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1
المؤلفون: Leigh Anne Flore, Amita Adhikari, Doris Taha
المصدر: Journal of Pediatric Endocrinology and Metabolism. 34:267-271
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, Goiter, endocrine system diseases, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, 030209 endocrinology & metabolism, medicine.disease_cause, Thyrotropin receptor, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Germline mutation, Internal medicine, medicine, Mutation, business.industry, Thyroidectomy, medicine.disease, Anti-thyroid autoantibodies, Hormone receptor, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, business, Exotropia
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2
المؤلفون: Amita Adhikari, Yegappan Lakshmanan, Rajan Senguttuvan, Doris Taha
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: Genetics, Testis determining factor, Sexual differentiation, Pediatric Endocrinology, Endocrinology, Diabetes and Metabolism, Mutation (genetic algorithm), Biology, Pediatric Sex Hormones
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3
المؤلفون: Rajeev Thirunagari, Doris Taha
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: Nutritional Rickets, General Pediatric Endocrinology, T1D, Hypoglycemia, and Growth, Pediatric Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Environmental health, Medicine, business
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4
المؤلفون: Balasundari Kv Krishnaraj, Doris Taha, Rajan Senguttuvan, Rajeev Thirunagari, Amita Adhikari
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: Pediatric Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Dentistry, Histrelin Acetate, Medicine, Implant, business, Pediatric Sex Hormones
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5
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: Genetics, endocrine system, Pediatric Bone Calcium, Thyroid, and Adrenal, Text mining, endocrine system diseases, Pediatric Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Gene mutation, Biology, business, hormones, hormone substitutes, and hormone antagonists, Thyrotropin receptor
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6
المؤلفون: Vinod K. Misra, Mili Thakur, Doris Taha
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, JAK1 gene, Endocrinology, Diabetes and Metabolism, Case Report, Context (language use), Hypopituitarism, Biology, leptin, 03 medical and health sciences, Anterior pituitary, Internal medicine, medicine, congenital hypopituitarism, Leptin, Chromosome, Pituitary and Neuroendocrinology, chromosome 1p31, medicine.disease, Ectopic Posterior Pituitary, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, Dysplasia, LEPR gene, microdeletion, Haploinsufficiency
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7
المؤلفون: Goh Siok Ying, Jining Wang, David Feldman, Velibor Tasic, Peter J. Malloy, Doris Taha, Loke Kah Yin, Filiz Tutunculer
المصدر: Molecular Genetics and Metabolism. 111:33-40
مصطلحات موضوعية: Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Mutation, Missense, Context (language use), Rickets, Biology, Biochemistry, Calcitriol receptor, Article, Exon, Endocrinology, Internal medicine, Chlorocebus aethiops, Genetics, Vitamin D and neurology, medicine, Animals, Humans, Missense mutation, Vitamin D, Molecular Biology, Cells, Cultured, Binding Sites, Exons, medicine.disease, Codon, Nonsense, COS Cells, Mutagenesis, Site-Directed, Receptors, Calcitriol, Female, Secondary hyperparathyroidism, Familial Hypophosphatemic Rickets, Hypophosphatemia
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8
المؤلفون: Lawrence R. Shoemaker, Jürgen Spranger, Robyn Cairns, Cristina Rusu, Jean Luc André, Barbara Hinkelmann, Beate Schmidt, Bertram F. Pontz, Doris Taha, Helen Fryssira, Guiliana Lama, Thomas Lücke, Jorge M. Saraiva, Stefan Fründ, David Goodman, Knut Helmke, Natasa Stajic, Petra Lamfers, Chantal Loirat, Sabine Sigaudy, Harika Alpay, Radovan Bogdanovic, Yumi Asakura, Silvia Majore, Kshamta B. Hunter, Dominique Bonneau, Sarah F. Smithson, Christy Mayfield, Cornelius F. Boerkoel, Karlien Cransberg
المساهمون: Mitochondrie : Régulations et Pathologie, Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Pediatrics, Hunter, Kshamta B., Luecke, Thomas, Spranger, Juergen, Smithson, Sarah F., Alpay, Harika, Andre, Jean-Luc, Asakura, Yumi, Bogdanovic, Radovan, Bonneau, Dominique, Cairns, Robyn, Cransberg, Karlien, Fruend, Stefan, Fryssira, Helen, Goodman, David, Helmke, Knut, Hinkelmann, Barbara, Lama, Guiliana, Lamfers, Petra, Loirat, Chantal, Majore, Silvia, Mayfield, Christy, Pontz, Bertram F., Rusu, Cristina, Saraiva, Jorge M., Schmidt, Beate, Shoemaker, Lawrence, Sigaudy, Sabine, Stajic, Natasa, Taha, Doris, Boerkoel, Cornelius F.
