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Nabil, Amira
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1

A report of two homozygous TERB1 protein-truncating variant..:

Yalcin, Zeynep ; Liang, Manqi ; Abdelrazek, Ibrahim M....
Journal of Assisted Reproduction and Genetics.  41 (2024)  3 - p. 751-756 , 2024
Link: https://doi.org/10.1007/..
 
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2

Diagnostic implications of pitfalls in causal variant ident..:

AlAbdi, Lama ; Maddirevula, Sateesh ; Shamseldin, Hanan E....
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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3

Genomics in Egypt: Current Status and Future Aspects:

El-Attar, Eman Ahmed ; Helmy Elkaffas, Rasha Mohamed ; Aglan, Sarah Ahmed...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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4

Genetic analysis of CFH and MCP in Egyptian patients with i..:

Gouda, Heba R. ; Talaat, Iman M. ; Bouzid, Amal...
Frontiers in Immunology.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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5

Two Decades after Mandibuloacral Dysplasia Discovery: Addit..:

Jéru, Isabelle ; Nabil, Amira ; El-Makkawy, Gehad...
Genes.  12 (2021)  10 - p. 1508 , 2021
Link: https://doi.org/10.3390/..
 
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6

Hoarse voice in children as the presenting feature of ECM1‐..:

Patel, Nisha ; Nabil, Amira ; Alshammari, Muneera.
American Journal of Medical Genetics Part A.  185 (2021)  12 - p. 3924-3925 , 2021
Link: https://doi.org/10.1002/..
 
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7

Lethal variants in humans: lessons learned from a large mol..:

Shamseldin, Hanan E. ; AlAbdi, Lama ; Maddirevula, Sateesh...
Genome Medicine.  13 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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8

A familial PLCB4 mutation causing auriculocondylar syndrome..:

Nabil, Amira ; El Shafei, Sahar ; El Shakankiri, Nihal M....
European Journal of Medical Genetics.  63 (2020)  6 - p. 103917 , 2020
Link: https://doi.org/10.1016/..
 
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9

Bi-allelic GAD1 variants cause a neonatal onset syndromic d..:

Poulat, Anne-Lise ; de Bellescize, Julitta ; Sanlaville, Damien...
Brain.  143 (2020)  5 - p. 1447-1461 , 2020
Link: https://doi.org/10.1093/..
 
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10

Tunneling FET Calibration Issues: Sentaurus vs. Silvaco TCA:

Nabil, Amira ; Shaker, Ahmed ; Abouelatta, Mohamed..
Journal of Physics: Conference Series.  1710 (2020)  1 - p. 012003 , 2020
Link: https://doi.org/10.1088/..
 
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11

Electrical modeling of tapered TSV including MOS-Field effe..:

Nabil, Amira ; Bernardo, Jose A. ; Ma, Yue...
Microelectronics Journal.  100 (2020)  - p. 104797 , 2020
Link: https://doi.org/10.1016/..
 
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12

Expanding the phenome and variome of skeletal dysplasia:

Maddirevula, Sateesh ; Alsahli, Saud ; Alhabeeb, Lamees...
Genetics in Medicine.  20 (2018)  12 - p. 1609-1616 , 2018
Link: https://doi.org/10.1038/..
 
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13

Partial association of restriction polymorphism of the liga..:

Hessien, Mohamed ; El Barbary, Ahmed ; el Gendy, Saad.
Egyptian Journal of Medical Human Genetics.  17 (2016)  2 - p. 223-228 , 2016
Link: https://doi.org/10.1016/..
 
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14

Joint laxity in homozygotes for severe POU1F1 mutations:

Shamseldin, Hanan E. ; Maddirevula, Sateesh ; Nabil, Amira...
American Journal of Medical Genetics Part A.  170 (2016)  12 - p. 3356-3358 , 2016
Link: https://doi.org/10.1002/..
 
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15

On the phenotypic spectrum of serine biosynthesis defects:

El‐Hattab, Ayman W. ; Shaheen, Ranad ; Hertecant, Jozef...
Journal of Inherited Metabolic Disease.  39 (2016)  3 - p. 373-381 , 2016
Link: https://doi.org/10.1007/..
 
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