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1دورية أكاديمية
المؤلفون: Mohamed Tawalbeh, Dunia Aburizeg, Bayan O. Abu Alragheb, Wala Sami Alaqrabawi, Zain Dardas, Luma Srour, Baraah Hatem Altarayra, Ayman A. Zayed, Zaid El Omari, Bilal Azab
المصدر: Genes, Vol 13, Iss 12, p 2192 (2022)
مصطلحات موضوعية: Pendred syndrome, enlarged vestibular aqueduct, SLC26A4, hearing loss, heterogeneity, DFNB4, Genetics, QH426-470
وصف الملف: electronic resource
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2
المؤلفون: Eyad Altamimi, Omar Rabab’h, Dunia Aburizeg, Lynn Akasheh, Zain Dardas, Luma Srour, Heyam Awad, Bilal Azab
المصدر: Journal of Applied Genetics. 64:71-80
مصطلحات موضوعية: Genetics, General Medicine
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3
المؤلفون: Zain Dardas, Bilal Azab, Mariam Khanfar, Eyad Altamimi, Luma Srour, Omar Rabab'h, Lina Mustafa
المصدر: The Application of Clinical Genetics. 13:221-231
مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Genetic counseling, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, 0302 clinical medicine, Genetics, symbols, Medicine, Disease management (health), business, 030217 neurology & neurosurgery, Genetics (clinical), Exome sequencing, Genetic testing
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4
المؤلفون: Montaha Al-Iede, Mariam Khanfar, Eman F. Badran, Luma Srour, Bilal Azab, Raja Rabah, Mousa A. Al-Abbadi
المصدر: Congenital Anomalies. 61:231-233
مصطلحات موضوعية: Respiratory Distress Syndrome, Newborn, Embryology, Pediatrics, medicine.medical_specialty, biology, Respiratory distress, business.industry, Perinatal Death, Homozygote, Infant, Newborn, MEDLINE, General Medicine, ABCA3, Early neonatal death, Text mining, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Humans, Medicine, ATP-Binding Cassette Transporters, business, Developmental Biology
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المؤلفون: Luma Srour, Ayman A. Zayed, Bilal Azab, Yousef Khader, Lina Mustafa, Sawsan Al-Khalayfa, Safaa Mashal, Nancy Hakooz, Mariam Khanfar
المصدر: Gene. 768
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, endocrine system diseases, Genotype, Single-nucleotide polymorphism, Genome-wide association study, Zinc Transporter 8, Biology, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Risk factor, Genetic association, Jordan, SLC30A8, nutritional and metabolic diseases, General Medicine, Middle Aged, SNP genotyping, 030104 developmental biology, Diabetes Mellitus, Type 2, 030220 oncology & carcinogenesis, Case-Control Studies, biology.protein, Female, Gene polymorphism, Polymorphism, Restriction Fragment Length, Genome-Wide Association Study
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المؤلفون: Raja Rabah, Montaha Al-Iede, Belal Azab, Eman F. Badran, Luma Srour, Mousa A. Al-Abbadi, Mariam Khanfar
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neonatal Diseases, Respiratory distress, biology, business.industry, ABCA3, biology.protein, Medicine, Lung tissue, business, Progressive respiratory failure, Electron microscopic, Gene, Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d3535c9ab2d1c10bd7116fbe67f97340
https://doi.org/10.22541/au.159225067.73098149 -
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المؤلفون: Zain Dardas, Eyad Altamimi, Lina Mustafa, Ma'mon M. Hatmal, Hussam Telfah, Belal Azab, Omar Rabab'h, Lana Rashdan, Luma Srour
المصدر: European Journal of Medical Genetics. 63:103981
مصطلحات موضوعية: Diarrhea, Male, 0301 basic medicine, Mutation, Missense, Nerve Tissue Proteins, Enteroendocrine cell, 030105 genetics & heredity, Bioinformatics, 03 medical and health sciences, Malabsorption Syndromes, Enteric anendocrinosis, Exome Sequencing, Basic Helix-Loop-Helix Transcription Factors, Genetics, medicine, Humans, Missense mutation, Severe diarrhea, Genetics (clinical), Binding Sites, business.industry, Homozygote, Infant, General Medicine, 030104 developmental biology, Congenital diarrhea, Differential diagnosis, medicine.symptom, business