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1دورية أكاديمية
المؤلفون: Mutaz Amin, Cedric Vignal, Esraa Eltaraifee, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Arwa Babai, Iman Elbadi, Doua Mustafa, Rayan Abubaker, Mohamed Mustafa, Severine Drunat, Liena E. O. Elsayed, Ammar E. Ahmed, Odile Boespflug-Tanguy, Imen Dorboz
المصدر: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-5 (2022)
مصطلحات موضوعية: Autosomal recessive, Intellectual disability, TRAPPC9, Novel, Sudan, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1755-8794
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2دورية أكاديمية
المؤلفون: Mutaz Amin, Cedric Vignal, Ahlam A. A. Hamed, Inaam N. Mohammed, Maha A. Elseed, Rayan Abubaker, Yousuf Bakhit, Arwa Babai, Eman Elbadi, Esraa Eltaraifee, Doua Mustafa, Ashraf Yahia, Melka Osman, Mahmoud Koko, Mohamed Mustafa, Mohamed Alsiddig, Sahwah Haroun, Azza Elshafea, Severine Drunat, Liena E. O. Elsayed, Ammar E. Ahmed, Odile Boespflug-Tanguy, Imen Dorboz
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: pontocerebellar hypoplasia 10, CLP1, Sudan, pontocerebellar hypoplasia, family, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Ashraf Yahia, Zhefan Stephen Chen, Ammar E. Ahmed, Sara Emad, Rawaa Adil, Rayan Abubaker, Shaimaa Omer M. A. Taha, Mustafa A. Salih, Liena Elsayed, Ho Yin Edwin Chan, Giovanni Stevanin
المصدر: BMC Neurology, Vol 21, Iss 1, Pp 1-5 (2021)
مصطلحات موضوعية: Spinocerebellar ataxia type 40, Hereditary spastic paraplegia, CCDC88C, Sudan, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2377
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4دورية أكاديمية
المصدر: Frontiers in Molecular Biosciences, Vol 8 (2021)
مصطلحات موضوعية: spastic paraplegia, clinical spectrum, genetic heterogeneity, phenotype-genotype correlation, molecular mechanisms, diagnostic yield, Biology (General), QH301-705.5
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Maha Dahawi, Mohamed S. Elmagzoub, Elhami A. Ahmed, Sara Baldassari, Guillaume Achaz, Fatima A. Elmugadam, Wasma A. Abdelgadir, Stéphanie Baulac, Julien Buratti, Omer Abdalla, Sahar Gamil, Maha Alzubeir, Rayan Abubaker, Eric Noé, Liena Elsayed, Ammar E. Ahmed, Eric Leguern
المصدر: Frontiers in Neurology, Vol 12 (2021)
مصطلحات موضوعية: ADGRV1, genetic generalized epilepsy, absence epilepsy, susceptibility gene, oligogenism, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Ashraf Yahia, Liena E. O. Elsayed, Remi Valter, Ahlam A. A. Hamed, Inaam N. Mohammed, Maha A. Elseed, Mustafa A. Salih, Typhaine Esteves, Nicolas Auger, Rayan Abubaker, Mahmoud Koko, Fatima Abozar, Hiba Malik, Rawaa Adil, Sara Emad, Mhammed Alhassan Musallam, Razaz Idris, Isra Z. M. Eltazi, Arwa Babai, Elhami A. A. Ahmed, Amal S. I. Abd Allah, Mathilde Mairey, Ahmed K. M. A. Ahmed, Mustafa I. Elbashir, Alexis Brice, Muntaser E. Ibrahim, Ammar E. Ahmed, Foudil Lamari, Giovanni Stevanin
المصدر: Frontiers in Neurology, Vol 12 (2021)
مصطلحات موضوعية: ABHD16A, hereditary spastic paraplegia, next-generation sequencing, targeted-metabolomics, lipid metabolism, phosphatidylserine, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Mustafa A. M. Salih, Ashraf Yahia, Rayan Abubaker, Mahmoud Koko, Amal S. I. Abd Allah, Mustafa I. Elbashir, Muntaser E. Ibrahim, Alexis Brice, Ammar E. Ahmed, Giovanni Stevanin
المصدر: Frontiers in Neurology, Vol 11 (2020)
مصطلحات موضوعية: hyperargininemia, ARG1 gene, whole exome sequencing, Sudan, spastic quadriplegia, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Mustafa A. M. Salih, Ashraf Yahia, Rayan A. Siddig, Mutaz Amin, Mahmoud Koko, Mustafa I. Elbashir, Muntaser E. Ibrahim, Alexis Brice, Ammar E. Ahmed, Giovanni Stevanin
المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)
مصطلحات موضوعية: Infantile neuroaxonal dystrophy, PLA2G6, Whole exome sequencing, Sudan, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
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9
المؤلفون: Ashraf Yahia, Ahlam A. A. Hamed, Inaam N. Mohamed, Maha A. Elseed, Mustafa A. Salih, Sarah M. El-sadig, Hassab Elrasoul Siddig, Ali Elsir Musa Nasreldien, Mohamed Ahmed Abdullah, Maha Elzubair, Farouk Yassen Omer, Aisha Motwakil Bakhiet, Rayan Abubaker, Fatima Abozar, Rawaa Adil, Sara Emad, Mhammed Alhassan Musallam, Isra Z. M. Eltazi, Zulfa Omer, Hiba Malik, Mayada O. E. Mohamed, Ali A. Elhassan, Eman O. E. Mohamed, Ahmed K. M. A. Ahmed, Elhami A. A. Ahmed, Esraa Eltaraifee, Bidour K. Hussein, Amal S. I. Abd Allah, Lina Salah, Mohamed Nimir, Omnia M. Tag Elseed, Tasneem E. A. Elhassan, Abubakr Elbashier, Esraa S. A. Alfadul, Moneeb Fadul, Khalil F. Ali, Shaimaa Omer M. A. Taha, Elfatih E. Bushara, Mutaz Amin, Mahmoud Koko, Muntaser E. Ibrahim, Ammar E. Ahmed, Liena E. O. Elsayed, Giovanni Stevanin
المصدر: European Journal of Human Genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
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10
المؤلفون: Ashraf Yahia, Ikhlas Ben Ayed, Ahlam A. Hamed, Inaam N. Mohammed, Maha A. Elseed, Aisha M. Bakhiet, Lena Guillot‐Noel, Fatima Abozar, Rawaa Adil, Sara Emad, Rayan Abubaker, Mhammed Alhassan Musallam, Isra Z. M. Eltazi, Zulfa Omer, Omer M. Maaroof, Amal Soussi, Amal Bouzid, Sana Kmiha, Hassen Kamoun, Mustafa A. Salih, Ammar E. Ahmed, Liena Elsayed, Saber Masmoudi, Giovanni Stevanin
المصدر: Ann Hum Genet
مصطلحات موضوعية: Paraplegia, Tunisia, Adenosine Deaminase, Tumor Suppressor Proteins, Ubiquitin-Protein Ligases, RNA-Binding Proteins, Pedigree, Sudan, Phenotype, Intellectual Disability, Mutation, Exome Sequencing, Microcephaly, Genetics, Humans, Exome, Genetics (clinical)