المصدر: European Journal of Pediatrics
European Journal of Pediatrics, 2010, 169 (7), pp.801-811. ⟨10.1007/s00431-009-1115-9⟩
European Journal of Pediatrics, 169, 801-811. Springer-Verlagمصطلحات موضوعية: Pathology, Genocopy, [SDV]Life Sciences [q-bio], PROTEIN, medicine.disease_cause, Glomerulosclerosis, 0302 clinical medicine, Focal segmental glomerulosclerosis, Locus heterogeneity, NEPHROTIC SYNDROME, Diagnosis, Medicine, Child, GENE-EXPRESSION, 0303 health sciences, Mutation, Glomerulosclerosis, Focal Segmental, ASSOCIATION, Syndrome, 3. Good health, SIBLINGS, Proteinuria, Phenotype, Sella turcica, medicine.anatomical_structure, Child, Preschool, Skeletal dysplasia, Bone and Bones/radiography, Adult, Spondyloepiphyseal dysplasia, medicine.medical_specialty, Adolescent, Osteochondrodysplasias, SPONDYLOEPIPHYSEAL DYSPLASIA, Bone and Bones, Diagnosis, Differential, Genetic Heterogeneity, 03 medical and health sciences, Lymphopenia, Lymphopenia/genetics, Immunodeficiency, Humans, Pediatrics, Perinatology, and Child Health, HELICASE, Preschool, 030304 developmental biology, Original Paper, business.industry, Genetic heterogeneity, DNA Helicases/genetics, DNA Helicases, Focal Segmental/genetics, Schimke immunoosseous dysplasia, medicine.disease, T cell deficiency, Radiography, Differential, Pediatrics, Perinatology and Child Health, Osteochondrodysplasias/genetics/radiography, IMMUNO-OSSEOUS DYSPLASIA, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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9
المؤلفون: Bakr Bin Sadiq, Doris Taha, Omaima Ahmed
المصدر: Annals of Saudi Medicine
Annals of Saudi Medicine, Vol 29, Iss 5, Pp 357-360 (2009)مصطلحات موضوعية: Blood Glucose, Male, Pediatrics, medicine.medical_specialty, Adolescent, Cardiovascular risk factors, Prevalence, Saudi Arabia, lcsh:Medicine, Blood lipids, Blood Pressure, Body Mass Index, Risk Factors, Hyperinsulinism, Medicine, Humans, Obesity, Child, Dyslipidemias, Retrospective Studies, Metabolic Syndrome, business.industry, lcsh:R, nutritional and metabolic diseases, Retrospective cohort study, General Medicine, medicine.disease, Blood pressure, Cardiovascular Diseases, Physical therapy, Original Article, Female, Metabolic syndrome, business, Body mass index
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10
المؤلفون: Amélie Bonnefond, Michel Polak, Martine Vaxillaire, Jawaher Bardise, Doris Taha, Marion Marchand, Séverine Drunat, Alaa Hegab
المصدر: Pediatric Diabetes. 9:240-244
مصطلحات موضوعية: Male, medicine.medical_specialty, Foot Deformities, Congenital, Endocrinology, Diabetes and Metabolism, Saudi Arabia, Gastroenterology, ABCC8, Sepsis, Neonatal diabetes mellitus, Recurrence, Internal medicine, Diabetes mellitus, Diabetes Mellitus, Internal Medicine, medicine, Humans, Abnormalities, Multiple, Pancreas, Immunodeficiency, Fetal Growth Retardation, biology, business.industry, Infant, Newborn, Bacterial Infections, medicine.disease, Anti-Bacterial Agents, medicine.anatomical_structure, Endocrinology, Respiratory failure, Face, Pediatrics, Perinatology and Child Health, Apgar Score, biology.protein, PDX1, business
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11
المؤلفون: Doris Taha, Jerry Wales, Elisa De Franco, Paul Dimitri, Anne Slavotinek, Jacob Hogue, Meena Balasubramanian, Ambika Shetty, Khairya Moussa, Abdelhadi M. Habeb, Fatih Gurbuz
المصدر: American journal of medical genetics. Part A. 170(7)
