المؤلفون: Jacob Genizi, Lotan Berger, Muhammad Mahajnah, Yulia Shlonsky, Orit Golan-Shany, Azriel Romem, Ayelet Halevy, Keren Nathan, Rajech Sharkia, Abdelnaser Zalan, Aharon Kessel, Rony Cohen

المصدر: Children, Vol 10, Iss 7, p 1122 (2023)

مصطلحات موضوعية: pseudotumor cerebri, cytokines, chemokines, etiology, pediatrics, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9067/10/7/1122; https://doaj.org/toc/2227-9067

URL الوصول: https://doaj.org/article/3fbd9ec43c4c4ccba10da03a66134cab

المؤلفون: Natalia Borovok, Celeste Weiss, Rajech Sharkia, Michal Reichenstein, Bernd Wissinger, Abdussalam Azem, Muhammad Mahajnah

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: aryl hydrocarbon receptor, human mutation, infantile nystagmus, gene expression, protein expression, CYP1A1, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2020.582796/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/ccc7d0bfa8ad46538def2e1a7f4e8ead

المؤلفون: Rajech Sharkia, Ahmad Sheikh-Muhammad, Muhammad Mahajnah, Mohammad Khatib, Abdelnaser Zalan

المصدر: Annals of Global Health, Vol 85, Iss 1 (2019)

مصطلحات موضوعية: Infectious and parasitic diseases, RC109-216, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://annalsofglobalhealth.org/articles/2350; https://doaj.org/toc/2214-9996

URL الوصول: https://doaj.org/article/bdcd7e3c59d34f4e819338fb9e23069d

المؤلفون: Rajech Sharkia, Abdelnaser Zalan, Amit Kessel, Wasif Al-Shareef, Hazar Zahalka, Holger Hengel, Ludger Schöls, Abdussalam Azem, Muhammad Mahajnah

المصدر: Genes, Vol 15, Iss 6, p 791 (2024)

مصطلحات موضوعية: SCAPER, intellectual disability, retinitis pigmentosa, Arab society in Israel, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/15/6/791; https://doaj.org/toc/2073-4425; https://doaj.org/article/244151a766f645baafaca4b009f7631b

الاتاحة: https://doi.org/10.3390/genes15060791
https://doaj.org/article/244151a766f645baafaca4b009f7631b

المؤلفون: Rajech Sharkia, Sahil Jain, Muhammad Mahajnah, Clair Habib, Abdussalam Azem, Wasif Al-Shareef, Abdelnaser Zalan

المصدر: Genes; Volume 14; Issue 5; Pages: 1031

مصطلحات موضوعية: autosomal recessive disorder, bioinformatics analysis, clinical features, IMNEPD, PTRH2 gene, PTRH2 variants, rare genetic diseases

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14051031

الاتاحة: https://doi.org/10.3390/genes14051031

المؤلفون: Rajech Sharkia, Abdelnaser Zalan, Hazar Zahalka, Amit Kessel, Ayman Asaly, Wasif Al-Shareef, Muhammad Mahajnah

المصدر: Genes; Volume 13; Issue 8; Pages: 1393

مصطلحات موضوعية: neuronal ceroid lipofuscinoses (NCL), CLN8 disease, CLN8 gene, compound heterozygous variant, neurodegenerative disease, bioinformatic analyses

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13081393

الاتاحة: https://doi.org/10.3390/genes13081393

المؤلفون: Muhammad, Mahajnah, Ariel T, Suchi, Hazar, Zahakah, Rajech, Sharkia, Shaden R, Shuhaiber, Isaac, Srugo, Jacob, Genizi

المصدر: Journal of Neuro-Ophthalmology. 42:e93-e98

مصطلحات موضوعية: Adult, Male, Pseudotumor Cerebri, Ophthalmology, Adolescent, Humans, Cognitive Dysfunction, Female, Prospective Studies, Neurology (clinical), Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b170985fefff1428d01e5c4663dd36b
https://doi.org/10.1097/wno.0000000000001420

المؤلفون: Abdelnaser Zalan, Mohammad Khatib, Ahmad Sheikh Muhammad, Muhammad Mahajnah, Esmael Atamany, Rajech Sharkia

