Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation av Sahar Sabry, Noura R. Eissa, Maha S. Zaki

Hämta fulltext

Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients av Wessam E. Sharaf-Eldin, Mahmoud Y. Issa, Maha S. Zaki, Ayman Kilany, Alaaeldin G. Fayez

Hämta fulltext

Quality indicators and patients' characteristics in relation to early outcome of Kasr-al-ainy stroke unit av Maha Atef Zaki, Ahmed Mohamed Abdelalim, Husam Salah Mourad, Abdallah Adel Saad, Amr Mohamed Fouad

Hämta fulltext

Contrast enhanced FLAIR versus contrast enhanced T1W images in evaluation of intraparenchymal brain lesions av Mohamed Ali EL-Adalany, Maha Mohamed Zaki Bilal, Yomna Abdulwahab Mohmamed Rihan, Dina EL-Metwally

Hämta fulltext

Is trofinetide a future treatment for Rett syndrome? A comprehensive systematic review and meta-analysis of randomized controlled trials av Hazem E. Mohammed, Zeyad Bady, Mohamed E. Haseeb, Heba Aboeldahab, Wessam E. Sharaf-Eldin, Maha S. Zaki

Hämta fulltext

Genetic pattern of SMN1, SMN2, and NAIP genes in prognosis of SMA patients av Heba Amin Hassan, Maha Saad Zaki, Mahmoud Yousry Issa, Nagham Maher El-Bagoury, Mona Lotfi Essawi

Hämta fulltext

Early ophthalmic findings in joubert syndrome av Amira A Abdelazeem, Olfat A Hassanin, Amal A Elgohary, Maha S Zaki, Amany H Galal, Joseph G Gleeson

Hämta fulltext

Seizure control during pregnancy and postpartum period in women with epilepsy: an Egyptian prospective study av Hassan Hosny, Manal Mahmoud Al Kattan, Maha A. Zaki, Gihan M. Ramzy, Salsabil Abo Al-Azayem, Rehab Magdy

Hämta fulltext

N- and O-glycan analysis for the detection of glycosylation disorders av Amr Sobhi Gouda, Azza Fahmy Elbaz, Thierry Dupré, Ola Sayed Mohamed Ali, Maha Saad Zaki, Ekram Maher Fateen

Hämta fulltext

Multiple sclerosis and fecundity: a study of anti-mullerian hormone level in Egyptian patients av Maha Atef Zaki, Gihan Ramzy, Samah Ali, Sahar Abdelatty Sharaf, Mohamed I. Hegazy, Emad Mostafa, Ibrahim Fawzy, Lobna El-Ghoneimy

Hämta fulltext

MLPA analysis for molecular diagnosis of spinal muscular atrophy and correlation of 5q13.2 genes with disease phenotype in Egyptian patients av Heba A. Hassan, Nagia A. Fahmy, Nagham M. El-Bagoury, Noura R. Eissa, Wessam E. Sharaf-Eldin, Mahmoud Y. Issa, Maha S. Zaki, Mona L. Essawi

Hämta fulltext

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities av Simo Li, Sanami Takada, Ghada M. H. Abdel-Salam, Mohamed S. Abdel-Hamid, Maha S. Zaki, Mahmoud Y. Issa, Aida M. S. Salem, Eriko Koshimizu, Atsushi Fujita, Ryoko Fukai, Toshio Ohshima, Naomichi Matsumoto, Noriko Miyake

Hämta fulltext

Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families av Mahmoud Y. Issa, Zinayida Chechlacz, Valentina Stanley, Renee D. George, Jennifer McEvoy-Venneri, Denice Belandres, Hasnaa M. Elbendary, Khaled R. Gaber, Ahmed Nabil, Mohamed S. Abdel-Hamid, Maha S. Zaki, Joseph G. Gleeson

Hämta fulltext

Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature av Mona K. Mekkawy, Alaa K. Kamel, Manal M. Thomas, Engy A. Ashaat, Maha S. Zaki, Ola M. Eid, Samira Ismail, Saida A. Hammad, Hisham Megahed, Heba ElAwady, Khaled M. Refaat, Shymaa Hussien, Nivine Helmy, Sally G. Abd Allah, Amal M. Mohamed, Mona O. El Ruby

