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1دورية أكاديمية
المؤلفون: Hind Alsharhan, Mohammad Z. Haider, Bann Qadoura, Mariam Ayed, Gursev S. Dhaunsi, Hessa Alkandari
المصدر: Frontiers in Pediatrics, Vol 12 (2024)
مصطلحات موضوعية: lysosomal storage disorder, newborn screening, mucopolysaccharidosis, enzymatic testing, genetic testing, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2024.1376053/fullTest; https://doaj.org/toc/2296-2360Test
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2دورية أكاديمية
المؤلفون: Maryam Aburezq, Ahmad Alahmad, Rasha Alsafi, Asma Al-Tawari, Dina Ramadan, Magdy Shafik, Omar Abdelaty, Nawal Makhseed, Reem Elshafie, Mariam Ayed, Abrar Hayat, Fatima Dashti, Dana Marafi, Buthaina Albash, Laila Bastaki, Hind Alsharhan
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
مصطلحات موضوعية: Biotin-thiamine-responsive, Basal ganglia, SLC19A3, Neurometabolic, Encephalopathy, Genetic, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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3دورية أكاديمية
المؤلفون: Mohammad Z. Haider, Maysoun Al Rushood, Hind Alsharhan, Majedah A. Rasoul, Maria Al-Mahdi, Hessa Al-Kandari
المصدر: Frontiers in Pediatrics, Vol 11 (2023)
مصطلحات موضوعية: cytokine gene, HLA, polymorphism, type 1 diabetes mellitus, Kuwait, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2023.1118137/fullTest; https://doaj.org/toc/2296-2360Test
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4دورية أكاديمية
المؤلفون: Noor Almoosawy, Fawaz Albaghli, Haya H. Al-Balool, Hanan Fathi, Waleed A. Zakaria, Mariam Ayed, Hind Alsharhan
المصدر: Genes, Vol 14, Iss 6, p 1225 (2023)
مصطلحات موضوعية: chromosome 3, interstitial deletion, microarray, congenital anomalies, dysmorphism, Genetics, QH426-470
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Hind Alsharhan, Amir A. Ahmed, Naser M. Ali, Ahmad Alahmad, Buthaina Albash, Reem M. Elshafie, Sumaya Alkanderi, Usama M. Elkazzaz, Parakkal Xavier Cyril, Rehab M. Abdelrahman, Alaa A. Elmonairy, Samia M. Ibrahim, Yasser M. E. Elfeky, Doaa I. Sadik, Sara D. Al-Enezi, Ayman M. Salloum, Yadav Girish, Mohammad Al-Ali, Dina G. Ramadan, Rasha Alsafi, May Al-Rushood, Laila Bastaki
المصدر: International Journal of Neonatal Screening, Vol 7, Iss 3, p 56 (2021)
مصطلحات موضوعية: classic homocystinuria, methionine, molecular testing, newborn screening, total homocysteine, incidence, Pediatrics, RJ1-570
وصف الملف: electronic resource
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6
المؤلفون: Rita Alfattal, Maryam Alfarhan, Adeeb M. Algaith, Buthaina Albash, Reem M. Elshafie, Asma Alshammari, Ahmad Alahmad, Fatima Dashti, Rasha Alsafi, Hind Alsharhan
المصدر: American Journal of Medical Genetics Part A. 191:1401-1411
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3a272dc7d34a8fca5ec9ce67673f0e11Test
https://doi.org/10.1002/ajmg.a.63143Test -
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المؤلفون: Eissa Faqeih, Jennifer Friedman, Hudson H. Freeze, Kierstin N Keller, Miao He, Earnest James Paul Daniel, Jie Chen, Hind Alsharhan, Eniko K. Pivnick, Christina Lam, Nicole Engelhardt, Amal Alhashem, Michael J. Bamshad, Deborah A. Nickerson, Pengfei Liu, Kimiyo Raymond, Pamela A Mazzeo, Jill A. Rosenfeld, Bobby G. Ng, Andrew C. Edmondson
المصدر: J Inherit Metab Dis