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Pathology, Depressed nasal bridge, 030209 endocrinology & metabolism, Anterior fontanelle, 03 medical and health sciences, Liver disease, 0302 clinical medicine, Internal medicine, Diabetes mellitus, Genetics, Polycystic kidney disease, Congenital Hypothyroidism, Diabetes Mellitus, Medicine, Humans, Child, Genetics (clinical), Polycystic Kidney Diseases, business.industry, Long philtrum, Infant, Newborn, medicine.disease, Congenital hypothyroidism, DNA-Binding Proteins, Repressor Proteins, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, Child, Preschool, Face, Mutation, Trans-Activators, Female, business, Enlarged kidney, Transcription Factors
وصف الملف: application/pdf
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12
المؤلفون: Omar Abu-Sa'da, Maha Barbar, Doris Taha, Naffaa Al-Harbi
المصدر: Clinical Dysmorphology. 14:191-196
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Saudi Arabia, Lissencephaly, Pathology and Forensic Medicine, Renal tubular acidosis, Renal tubular dysfunction, Cholestasis, Internal medicine, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Arthrogryposis, Cerebral Cortex, Arc (protein), business.industry, Genetic disorder, Infant, Fanconi syndrome, Acidosis, Renal Tubular, Syndrome, General Medicine, medicine.disease, Magnetic Resonance Imaging, Endocrinology, Pediatrics, Perinatology and Child Health, Female, Anatomy, medicine.symptom, business
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13
المؤلفون: Doris Taha, Maha Barbar, Walid El-Naggar, J. Williamson Balfe
المصدر: Pediatric Nephrology. 20:1336-1339
مصطلحات موضوعية: Male, Nephrology, medicine.medical_specialty, Malabsorption, Renal tubular acidosis, Malabsorption Syndromes, Internal medicine, medicine, Humans, In patient, Glucose Metabolism Disorders, business.industry, Infant, Newborn, Galactose, Infant, Acidosis, Renal Tubular, medicine.disease, Nephrocalcinosis, Glucose, Endocrinology, Glucose-galactose malabsorption, Pediatrics, Perinatology and Child Health, Female, business
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14
المؤلفون: Bassan Bin-Abbas, Annick Lecoq, Jean Jacques Robert, Jacques L. Michaud, Nick Shaw, R. Rooman, Céline Haton, Doris Taha, G. Mark Lathrop, Krishna M. Vattem, Ronald C. Wek, Marc Delepine, Bernard Zabel, A. Kemal Topaloglu, Piergiorgio Franceschini, Catherine Diatloff-Zito, Valérie Senée, Timothy Barrett, Cécile Julier, Marc Nicolino, Lynn A. Rainbow
المصدر: Diabetes. 53:1876-1883
مصطلحات موضوعية: Genetics, Mutation, Genetic heterogeneity, Endocrinology, Diabetes and Metabolism, Dwarfism, Biology, medicine.disease, medicine.disease_cause, Multiple epiphyseal dysplasia, Internal Medicine, medicine, Missense mutation, EIF2AK3, Kinase activity, Wolcott–Rallison syndrome
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15
المؤلفون: François Nobili, Lawrence R. Shoemaker, David V. Milford, Mitra Basiratnia, Anna Buck, Georges Deschênes, Isabel Cordeiro, Jorge M. Saraiva, Helen Fryssira, Anja Stein, Behzad Najafian, Natasa Stajic, Laura Massella, Joel Charrow, Glenda Hendson, Umakumaran Ponniah, Thomas Lücke, M. Semin Fenkçi, Doris Taha, Elena Levtchenko, J. Marietta Clewing, Pierre Frange, Yumi Asakura, Christine Kobelka, Jean Luc André, David M. Parham, Jonathan Zonana, Radovan Bogdanovic, Justin Weinkauf, Zhongxin Yu, C. Nur Semerci, Stefan Fründ, Arend Bökenkamp, Cornelius F. Boerkoel, Salman Kirmani, Dorothea Wand, Peter Stenzel, Kory Keller, David B. Lewis, Pierre Cochat, Marie Morimoto, Christy Mayfield, Encarna Guillén-Navarro, D. Ross McLeod, Andrew K. Gormley, Petra Lamfers, Dominique Bonneau
المساهمون: Pediatric surgery, ICaR - Circulation and metabolism
المصدر: Orphanet Journal of Rare Diseases, 7:70. BioMed Central
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 70 (2012)
