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1دورية أكاديمية
المؤلفون: Maryem Sahli, Abdelali Zrhidri, Imad Boualaoui, Imane Cherkaoui Jaouad, Youssef El Kadiri, Yassine Nouini, Abdelaziz Sefiani
المصدر: Journal of Medical Case Reports, Vol 17, Iss 1, Pp 1-5 (2023)
مصطلحات موضوعية: Wolfram syndrome, Next-generation sequencing, WFS1 gene, Moroccan family, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1752-1947
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2دورية أكاديمية
المؤلفون: Maryem Sahli, Abdelali Zrhidri, Youssef El Kadiri, Imane Cherkaoui Jaouad, Toufik Meskini, Abdelaziz Sefiani
المصدر: Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-7 (2023)
مصطلحات موضوعية: Wilson disease, Morocco, ATP7B, Next-generation sequencing, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2090-2441
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3دورية أكاديمية
المؤلفون: Youssef El Kadiri, Ilham Ratbi, Mouna Ouhenach, Siham Chafai Elalaoui, Imane Cherkaoui Jaouad, Abdelali Zrhidri, Maryem Sahli, Nazha Birouk, Abdelaziz Sefiani, Jaber Lyahyai
المصدر: Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-17 (2023)
مصطلحات موضوعية: Congenital muscular dystrophy, Congenital myopathy, Neonatal hypotonia, Moroccan patients, Expanding the phenotypic and mutation spectrum, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2090-2441
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4دورية أكاديمية
المؤلفون: Salah Eddine Azaroual, Yassine Kasmi, Abderrahim Aasfar, Hicham El Arroussi, Youssef Zeroual, Youssef El Kadiri, Abdelali Zrhidri, Elmostafa Elfahime, Abdelaziz Sefiani, Issam Meftah Kadmiri
المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-16 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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5دورية أكاديميةNovel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report
المؤلفون: Yahya Benbouchta, Imane Cherkaoui Jaouad, Habiba Tazi, Hamza Elorch, Mouna Ouhenach, Abdelali Zrhidri, Khalid Sadki, Abdelaziz Sefiani, Jaber Lyahyai, Amina Berraho
المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)
مصطلحات موضوعية: Corneal dystrophy, Thiel-behnke corneal dystrophy, TGFBI gene, Whole-exome sequencing, Case report, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1755-8794
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6دورية أكاديمية
المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
مصطلحات موضوعية: Next generation sequencing, Consanguinity, Genetic counseling, Cystinosis, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2350
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7دورية أكاديمية
المؤلفون: Maryem Sahli, Abdelali Zrhidri, Siham Chafai Elaloui, Wiam Smaili, Jaber Lyahyai, Fatima Zohra Oudghiri, Abdelaziz Sefiani
المصدر: Journal of Medical Case Reports, Vol 13, Iss 1, Pp 1-4 (2019)
مصطلحات موضوعية: Epilepsy, Clinical exome sequencing, SCN1A, SCN2A, Novel mutation, Moroccan, Medicine
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Imane Cherkaoui Jaouad, Abdelali Zrhidri, Wafaa Jdioui, Jaber Lyahyai, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim, Abdelaziz Sefiani
المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)
مصطلحات موضوعية: Autosomal recessive primary microcephaly, Genetic heterogeneity, WDR62, Whole exome sequencing, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Abdelali Zrhidri, Saadia Amasdl, Jaber Lyahyai, Hanane Elouardi, Bouchra Chkirate, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim, Abdelaziz Sefiani
المصدر: Pediatric Rheumatology Online Journal, Vol 15, Iss 1, Pp 1-6 (2017)
مصطلحات موضوعية: Mucolipidosis III gamma, GNPTG, Whole exome sequencing, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
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10
المؤلفون: Aziza Sbiti, Mouna Ouhenach, Ilham Ratbi, Maryem Sahli, Youssef El Kadiri, Imane Cherkaoui Jaouad, Yassir Selouani, Abdelaziz Sefiani, Abdelali Zrhidri, Jaber Lyahyai
المصدر: Clinica Chimica Acta. 506:28-32
مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Clinical Biochemistry, Biology, Biochemistry, DNA sequencing, Dystrophin, Young Adult, 03 medical and health sciences, Exon, 0302 clinical medicine, Multiplex polymerase chain reaction, medicine, Humans, Multiplex, Multiplex ligation-dependent probe amplification, Child, Genetic testing, Genetics, medicine.diagnostic_test, Genetic heterogeneity, Point mutation, Biochemistry (medical), High-Throughput Nucleotide Sequencing, General Medicine, Middle Aged, Muscular Dystrophy, Duchenne, Morocco, 030104 developmental biology, Child, Preschool, 030220 oncology & carcinogenesis, Mutation, Female, Multiplex Polymerase Chain Reaction