المصدر: Advances in Anthropology. 12:137-148

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::820d372e296f1b5e8d8eee0d2f8a40b9
https://doi.org/10.4236/aa.2022.123011

المؤلفون: Rajech Sharkia, Mohammad Khatib, Ahmad Sheikh-Muhammad, Muhammad Mahajnah, Abdelnaser Zalan

المصدر: Journal of Biosocial Science. 55:169-173

مصطلحات موضوعية: Public Health, Environmental and Occupational Health, General Social Sciences

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fe330e9c11b96c4adbcb78151c0ff13
https://doi.org/10.1017/s0021932021000675

المؤلفون: Rebecca Buchert, Zaid Ghanem, Mohammed Falana, Peter Bauer, Suhail Ayesh, Hiyam Marzouqa, Yvonne Schelling, Rajech Sharkia, Holger Hengel, Osama Balousha, Werner Deigendesch, Ghassan Balousha, Abdussalam Azem, Ludger Schöls, Jimmy Zaidan, Marc Sturm, Muhammad Mahajnah, Reinhard Keimer, Tobias B. Haack

المصدر: European Journal of Human Genetics
European journal of human genetics 28(8), 1034-1043 (2020). doi:10.1038/s41431-020-0609-9

مصطلحات موضوعية: Male, 0301 basic medicine, Candidate gene, Genetic testing, Genetic counseling, Consanguinity, Biology, Runs of Homozygosity, standards [Exome Sequencing], Article, 03 medical and health sciences, SGCG, 0302 clinical medicine, Gene Frequency, Genetics research, Exome Sequencing, Genetics, medicine, genetics [Arabs], Humans, Genetic Predisposition to Disease, ddc:610, Genetics (clinical), Exome sequencing, medicine.diagnostic_test, genetics [Nervous System Diseases], Arabs, Pedigree, 030104 developmental biology, Genetic Loci, statistics & numerical data [Exome Sequencing], Female, Nervous System Diseases, Inbreeding, Neurological disorders, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::049475c95708e15ef7a4bbb6f3325c93
https://doi.org/10.1038/s41431-020-0609-9

المؤلفون: Holger Hengel, Rebecca Buchert, Marc Sturm, Tobias B. Haack, Yvonne Schelling, Muhammad Mahajnah, Rajech Sharkia, Abdussalam Azem, Ghassan Balousha, Zaid Ghanem, Mohammed Falana, Osama Balousha, Suhail Ayesh, Reinhard Keimer, Werner Deigendesch, Jimmy Zaidan, Hiyam Marzouqa, Peter Bauer, Ludger Schöls

المصدر: European journal of human genetics 30(2), 248 (2022). doi:10.1038/s41431-021-00909-7

مصطلحات موضوعية: Genetics, ddc:610, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2428f872f2bce3d92df117d5bd0c0115

المؤلفون: Muhammad Mahajnah, Rajech Sharkia, Haitham Shalabe, Ruth Terkel-Dawer, Ashraf Akawi, Nathanel Zelnik

المصدر: BioMed Research International, Vol 2015 (2015)

مصطلحات موضوعية: Medicine

Relation: http://dx.doi.org/10.1155/2015/962093; https://doaj.org/toc/2314-6133; https://doaj.org/toc/2314-6141; https://doaj.org/article/d2f891032379442ea80044b4c6fb26ee

الاتاحة: https://doi.org/10.1155/2015/962093
https://doaj.org/article/d2f891032379442ea80044b4c6fb26ee

المؤلفون: Elfride De Baere, Gail Maconachie, Abdussalam Azem, Peter Bauer, Yuval Cohen, Martin Schulze, Birgit Lorenz, Bernd Wissinger, Rajech Sharkia, Basamat Almoallem, Irene Gottlob, Muhammad Mahajnah, Anja K. Mayer, Susanne Kohl, Elias I. Traboulsi, Adib Habib, Mervyn G Thomas

