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1
المؤلفون: Paul-Martin Holterhus, Ilhem Charfeddine, Ali Saad, Ons Mamaï, Felix G. Riepe, Abdelbasset Amara, Moez Gribaa, Alexandra Kulle, Fathi Amri, Amira Mili, Najoua Kahloul, Labiba Adala
المصدر: General and Comparative Endocrinology. 175:514-518
مصطلحات موضوعية: Male, Aldosterone synthase, medicine.medical_specialty, Tunisia, Molecular Sequence Data, Mutation, Missense, Biology, Frameshift mutation, Endocrinology, Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency, Internal medicine, medicine, Humans, Missense mutation, Congenital adrenal hyperplasia, Amino Acid Sequence, Steroid 11-beta-hydroxylase, Adrenal Hyperplasia, Congenital, Virilization, 21-Hydroxylase, medicine.disease, Virilism, Pedigree, Mutagenesis, Insertional, Child, Preschool, Hypertension, biology.protein, Steroid 11-beta-Hydroxylase, Female, Animal Science and Zoology, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc82f3c54a90ea6b9dd701f8577c7a8fTest
https://doi.org/10.1016/j.ygcen.2011.12.017Test -
2
المؤلفون: Habib Selmi, Fathi Amri, S. Ferchichi, Mohamed Bejaoui, Sandrine Laradi, Amel Haj Khelil, Asma Kassab-Chekir, Abdelhedi Miled, Moncef Feki
المصدر: Clinica Chimica Acta. 338:79-86
مصطلحات موضوعية: Male, Vitamin, medicine.medical_specialty, Thiobarbituric acid, medicine.medical_treatment, Clinical Biochemistry, medicine.disease_cause, Biochemistry, Antioxidants, Superoxide dismutase, chemistry.chemical_compound, hemic and lymphatic diseases, Internal medicine, medicine, TBARS, Humans, Child, Alpha globulin, biology, Chemistry, Vitamin E, beta-Thalassemia, Biochemistry (medical), Beta thalassemia, General Medicine, Oxidants, medicine.disease, Oxidative Stress, Endocrinology, Case-Control Studies, biology.protein, Female, Oxidative stress
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38cacd9e3a625372b7ee558d7b6a28f8Test
https://doi.org/10.1016/j.cccn.2003.07.010Test -
3
المؤلفون: Samir M'Rabet, Najoua Kahloul, Hassen Sboui, Sihem Trimech, N. Zouari, Felix G. Riepe, Mohamed Tahar Sfar, Fathi Amri, Saloua Makni, Abdelkarim Ayedi, Ali Saad, Ilhem Charfeddine, Eric Clauser, Paul-Martin Holterhus, Slaheddine Chouchane, Moez Gribaa, Hechmi Ben Hamouda
المصدر: Gene. 507(1)
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Tunisia, endocrine system diseases, Adolescent, Pseudogene, Population, Molecular Sequence Data, Single-nucleotide polymorphism, Steroid biosynthesis, Biology, urologic and male genital diseases, Polymorphism, Single Nucleotide, Genetics, medicine, Humans, Point Mutation, Congenital adrenal hyperplasia, Allele, education, Child, Gene, Alleles, Genetic Association Studies, education.field_of_study, Adrenal Hyperplasia, Congenital, Base Sequence, Point mutation, nutritional and metabolic diseases, Infant, General Medicine, Middle Aged, medicine.disease, Molecular biology, female genital diseases and pregnancy complications, Child, Preschool, Female, Steroid 21-Hydroxylase, Pseudogenes
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85eea49b042f7a19bb4c8932a2e55e59Test
https://pubmed.ncbi.nlm.nih.gov/22841790Test -
4
المؤلفون: Jamel, Chemli, Samia, Boussetta, Saoussen, Krid, Najoua, Kahloul, Saayda, Hassayoun, Abdelfattah, Zakhama, Sawssen, Abroug, Mongia, Hachicha, Fathi, Amri, Mohamed Neji, Guediche, Mohamed Tahar, Sfar, Ahmed Sahloul, Essoussi, Abdelaziz, Harbi
المصدر: La Tunisie medicale. 89(6)
مصطلحات موضوعية: Male, Nephrotic Syndrome, Adolescent, Child, Preschool, Humans, Infant, Female, Child, Retrospective Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::d52ee28a6ba43cc1c36c2e66f64a0054Test
https://pubmed.ncbi.nlm.nih.gov/21681713Test -
5
المؤلفون: Lamia Boughammura, Abdelbasset Amara, Ilhem Charfeddine, Fathi Amri, D. Hmida, Najla Salem, Ons Mamaï, Moez Gribaa, Labiba Adala, Taheni Ben Lazreg, Ali Saad, Amira Mili
المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 16(2)
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Tunisia, Adolescent, Genotype, Gene Dosage, Nerve Tissue Proteins, SMN1, Biology, Spinal Muscular Atrophies of Childhood, Occludin, Exon, Young Adult, medicine, Humans, Multiplex ligation-dependent probe amplification, Copy-number variation, Child, Infant, Membrane Proteins, General Medicine, Spinal muscular atrophy, Exons, Telomere, SMA, medicine.disease, Survival of Motor Neuron 1 Protein, Neuronal Apoptosis-Inhibitory Protein, nervous system diseases, Survival of Motor Neuron 2 Protein, Phenotype, Child, Preschool, Pediatrics, Perinatology and Child Health, Chromosomes, Human, Pair 5, Female, Neurology (clinical), NAIP, Multiplex Polymerase Chain Reaction, Gene Deletion, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dfc1584466a3fa0f23276dbd80cec79Test
https://pubmed.ncbi.nlm.nih.gov/21821450Test -
6
المؤلفون: Abdallah, Mahdhaoui, Brahim, Tabarki, Hatem, Bouraoui, Mohamed Amine, Majdoub, Nabiha, Mahdhaoui, Gouider, Jeridi, Samia, S Ernez Hajri, Lamia, Boughamoura, Farah, Thabet, Habib, Salmi, Moncef, Yaacoub, Fathi, Amri, Sahloul, Essoussi, Habib, Ammar
المصدر: La Tunisie medicale. 81(11)
مصطلحات موضوعية: Diagnosis, Differential, Male, Heart Diseases, Echocardiography, Child, Preschool, Humans, Female, Mucocutaneous Lymph Node Syndrome, Child
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::14bc06990f30769cc094a9dc9393b45bTest
https://pubmed.ncbi.nlm.nih.gov/14986544Test