Morimoto, M, Yu, Z X, Stenzel, P, Clewing, J M, Najafian, B, Mayfield, C, Hendson, G, Weinkauf, J G, Gormley, A K, Parham, D M, Ponniah, U, Andre, J L, Asakura, Y, Basiratnia, M, Bogdanovic, R, Bokenkamp, A, Bonneau, D, Buck, A, Charrow, J, Cochat, P, Cordeiro, I, Deschenes, G, Fenkci, M S, Frange, P, Frund, S, Fryssira, H, Guillen-Navarro, E, Keller, K, Kirmani, S, Kobelka, C, Lamfers, P, Levtchenko, E, Lewis, D B, Massella, L, Mcleod, D R, Milford, D V, Nobili, F, Saraiva, J M, Semerci, C N, Shoemaker, L, Stajic, N, Stein, A, Taha, D, Wand, D, Zonana, J, Lucke, T & Boerkoel, C F 2012, ' Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? ', Orphanet Journal of Rare Diseases, vol. 7, 70 . https://doi.org/10.1186/1750-1172-7-70
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Male, Pathology, Nephrotic Syndrome, Arteriosclerosis, Gene mutation, Research & Experimental Medicine, GENETIC-DISEASES, fibroblast, medical record review, 0302 clinical medicine, MOUSE MODELS, nuclear protein, Genetics(clinical), Pharmacology (medical), Child, COSTELLO-SYNDROME, Genetics & Heredity, 0303 health sciences, adult, gene expression regulation, General Medicine, Hyperplasia, elastin binding protein, Immunohistochemistry, 3. Good health, emphysema, Medicine, Research & Experimental, SUPRAVALVULAR AORTIC-STENOSIS, Child, Preschool, histopathology, Autopsy, medicine.medical_specialty, gene sequence, Osteochondrodysplasias, Vascular disease, Schimke immuno-osseous dysplasia, CELL-PROLIFERATION, 03 medical and health sciences, Humans, human, protein expression, Science & Technology, autosomal recessive disorder, MUTATIONS, human cell, lcsh:R, DNA Helicases, Immunologic Deficiency Syndromes, Schimke immunoosseous dysplasia, school child, medicine.disease, major clinical study, myofibroblast, Elastin, aorta, vascular smooth muscle, smooth muscle fiber, Immunology, umbilical cord, Pulmonary Embolism, Nephrotic syndrome, 030217 neurology & neurosurgery, lung disease, genomic DNA, osteopontin, Medizin, lcsh:Medicine, preschool child, artery intima proliferation, single nucleotide polymorphism, SMARCAL1, gene mutation, Genetics (clinical), Medicine(all), messenger RNA, ELASTIN-BINDING-PROTEIN, article, artery, hyperplasia, unclassified drug, DEFICIENCY, female, Female, Life Sciences & Biomedicine, Adult, EXPRESSION, Pulmonary emphysema, Primary Immunodeficiency Diseases, binding protein, protein localization, lung parenchyma, gene expression profiling, medicine, IMMUNOOSSEOUS DYSPLASIA, 030304 developmental biology, Emphysema, business.industry, Research, human tissue, SWI SNF related matrix associated actin dependent regulator of chromatin subfamily a like 1, Dysplasia, business
وصف الملف: Electronic; application/pdf
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المؤلفون: Doris Taha, Naffaa Al-Harbi, Essam Al-Sabban
المصدر: Journal of pediatric endocrinologymetabolism : JPEM. 21(6)
مصطلحات موضوعية: Blood Glucose, Male, medicine.medical_specialty, Adolescent, Fasting Hypoglycemia, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Hypoinsulinemia, Nephropathy, Impaired glucose tolerance, chemistry.chemical_compound, Endocrinology, Internal medicine, Diabetes mellitus, medicine, Humans, Insulin, Child, Glycated Hemoglobin, Triglyceride, biology, business.industry, Liver Diseases, Genetic Diseases, Inborn, Infant, Glucose Tolerance Test, medicine.disease, Fanconi Syndrome, Hypoglycemia, chemistry, Child, Preschool, Hyperglycemia, Pediatrics, Perinatology and Child Health, biology.protein, GLUT2, Female, business
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17A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth
