المؤلفون: Dhoha Ben Salah, Mouna Elleuch, Oumeyma Trimeche, Asma Zargni, Fakhri Kallabi, Salma Sakka, Fatma Mnif, Nabila Rekik, Nadia Charfi, Hassen Kamoun, Mouna Mnif Feki, Faten Hadj Kacem, Mohamed Abid

المصدر: Annals of Child Neurology, Vol 32, Iss 2, Pp 130-134 (2024)

مصطلحات موضوعية: achalasia addisonianism alacrimia syndrome, neurologic examination, pallidopyramidal syndrome, electromyography, Internal medicine, RC31-1245, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://annchildneurol.org/upload/pdf/acn-2024-00458.pdf; https://doaj.org/toc/2635-909X; https://doaj.org/toc/2635-9103

URL الوصول: https://doaj.org/article/047022b12fb7477588ee364b1bf1b2b8

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المؤلفون: Güran, Tülay, Buonocore, Federica, Saka, Nurçin, Özbek, Mehmet Nuri, Aycan, Zehra, Bereket, Abdullah, Baş, Firdevs, Darcan, Sükran, Bideci, Aysun, Güven, Ayla, Demir, Korcan, Akıncı, Ayşehan, Büyükinan, Muammer, Aydın, Banu Küçükemre, Turan, Serap, Ağladıoğlu, Sebahat Yılmaz, Atay, Zeynep, Abalı, Zehra Yavaş, Çatlı, Gönül, Yüksel, Bilgin, Akçay, Teoman, Yıldız, Metin, Özen, Samim, Doger, Esra, Demirbilek, Hüseyin, Uçar, Ahmet, Işık, Emregül, Özhan, Bayaram, Bolu, Semih, Özgen, İlker Tolga, Suntharalingham, Jenifer P., Achermann, John C.

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Endokrinoloji ve Diyabet Anabilim Dalı., Tarım, Ömer

مصطلحات موضوعية: Male, Genetic procedures, ABCD1 gene, Turkey, Epidemiology, CYP11A1 gene, Gene, Infant, newborn, Structured questionnaire, Chain cleavage enzyme, High throughput sequencing, MC2R gene, Missense mutation, Child, Endocrinology & metabolism, Priority journal, Achalasia Addisonianism Alacrimia Syndrome, Melanocortin 2 Receptor, Alacrima, Nonsense mutation, Follow-up, Genetic analysis, MRAP gene, Cyp11A1, NR0B1 gene, AAAS gene, NR5A1 gene, Acth receptor, Cohort studies, Female, Molecular diagnosis, Nicotinamide adenine dinucleotide (phosphate) transhydrogenase, Cohort analysis, Primary adrenal insufficiency, Human, Sequence capture, Adolescent, Child, preschool, Age of onset, Major clinical study, Killer-cell deficiency, Hypoplasia congenita, Article, Next generation sequencing, Frameshift mutation, NNT gene, Genetics, Humans, Steroidogenic factor-I, Clinical evaluation, Genetic variation, Gene deletion, Infant, DNA, Mutational analysis, Newborn, Cholesterol monooxygenase (side chain cleaving), Dax-1 nrob1, Onset age, Clinical feature, Preschool child, Missense mutations, Mutation, Corticotropin, Genetic variability, Gene expression, Familial glucocorticoid deficiency, Adrenal insufficiency

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______9458::e4c8d91a98822b4699cf16b5bc2c5c5f
http://hdl.handle.net/11452/26538

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