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1دورية أكاديمية
المؤلفون: Mazhor Aldosary, Shahad Baselm, Maha Abdulrahim, Rawan Almass, Maysoon Alsagob, Zainab AlMasseri, Rozeena Huma, Laila AlQuait, Tarfa Al‐Shidi, Eman Al‐Obeid, Albandary AlBakheet, Basma Alahideb, Lujane Alahaidib, Alya Qari, Robert W. Taylor, Dilek Colak, Moeenaldeen D. AlSayed, Namik Kaya
المصدر: JIMD Reports, Vol 60, Iss 1, Pp 75-87 (2021)
مصطلحات موضوعية: ATP production, deep brain stimulation, mitochondrial oxygen consumption, SLC25A42, truncation, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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المؤلفون: Rozeena Huma
المصدر: Juniper Online Journal of Case Studies. 13
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6caf8c1554a84f459494f6805f5a28f7
https://doi.org/10.19080/jojcs.2022.13.555855 -
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المؤلفون: Khushnooda Ramzan, Maha Alotaibi, Rozeena Huma, Sibtain Afzal
المصدر: Discoveries
مصطلحات موضوعية: musculoskeletal diseases, education.field_of_study, congenital, hereditary, and neonatal diseases and abnormalities, Microarray analysis techniques, business.industry, Population, Chromosome, recessive, Recurrent fractures, Gene deletion, medicine.disease, Bioinformatics, mutations, Osteogenesis imperfecta, medicine, Original Article, education, business, Gene, Type I collagen
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcdf88585cba985b8c4c5769c6fe67b7
https://pubmed.ncbi.nlm.nih.gov/34036147 -
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المؤلفون: Robert W. Taylor, Alya Qari, Rozeena Huma, Moeenaldeen Al-Sayed, Dilek Colak, Laila AlQuait, Rawan Almass, Maysoon Alsagob, Maha Abdulrahim, Lujane Y. Al-Ahaidib, Basma Alahideb, Eman Alobeid, Tarfa Alshidi, Albandary Al-Bakheet, N. Kaya, Mazhor Al-Dosary, Zainab AlMasseri, Shahad Baselm
المصدر: JIMD Reports, Vol 60, Iss 1, Pp 75-87 (2021)
JIMD Reportsمصطلحات موضوعية: Research Report, Mitochondrial encephalomyopathy, medicine.medical_specialty, Mitochondrial DNA, truncation, Endocrinology, Diabetes and Metabolism, QH426-470, Mitochondrion, Biochemistry, Genetics and Molecular Biology (miscellaneous), Diseases of the endocrine glands. Clinical endocrinology, Internal medicine, Genetics, Internal Medicine, medicine, Missense mutation, mitochondrial oxygen consumption, Dystonia, SLC25A42, business.industry, Research Reports, Metabolic acidosis, RC648-665, medicine.disease, deep brain stimulation, ATP production, Endocrinology, Lactic acidosis, Speech delay, medicine.symptom, business
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المصدر: Meta Gene. 19:15-22
مصطلحات موضوعية: 0301 basic medicine, Genetics, Ectodermal dysplasia, Hearing loss, Erythroderma, Gene mutation, Biology, medicine.disease, Phenotype, Short stature, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, otorhinolaryngologic diseases, medicine, Missense mutation, medicine.symptom, Genetics (clinical), Exome sequencing
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المؤلفون: Nicholas W. Wood, Saif Alshahrani, Dilek Colak, Michael C. Kruer, Kshitij Mankad, Zuhair Rahbeeni, Rozeena Huma, Khushnooda Ramzan, Rawan Almass, Stanislav Groppa, Moeenaldeen Al-Sayed, Indran Davagnanam, Fuad Almutairi, Maha S Al-Shammari, Maria Puiu, E Ghayoor Karimiani, N. Kaya, Stephanie Efthymiou, Nourelhoda A Haridy, M Beiraghi Toosi, Alya Qari, Muddathir H. Hamad, Mustafa A. Salih, Maysoon Alsagob, Somayeh Bakhtiari, Jessika Johannsen, Tatjana Bierhals, Reza Maroofian, Katja Kloth, Adela Chirita-Emandi, Henry Houlden, N T Malintan, Faiqa Imtiaz, Ibrahim A. Alorainy, Jana Vandrovcova, Laila AlQuait, Hamad Al-Zaidan, Viorica Chelban
المصدر: European Journal of Neurology
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, leukodystrophy, animal structures, hypomyelination, Neonatal onset, Compound heterozygosity, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Intellectual Disability, Medicine, Humans, Spinocerebellar Ataxias, 030212 general & internal medicine, Child, Exome sequencing, SPAX8, Homeodomain Proteins, Cerebellar ataxia, business.industry, Leukodystrophy, Original Articles, medicine.disease, Disease gene identification, Hypotonia, 3. Good health, Optic Atrophy, Phenotype, Neurology, Muscle Spasticity, Mutation, embryonic structures, NKX6‐2, Original Article, Neurology (clinical), medicine.symptom, business, spastic ataxia 8, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Sarah Al-Ageel, Rozeena Huma, Selwa A.F. Al-Hazzaa, Mohammed Al-Owain, Faiqa Imtiaz, Khushnooda Ramzan, Moeenaldeen Al-Sayed
المصدر: International Journal of Pediatric Otorhinolaryngology. 108:17-21
مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Hearing loss, MYO7A, Usher syndrome, Saudi Arabia, Deafness, Myosins, Compound heterozygosity, Congenital hearing loss, Bioinformatics, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, Retinitis pigmentosa, otorhinolaryngologic diseases, Humans, Medicine, Exome sequencing, business.industry, Homozygote, General Medicine, Disease gene identification, medicine.disease, Pedigree, 030104 developmental biology, Otorhinolaryngology, Child, Preschool, Myosin VIIa, Mutation, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Usher Syndromes, 030217 neurology & neurosurgery
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المصدر: Journal of Clinical Case Reports.
مصطلحات موضوعية: Partial albinism, Pediatrics, medicine.medical_specialty, business.industry, medicine.medical_treatment, Hematopoietic stem cell transplantation, Consanguinity, Silvery-gray hair, Gene mutation, medicine.disease, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Griscelli syndrome type 3, 030220 oncology & carcinogenesis, medicine, business, Griscelli syndrome, Elejalde syndrome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::026121bafbb0e35d2e4e276c4c89152c
https://doi.org/10.4172/2165-7920.1000750 -
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المؤلفون: Faten Al Mutairi, Albandary Al Bakheet, Moeenaldeen Al Sayed, Aliya Qari, Rozeena Huma, Rosan Kenana, Lina M. Al Neghery, Maysoon Al Sagob, Maha H. Daghestani, Rawan Al Mass, Dilek Colak, Namik Kaya
المصدر: International Journal of Genetics and Genomics. 6:11
مصطلحات موضوعية: Dystonia, Genetics, Mutation, Microcephaly, business.industry, Nonsense mutation, medicine.disease, medicine.disease_cause, Loss of heterozygosity, medicine, Missense mutation, Global developmental delay, business, Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0df99055440f31bd5169c1ccc4fb0da1
https://doi.org/10.11648/j.ijgg.20180601.13 -
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المؤلفون: Rozeena Huma, Wijdan Ahmad, Moeenaldeen Al-Sayed
المصدر: Molecular Genetics and Metabolism. 120:S21
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Disease, Lysosomal acid lipase deficiency, Pharmacology, medicine.disease, Biochemistry, Endocrinology, Sebelipase alfa, Internal medicine, Genetics, medicine, Dose escalation, business, Molecular Biology