المصدر: Brain. 142:1528-1534

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, genetic structures, Consanguinity, Nystagmus, Nervous System Malformations, Article, Mice, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Basic Helix-Loop-Helix Transcription Factors, Electroretinography, medicine, Animals, Humans, Optic Nerve Hypoplasia, Child, Exome sequencing, biology, business.industry, Homozygote, Genetic disorder, medicine.disease, Aryl hydrocarbon receptor, eye diseases, Hypoplasia, Pedigree, 030104 developmental biology, Endocrinology, Receptors, Aryl Hydrocarbon, Mutation, biology.protein, Albinism, Female, Neurology (clinical), medicine.symptom, business, Nystagmus, Congenital, 030217 neurology & neurosurgery, Horizontal pendular nystagmus

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f33da5a8400e6e0ec889f72e95b9e16a
https://doi.org/10.1093/brain/awz098

المؤلفون: Abdelnaser Zalan, Rajech Sharkia

المصدر: Handbook of Healthcare in the Arab World ISBN: 9783030368104
Handbook of Healthcare in the Arab World ISBN: 9783319743653
Handbook of Healthcare in the Arab World

مصطلحات موضوعية: Gerontology, business.industry, Type 2 Diabetes Mellitus, Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8cda1dd2bd63e7e3e4916745e12cf79
https://doi.org/10.1007/978-3-030-36811-1_162

المؤلفون: Ahmad Sheikh-Muhammad, Mohammad Khatib, Abdelnaser Zalan, Rajech Sharkia

المصدر: Current diabetes reviews. 17(8)

مصطلحات موضوعية: Adult, business.industry, Endocrinology, Diabetes and Metabolism, Incidence (epidemiology), Incidence, Ethnic group, Disease, Type 2 diabetes, medicine.disease, Arabs, Endocrinology, Diabetes Mellitus, Type 2, Health care, Prevalence, Medicine, Humans, Israel, business, Developed country, Demography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f671257d9d83424b93067f80898f6149
https://pubmed.ncbi.nlm.nih.gov/33820521

المؤلفون: Morad Khayat, Alessandra Torraco, M. Eileen McCormick, Klaas J. Wierenga, Holger Hengel, Rosalba Carrozzo, Stavit A. Shalev, Camilla Ceccatelli Berti, Muhammad Mahajnah, Paola Goffrini, Amit Kessel, Rajech Sharkia, Ronen Spiegel, Ludger Schöls, Andrea Klein, Abdussalam Azem, Barbara Plecko, Lucia Abela, Enrico Bertini

المصدر: Journal of inherited metabolic disease 42(2), 264-275 (2019). doi:10.1002/jimd.12022

مصطلحات موضوعية: Male, Retinal degeneration, Microcephaly, Pathology, Internationality, Compound heterozygosity, genetics [Optic Atrophy], Cerebellum, pathology [Cerebellum], genetics [Exome], Missense mutation, Exome, 610 Medicine & health, Child, Genetics (clinical), Aconitate Hydratase, 0303 health sciences, Homozygote, 030305 genetics & heredity, High-Throughput Nucleotide Sequencing, Neurodegenerative Diseases, ACO2, Syndrome, genetics [Ataxia], Magnetic Resonance Imaging, genetics [Retinal Dystrophies], Child, Preschool, Female, diagnosis [Retinal Dystrophies], medicine.medical_specialty, Adolescent, genetics [Aconitate Hydratase], Citric Acid Cycle, diagnosis [Neurodegenerative Diseases], Mutation, Missense, Aconitase, Young Adult, 03 medical and health sciences, Atrophy, genetics [Microcephaly], Retinal Dystrophies, Genetics, medicine, Humans, ddc:610, 030304 developmental biology, business.industry, diagnosis [Optic Atrophy], medicine.disease, Optic Atrophy, genetics [Neurodegenerative Diseases], deficiency [Aconitate Hydratase], Ataxia, business, Truncal ataxia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a10635375098a53dd82a5972086f8668
https://doi.org/10.1002/jimd.12022