Hämta fulltext

GGPS1‐associated muscular dystrophy with and without hearing loss av Rauan Kaiyrzhanov, Luke Perry, Clarissa Rocca, Maha S. Zaki, Heba Hosny, Cristiane Araujo Martins Moreno, Rahul Phadke, Irina Zaharieva, Clara Camelo Gontijo, Christian Beetz, Veronica Pini, Mojtaba Movahedinia, Edmar Zanoteli, Stephanie DiTroia, Sandrine Vuillaumier‐Barrot, Arnaud Isapof, Mohammad Yahya Vahidi Mehrjardi, Nasrin Ghasemi, Anna Sarkozy, Francesco Muntoni, Sandra Whalen, Barbara Vona, Henry Houlden, Reza Maroofian

Hämta fulltext

Biallelic loss of EMC10 leads to mild to severe intellectual disability av Rauan Kaiyrzhanov, Clarissa Rocca, Mohnish Suri, Sughra Gulieva, Maha S. Zaki, Noa Z. Henig, Karine Siquier, Ulviyya Guliyeva, Samir M. Mounir, Daphna Marom, Aynur Allahverdiyeva, Hisham Megahed, Hans vanBokhoven, Vincent Cantagrel, Aboulfazl Rad, Alemeh Pourkeramti, Boshra Dehghani, Diane D. Shao, Keren Markus‐Bustani, Efrat Sofrin‐Drucker, Naama Orenstein, Kamran Salayev, Filippo Arrigoni, Henry Houlden, Reza Maroofian

Hämta fulltext

Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly av Amal M. Mohamed, Alaa K. Kamel, Maha M. Eid, Ola M. Eid, Mona Mekkawy, Shymaa H. Hussein, Maha S. Zaki, Samira Esmail, Hanan H. Afifi, Ghada Y. El‐Kamah, Ghada A. Otaify, Heba Ahmed El‐Awady, Aya Elaidy, Mahmoud Y. Essa, Mona El‐Ruby, Engy A. Ashaat, Saida A. Hammad, Inas Mazen, Ghada M. H. Abdel‐Salam, Mona Aglan, Samia Temtamy

Hämta fulltext

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy av Jennifer Friedman, Desiree E. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing-Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek E. I. Omar, Tawfeg Ben-Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson

Hämta fulltext

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia av Ekin Ucuncu, Karthyayani Rajamani, Miranda S. C. Wilson, Daniel Medina-Cano, Nami Altin, Pierre David, Giulia Barcia, Nathalie Lefort, Céline Banal, Marie-Thérèse Vasilache-Dangles, Gaële Pitelet, Elsa Lorino, Nathalie Rabasse, Eric Bieth, Maha S. Zaki, Meral Topcu, Fatma Mujgan Sonmez, Damir Musaev, Valentina Stanley, Christine Bole-Feysot, Patrick Nitschké, Arnold Munnich, Nadia Bahi-Buisson, Catherine Fossoud, Fabienne Giuliano, Laurence Colleaux, Lydie Burglen, Joseph G. Gleeson, Nathalie Boddaert, Adolfo Saiardi, Vincent Cantagrel

Hämta fulltext

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy av María Cristina Estañ, Elisa Fernández-Núñez, Maha S. Zaki, María Isabel Esteban, Sandra Donkervoort, Cynthia Hawkins, José A. Caparros-Martin, Dimah Saade, Ying Hu, Véronique Bolduc, Katherine Ru-Yui Chao, Julián Nevado, Ana Lamuedra, Raquel Largo, Gabriel Herrero-Beaumont, Javier Regadera, Concepción Hernandez-Chico, Eduardo F. Tizzano, Victor Martinez-Glez, Jaime J. Carvajal, Ruiting Zong, David L. Nelson, Ghada A. Otaify, Samia Temtamy, Mona Aglan, Mahmoud Issa, Carsten G. Bönnemann, Pablo Lapunzina, Grace Yoon, Victor L. Ruiz-Perez

Hämta fulltext