
Personensuche X
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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8

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/..
 
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9

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/..
 
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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/..
 
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11

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/..
 
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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/..
 
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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/..
 
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14

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/..
 
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15

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/..
 
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