المؤلفون: Rajech, Sharkia

المصدر: MODID-6d55e02e354:IntechOpen

مصطلحات موضوعية: Medical / Genetics, bisacsh:MED107000

وصف الملف: application/pdf

Relation: https://openresearchlibrary.org/viewer/3e1be73c-cccb-4c10-9e59-6a22b08476b1; https://openresearchlibrary.org/ext/api/media/3e1be73c-cccb-4c10-9e59-6a22b08476b1/assets/external_content.pdf

الاتاحة: https://openresearchlibrary.org/viewer/3e1be73c-cccb-4c10-9e59-6a22b08476b1
https://openresearchlibrary.org/ext/api/media/3e1be73c-cccb-4c10-9e59-6a22b08476b1/assets/external_content.pdf
https://doi.org/10.5772/23970

المؤلفون: Nadeem Shorbaji, Muhammad Mahajnah, Rajech Sharkia, Nathanel Zelnik

المصدر: Journal of Attention Disorders. 24:1125-1131

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, medicine.medical_treatment, Group ii, Comorbidity, Newly diagnosed, 03 medical and health sciences, 0302 clinical medicine, Age groups, Sleep Initiation and Maintenance Disorders, mental disorders, Developmental and Educational Psychology, medicine, Insomnia, Humans, Learning disorders, 0501 psychology and cognitive sciences, Child, Comorbid psychopathology, Methylphenidate, 05 social sciences, Stimulant, Clinical Psychology, Attention Deficit Disorder with Hyperactivity, Central Nervous System Stimulants, Female, medicine.symptom, Psychology, 030217 neurology & neurosurgery, 050104 developmental & child psychology, Clinical psychology, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d23da956b0e3e97d80c13156e4d31718
https://doi.org/10.1177/1087054717696768

المؤلفون: William G. Newman, Ronen Spiegel, Jill E. Urquhart, Orly Elpeleg, Rajech Sharkia, Abdelnaser Zalan, Milit Marom-David, Muhammad Mahajnah, Simon G. Williams, Abdussalam Azem, Nathan Watemberg, Stavit A. Shalev, Sanjeev S. Bhaskar, Sarah B. Daly

المصدر: American Journal of Medical Genetics Part A. 173:1051-1055

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Microcephaly, Adolescent, Pain Insensitivity, Congenital, Hearing Loss, Sensorineural, Mutation, Missense, Gene Expression, Consanguinity, Biology, Mitochondrial Proteins, Genetic Heterogeneity, 03 medical and health sciences, 0302 clinical medicine, Myopia, Genetics, medicine, Humans, Missense mutation, Global developmental delay, Genetics (clinical), Exome sequencing, Puberty, Delayed, Base Sequence, Genetic heterogeneity, Siblings, Homozygote, Peripheral Nervous System Diseases, medicine.disease, Pedigree, Phenotype, 030104 developmental biology, Peripheral neuropathy, Disease Progression, Female, Sensorineural hearing loss, Carboxylic Ester Hydrolases, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ac6f5f51dbadd0ad5c6128a4c27716d
https://doi.org/10.1002/ajmg.a.38140

المؤلفون: Bernd Wissinger, Martin Schulze, Peter Bauer, Ditta Zobor, Ludger Schöls, Abdussalam Azem, Muhammad Mahajnah, Anja K. Mayer, Rajech Sharkia, Ghassan Balousha, Suhail Ayesh, Rebecca Buchert

المصدر: European journal of human genetics 28(6), 742-753 (2020). doi:10.1038/s41431-019-0566-3
Eur J Hum Genet

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Candidate gene, Genetic counseling, Article, DNA sequencing, symbols.namesake, genetics [Eye Diseases, Hereditary], Genetics, medicine, genetics [Arabs], Humans, ddc:610, Israel, Genetics (clinical), Exome sequencing, Genetic testing, Sanger sequencing, medicine.diagnostic_test, business.industry, ethnology [Eye Diseases, Hereditary], Knobloch syndrome, Eye Diseases, Hereditary, Disease gene identification, medicine.disease, Arabs, Pedigree, Genetic Loci, epidemiology [Eye Diseases, Hereditary], Mutation, symbols, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::850e422143fb56cc8a86d8a3ce64eb69