المؤلفون: Paul Gissen, Amina Khider, Doris Taha, Andrew R. Cullinane
المصدر: American journal of medical genetics. Part A. (23)
مصطلحات موضوعية: Arthrogryposis, Male, medicine.medical_specialty, ARC SYNDROME, Pediatrics, business.industry, Infant, Newborn, Vesicular Transport Proteins, Syndrome, medicine.disease, Osteopenia, Bone Diseases, Metabolic, Fractures, Bone, Endocrinology, Internal medicine, Mutation (genetic algorithm), Mutation, Genetics, medicine, Humans, Abnormalities, Multiple, medicine.symptom, business, Genetics (clinical)
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18
المؤلفون: Dominique Bonneau, Asbjørg Stray-Pedersen, Nathalie Biebuyck-Gouge, Georges Deschênes, Nihal Özdemir, Barbara Hinkelmann, Sandra Cockfield, Stavroula Psoni, Guiliana Lama, David V. Milford, Maria Kanariou, Helen Fryssira, Anja Stein, Lawrence R. Shoemaker, Silvia Majore, Sarah F. Smithson, Natasa Stajic, Isabel Cordeiro, Onur Sakallioglu, Belde Kasap, Helen Georgaki, Beate Schmidt, Valérie Cormier-Daire, Newton A C S Wong, Bertram F. Pontz, Radovan Bogdanovic, Flora Sotsiou, Encarna Guillén-Navarro, Doris Taha, Cornelius F. Boerkoel, Graham Smith, Sara Sebnem Kilic, Kunho Choi, Stefan Fründ, Karel Cutka, J. Marietta Clewing, Shu Lou, Petra Lamfers, Karlien Cransberg, Emily A. Sloan, Pierre Cochat, Yumi Asakura, Chantal Loirat, Jochen H. H. Ehrich, Denis Morin, Jane Tizard, Herbert Reichenbach, David Goodman, Michel Tsimaratos, Cristina Rusu, Laure Collard, Harika Alpay, Yan Huang, Jorge M. Saraiva, Sabine Sigaudy, Willem Proesmans, Thomas Lücke, Sophie Taque, Jean Luc André, Caterina Cancrini, Silke Reif
مصطلحات موضوعية: Male, DNA Mutational Analysis, Biology, Osteochondrodysplasias, Genocopy, Locus heterogeneity, Genetic variation, Genetics, medicine, Humans, Genetic Testing, Allele, Child, Genetics (clinical), Genetic testing, Settore MED/38 - Pediatria Generale e Specialistica, medicine.diagnostic_test, Schimke immuno-osseous dysplasia, Haplotype, DNA Helicases, Immunologic Deficiency Syndromes, Infant, Newborn, Genetic Variation, Infant, Oligogenic Inheritance, medicine.disease, Phenotype, Child, Preschool, Female, Algorithms
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19
المؤلفون: Paul Dimitri, Andrew T. Hattersley, Doris Taha, A. Shetty, F. Garbuz, S. Wallis, Jacob Hogue, Abdelhadi M. Habeb, Sian Ellard, E. De Franco, K. Moussa, Jeremy K.H. Wales, Ann Millward, Anne Slavotinek, D. Hawkes, Teoman Akcay
المصدر: The Journal of Clinical Endocrinology & Metabolism. 100:4685-4685
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Internal medicine, Biochemistry (medical), Clinical Biochemistry, Medicine, business, Biochemistry
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20
المؤلفون: Jack-Christophe Cossec, Céline Charon, Cécile Julier, Doris Taha, Claude Chelala, Daorong Feng, Valérie Senée, Pascal Boileau, Sabine Duchatelet, Marc Nicolino, Pierre Bougnères, Douglas R. Cavener, Hervé Blanc
المصدر: Nature genetics. 38(6)
مصطلحات موضوعية: Male, medicine.medical_specialty, Molecular Sequence Data, Biology, medicine.disease_cause, Infant, Newborn, Diseases, Frameshift mutation, Diabetes mellitus genetics, Mice, Neonatal diabetes mellitus, Diabetes mellitus, Internal medicine, Genetics, medicine, Congenital Hypothyroidism, Diabetes Mellitus, Animals, Humans, Alleles, Mutation, Reverse Transcriptase Polymerase Chain Reaction, Thyroid, Infant, Newborn, Syndrome, medicine.disease, Congenital hypothyroidism, Pedigree, DNA-Binding Proteins, Repressor Proteins, medicine.anatomical_structure, Endocrinology, Trans-Activators, Female, Pancreas, Transcription Factors