Publications by authors named "Samira Ismail"

Claim this Profile
P
PCSK9 Involvement in Autism Etiology: Sequence Variations, Protein Concentration, and Promoter Methylation.
Sohair Salem, Rehab Mosaad, Randa Lotfy, Engy Ashaat, Samira Ismail

Arch Med Res· September 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.
Rabab Khairat, Rasha Elhossini, Nara Sobreira, Elizabeth Wohler, Ghada Otaify, Samira Ismail

Eur J Med Genet· January 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous Mutations.
Manal M Thomas, Engy A Ashaat, Ghada A Otaify, Samira Ismail, Mona L Essawi

Mol Syndromol· August 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.
Maha S Zaki, Mahmoud Y Issa, Manal M Thomas, Hasnaa M Elbendary, Karima Rafat, Samira Ismail

Neurol Sci· July 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature.
Mona K Mekkawy, Alaa K Kamel, Manal M Thomas, Engy A Ashaat, Maha S Zaki, Samira Ismail

Mol Genet Genomic Med· February 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.
Maha S Zaki, Ghada A Otaify, Samira Ismail, Mahmoud Y Issa, Mona O El-Ruby

Am J Med Genet A· December 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.
Sateesh Maddirevula, Hanan E Shamseldin, Amy Sirr, Lama AlAbdi, Russell S Lo, Samira Ismail

Front Genet· December 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Adrian Palencia-Campos, Phillip C Aoto, Erik M F Machal, Ana Rivera-Barahona, Patricia Soto-Bielicka, Samira Ismail

Am J Hum Genet· November 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
Ghada M H Abdel-Salam, Inas S M Sayed, Hanan H Afifi, Sherif F Abdel-Ghafar, Maha R Abouzaid, Samira I Ismail

Am J Med Genet A· June 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The potential impact of COMT gene variants on dopamine regulation and phenotypic traits of ASD patients.
Nora N Esmaiel, Engy A Ashaat, Rehab Mosaad, Alaaeldin Fayez, Mona Ibrahim, Samira Ismail

Behav Brain Res· January 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.
Khalda Amr, Hala T El-Bassyouni, Samira Ismail, Eman Youness, Sherien M El-Daly

Arch Dermatol Res· November 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Study of C677T variant of methylene tetrahydrofolate reductase gene in autistic spectrum disorder Egyptian children.
Samira Ismail, Azza Abo Senna, Eman G Behiry, Engy A Ashaat, Maha S Zaki

Am J Med Genet B Neuropsychiatr Genet· July 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.
Mohamed S Abdel-Hamid, Samira Ismail, Maha S Zaki, Ghada M H Abdel-Salam, Ghada A Otaify

Am J Med Genet A· February 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Expanding the phenome and variome of skeletal dysplasia.
Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, Nisha Patel, Fatema Alzahrani, Samira Ismail

Genet Med· December 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Phenotypic and molecular insights into PQBP1-related intellectual disability.
Ghada M H Abdel-Salam, Noriko Miyake, Mohamed S Abdel-Hamid, Inas S M Sayed, Mohamed I Gadelhak, Samira I Ismail

Am J Med Genet A· November 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Nuria C Bramswig, Aida M Bertoli-Avella, Beate Albrecht, Aida I Al Aqeel, Amal Alhashem, Samira Ismail

Hum Genet· September 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Samira I Ismail, Heba Hosny, Tarek Omar

Metab Brain Dis· October 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.
Maha S Zaki, Laila Selim, Hala T El-Bassyouni, Mahmoud Y Issa, Iman Mahmoud, Samira Ismail

Eur J Paediatr Neurol· September 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.
Hongda Li, Stephanie L Bielas, Maha S Zaki, Samira Ismail, Dorit Farfara

Am J Hum Genet· August 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.
Mona Aglan, Khalda Amr, Samira Ismail, Adel Ashour, Ghada A Otaify

Am J Med Genet A· December 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism.
Ranad Shaheen, Ghada M H Abdel-Salam, Michael P Guy, Rana Alomar, Mohamed S Abdel-Hamid, Samira I Ismail

Genome Biol· September 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Naiara Akizu, Vincent Cantagrel, Maha S Zaki, Lihadh Al-Gazali, Xin Wang, Samira Ismail

Nat Genet· May 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene.
Inas Mazen, Samira Ismail, Khalda Amr, Mona El Gammal, Mohamed Abdel-Hamid

J Pediatr Endocrinol Metab· September 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetic variants of neurotransmitter-related genes and miRNAs in Egyptian autistic patients.
Ahmed M Salem, Samira Ismail, Waheba A Zarouk, Olwya Abdul Baky, Ahmed A Sayed

ScientificWorldJournal· June 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.
Samira Ismail, Ashleigh E Schaffer, Rasim O Rosti, Joseph G Gleeson, Maha S Zaki

Gene· April 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis