Works by Rafat, Karima

Results: 11

ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-06857-2

By:

Rafat, Karima;
Abdel-Aleem, Asmaa F.;
Elbendary, Hasnaa M.;
Issa, Mahmoud Y.;
Essawi, Mona L.;
Abdel-Ghafar, Sherif F.;
Abdel-Salam, Ghada M. H.;
Abdel-Hamid, Mohamed S.;
Zaki, Maha S.

Publication type:

Article

A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.

Published in:

Neurological Sciences, 2021, v. 42, n. 7, p. 2737, doi. 10.1007/s10072-020-04843-2

By:

Zaki, Maha S.;
Issa, Mahmoud Y.;
Thomas, Manal M.;
Elbendary, Hasnaa M.;
Rafat, Karima;
Al Menabawy, Nihal M.;
Selim, Laila A.;
Ismail, Samira;
Abdel-Salam, Ghada M.;
Gleeson, Joseph G.

Publication type:

Article

The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.

Published in:

Clinical Genetics, 2024, v. 105, n. 5, p. 510, doi. 10.1111/cge.14481

By:

Elkhateeb, Nour;
Issa, Mahmoud Y.;
Elbendary, Hasnaa M.;
Elnaggar, Walaa;
Ramadan, Areef;
Rafat, Karima;
Kamel, Mona;
Abdel‐Ghafar, Sherif F.;
Amer, Fawzia;
Hassaan, Hebatallah M.;
Trunzo, Roberta;
Pereira, Catarina;
Abdel‐Hamid, Mohamed S.;
D'Arco, Felice;
Bauer, Peter;
Bertoli‐Avella, Aida M.;
Girgis, Marian;
Gleeson, Joseph G.;
Zaki, Maha S.;
Selim, Laila

Publication type:

Article

Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS‐related rare disease traits.

Published in:

Clinical Genetics, 2023, v. 104, n. 3, p. 344, doi. 10.1111/cge.14348

By:

Elbendary, Hasnaa M.;
Marafi, Dana;
Saad, Ahmed K.;
Elhossini, Rasha;
Duan, Ruizhi;
Rafat, Karima;
Jhangiani, Shalini N.;
Gibbs, Richard A.;
Pehlivan, Davut;
Calame, Daniel G.;
Posey, Jennifer E.;
Lupski, James R.;
Zaki, Maha S.

Publication type:

Article

Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS.

Published in:

Clinical Genetics, 2023, v. 104, n. 2, p. 238, doi. 10.1111/cge.14338

By:

Zaki, Maha S.;
Sharaf‐Eldin, Wessam E.;
Rafat, Karima;
Elbendary, Hasnaa M.;
Kamel, Mona;
Elkhateeb, Nour;
Noureldeen, Mahmoud M.;
Abdeltawab, Mohamed A.;
Sadek, Abdelrahim A.;
Essawi, Mona L.;
Lau, Tracy;
Murphy, David;
Abdel‐Hamid, Mohamed S.;
Holuden, Henry;
Issa, Mahmoud Y.;
Gleeson, Joseph G.

Publication type:

Article

Registry of ocular anomalies among patients with genetic disorders attending the clinical genetics department at the National Research Center in Egypt.

Published in:

Ophthalmic Genetics, 2017, v. 38, n. 5, p. 418, doi. 10.1080/13816810.2016.1247460

By:

Eid, Ola M.;
Abdel Hady, Sawsan;
El-Kotoury, Ahmed;
Said, Khalda A.;
Rafat, Karima;
El-Bassyouni, Hala T.

Publication type:

Article

Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability.

Published in:

Molecular Syndromology, 2023, v. 14, n. 6, p. 523, doi. 10.1159/000531715

By:

Rafat, Karima;
Abdel-Hamid, Mohamed S.;
Abdel-Salam, Ghada M.H.

Publication type:

Article

Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations.

Published in:

Molecular Genetics & Genomics, 2023, v. 298, n. 3, p. 709, doi. 10.1007/s00438-023-02009-1

By:

Elhossini, Rasha M.;
Elbendary, Hasnaa M.;
Rafat, Karima;
Ghorab, Raghda M.;
Abdel-Hamid, Mohamed S.

Publication type:

Article

Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1288, doi. 10.1002/ajmg.a.62100

By:

Saad, Ahmed K.;
Maraf, Dana;
Mitani, Tadahiro;
Du, Haowei;
Rafat, Karima;
Fatih, Jawid M.;
Jhangiani, Shalini N.;
Coban-Akdemir, Zeynep;
Gibbs, Richard A.;
Pehlivan, Davut;
Hunter, Jill V.;
Posey, Jennifer E.;
Zaki, Maha S.;
Lupski, James R.

Publication type:

Article

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-02031-6

By:

Noureldeen, Mahmoud M.;
Zaki, Maha S.;
Rafat, Karima;
Abdel-Hamid, Mohamed S.;
Salem, Aida M. S.

Publication type:

Article

Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.

Published in:

Journal of Molecular Neuroscience, 2024, v. 74, n. 4, p. 1, doi. 10.1007/s12031-024-02266-8

By:

Sharaf-Eldin, Wessam E.;
Rafat, Karima;
Issa, Mahmoud Y.;
Elbendary, Hasnaa M.;
Eissa, Noura R.;
Hawaary, Bahaa;
Gaboon, Nagwa E. A.;
Maroofian, Reza;
Gleeson, Joseph G.;
Essawi, Mona L.;
Zaki, Maha S.

Publication type:

Article