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Glycan, Microcephaly, Adolescent, Genotype, Bioinformatics, Mannosyltransferases, Article, Young Adult, Epilepsy, Congenital Disorders of Glycosylation, Genetics, medicine, Humans, Endocrine system, Genetics (clinical), Immunodeficiency, biology, Neural tube defect, business.industry, Infant, Newborn, Neural tube, Infant, medicine.disease, Hypotonia, carbohydrates (lipids), Phenotype, medicine.anatomical_structure, Child, Preschool, biology.protein, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a2ccc5c959676b58b2731f7c6d8e242Test
https://doi.org/10.1002/jimd.12367Test -
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المؤلفون: Hind Alsharhan, Jill A. Fahrner, Albert Beckers, Camille Hage, Elena Sabini, Adrian Daly, Roberto Salvatori
المصدر: Pituitary. 23:167-170
مصطلحات موضوعية: Adult, Heterozygote, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, DNA Methyltransferase 3A, Loss of heterozygosity, 03 medical and health sciences, Exon, 0302 clinical medicine, Endocrinology, Germline mutation, Pituitary adenoma, Intellectual Disability, Exome Sequencing, Intellectual disability, Acromegaly, medicine, Humans, Pituitary Neoplasms, DNA (Cytosine-5-)-Methyltransferases, Allele, Gene, Alleles, business.industry, Intracellular Signaling Peptides and Proteins, medicine.disease, Growth Hormone, Mutation, Cancer research, Female, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71abc784ed40909c92f2a41dd508edd7Test
https://doi.org/10.1007/s11102-019-01019-wTest -
9
المؤلفون: Parakkal Xavier Cyril, Laila Bastaki, Rehab M Abdelrahman, Naser M Ali, Yasser M E Elfeky, Ahmad Alahmad, Amir A Ahmed, Yadav Girish, Dina G Ramadan, Sumaya Alkanderi, Usama M Elkazzaz, Rasha Alsafi, Sara D Al-Enezi, Reem M Elshafie, Alaa A Elmonairy, Mohammad Al-Ali, Hind Alsharhan, Doaa I. Sadik, Buthaina Albash, Ayman M Salloum, Samia M Ibrahim, May Al-Rushood
المصدر: International Journal of Neonatal Screening
International Journal of Neonatal Screening, Vol 7, Iss 56, p 56 (2021)
Volume 7
Issue 3مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Total homocysteine, Early detection, Homocystinuria, Consanguinity, RJ1-570, Article, chemistry.chemical_compound, Immunology and Microbiology (miscellaneous), medicine, methionine, Newborn screening, Methionine, molecular testing, business.industry, newborn screening, Incidence (epidemiology), total homocysteine, Obstetrics and Gynecology, Retrospective cohort study, medicine.disease, classic homocystinuria, chemistry, Pediatrics, Perinatology and Child Health, incidence, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81f9ef2c4fcf72551e37e3ff92e96f59Test
https://pubmed.ncbi.nlm.nih.gov/34449519Test -
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المؤلفون: Rebecca D. Ganetzky, Hind Alsharhan, Colleen Muraresku
المصدر: American journal of medical genetics. Part AREFERENCES. 185(8)
مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Ribosomal Proteins, Microcephaly, Mitochondrial Diseases, Genotype, Mitochondrial translation, Mitochondrial disease, DNA Mutational Analysis, 030105 genetics & heredity, Mitochondrial Proteins, 03 medical and health sciences, Genetics, Mitochondrial ribosome, medicine, Humans, Genetic Predisposition to Disease, Child, Genetics (clinical), Alleles, Genetic Association Studies, Psychomotor retardation, business.industry, Siblings, Puerto Rico, Infant, Newborn, Brain, Infant, medicine.disease, Magnetic Resonance Imaging, Hypotonia, 030104 developmental biology, Amino Acid Substitution, Lactic acidosis, Mutation, Female, medicine.symptom, business, Biomarkers, Metabolism, Inborn Errors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c3702338843ebf1023075f48f9e10f8Test
https://pubmed.ncbi.nlm.nih.gov/34008913Test