Geothermal sweetspots identified in a volcanic lake integrating bathymetry and fluid chemistry

por Brehme, Maren, Giese, Ronny, Suherlina, Lily, Kamah, Yustin
Publicado 2019

Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine‐responsive megaloblastic anemia in an Egyptian family

por Amr, Khalda, Pawlikowska, Patrycja, Aoufouchi, Said, Rosselli, Filippo, El‐Kamah, Ghada
Publicado 2019

Defining the molecular pathology and consequent phenotypes in Egyptian HB patients

por El-Kamah, Ghada Y., Mosaad, Rehab M., Taher, Mohamed B., Amr, Khalda S.
Publicado 2021

Isolation, Characterization and Antitumour Propirties of the 1,2-Popylenediaminetetraacetate trans-Diaqua-Copper (II)

por Kamah, S., Vilaplana, R., Moreno, J., Akdi, K., García-Herdugo, G., González-Vílchez, F.
Publicado 2000

Direct Crosstalk Between O-GlcNAcylation and Phosphorylation of Tau Protein Investigated by NMR Spectroscopy

por Bourré, Gwendoline, Cantrelle, François-Xavier, Kamah, Amina, Chambraud, Béatrice, Landrieu, Isabelle, Smet-Nocca, Caroline
Publicado 2018

Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins

por Rabie, Eman, Amr, Khalda, Zada, Suher, El-Sayed, Heba, El Darouti, Mohamad, El-Kamah, Ghada
Publicado 2021

Epigenetic effects toward new insights as potential therapeutic target in B-thalassemia

por Eltaweel, Noha Hamdy, ElKamah, Ghada Youssef, Khairat, Rabab, Atia, Hanan Abd Elmawgoud, Amr, Khalda S.
Publicado 2021

Concise Review: Getting to the Core of Inherited Bone Marrow Failures

por Adam, Soheir, Melguizo Sanchis, Dario, El‐Kamah, Ghada, Samarasinghe, Sujith, Alharthi, Sameer, Armstrong, Lyle, Lako, Majlinda
Publicado 2016

Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families

por El-Kamah, Ghada Y., Mehrez, Mennat I., Taher, Mohamed B., El-Bassyouni, Hala T., Gaber, Khaled R., Amr, Khalda S.
Publicado 2023

Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients

por Mosaad, Rehab M., Amr, Khalda S., Rabie, Eman A., Mostafa, Naglaa O., Habib, Sonia A., El‐Kamah, Ghada Y.
Publicado 2020

Influence of urbanisation on phytodiversity and some soil properties in riverine wetlands of Bamenda municipality, Cameroon

por Asongwe, Godswill A., Bame, Irene B., Ndam, Lawrence M., Orock, Ayuk E., Tellen, Valantine A., Bumtu, Kamah P., Tening, Aaron S.
Publicado 2022

An extended dsRBD is required for post-transcriptional modification in human tRNAs

por Bou-Nader, Charles, Pecqueur, Ludovic, Bregeon, Damien, Kamah, Amina, Guérineau, Vincent, Golinelli-Pimpaneau, Béatrice, Guimarães, Beatriz G., Fontecave, Marc, Hamdane, Djemel
Publicado 2015

Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease

por Sayed Amr, Khalda, El-Bassyouni, Hala T., Abdel Hady, Sawsan, Mostafa, Mostafa I., Mehrez, Mennat I., Coviello, Domenico, El-Kamah, Ghada Y.
Publicado 2021

Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1

por N. Abdel‐Aziz, Nahla, Y. El‐Kamah, Ghada, A. Khairat, Rabab, R. Mohamed, Hanan, Z. Gad, Yehia, El‐Ghor, Akmal M., Amr, Khalda S.
Publicado 2021

Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity

por Rabie, Eman A., Sayed, Inas S. M., Amr, Khalda, Ahmed, Hoda A., Mostafa, Mostafa I., Hassib, Nehal F., El-Sayed, Heba, Zada, Suher K., El-Kamah, Ghada
Publicado 2022

Correlating SFTPC gene variants to interstitial lung disease in Egyptian children

por Abdel Megeid, Azza K., Refeat, Miral M., Ashaat, Engy A., El-Kamah, Ghada, El-Saiedi, Sonia A., Elfalaki, Mona M., El Ruby, Mona O., Amr, Khalda S.
Publicado 2022

Correction: Correlating SFTPC gene variants to interstitial lung disease in Egyptian children

por Abdel Megeid, Azza K., Refeat, Miral M., Ashaat, Engy A., El-Kamah, Ghada, El-Saiedi, Sonia A., Elfalaki, Mona M., El Ruby, Mona O., Amr, Khalda S.
Publicado 2022

“Black Lives Matter and Black Research Matters”: the African Society of Human Genetics’ call to halt racism in science

por Wonkam, Ambroise, Bardien, Soraya, Diallo, Rokhaya Ndiaye, Gaye, Amadou, Alimohamed, Mohamed Zahir, Kya, Siana, Makani, Julie, Landoure, Guida, Mutesa, Leon, El-Kamah, Ghada, Mohamed, Amal, Newport, Melanie, Williams, Scott M., Ramsay, Michele, Nembaware, Victoria
Publicado 2022

Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patients

por Sokkar, Mona F., Hamdy, Mona, Erian, Peter SF, Mosaad, Rehab M., Elaraby, Nesma M., Taher, Mohamed B., El-Sayed, Heba, Al Komy, Mohammed, Eid, Maha M., Mohamed, Amal M., Amr, Khalda S., El-Kamah, Ghada Y.
Publicado 2023

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations

por Ahmed, Hoda A., El-Kamah, Ghada Y., Rabie, Eman, Mostafa, Mostafa I., Abouzaid, Maha R., Hassib, Nehal F., Mehrez, Mennat I., Abdel-Kader, Mohamed A., Mohsen, Yasmine H., Zada, Suher K., Amr, Khalda S., Sayed, Inas S. M.
Publicado 2021