المؤلفون: Bravo Nieto Daniel, García Fernández Alba S., Díaz Troyano Noelia, Arnaiz Marina Giralt, Arias García Andrea, Fernández Álvarez Paula, Campos Martorell Ariadna, Ferrer Costa Roser, Clemente León María

المصدر: Advances in Laboratory Medicine, Vol 4, Iss 2, Pp 195-198 (2023)

مصطلحات موضوعية: adrenal insufficiency, congenital adrenal hypoplasia, nr0b1, Medical technology, R855-855.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2628-491X

URL الوصول: https://doaj.org/article/9e0413265b3141d0a1d7f37f6abfa7df

المؤلفون: Asanka Rathnasiri, Udara Senarathne, Visvalingam Arunath, Thabitha Hoole, Ishara Kumarasiri, Oshanie Muthukumarana, Eresha Jasinge, Sachith Mettananda

المصدر: BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-5 (2021)

مصطلحات موضوعية: Contiguous gene deletion syndrome, Congenital adrenal hypoplasia, Duchenne muscular dystrophy, Glycerol kinase deficiency, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1472-6823

URL الوصول: https://doaj.org/article/5e97017a0b574e7aa36df26c17afa31e

المؤلفون: Hong Ouyang, Bo Chen, Na Wu, Ling Li, Runyu Du, Meichen Qian, Wenshu Yu, Yujing He, Xinyan Liu

المصدر: BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Congenital adrenal hypoplasia, Hypogonadotropic hypogonadism, DAX1 gene, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1472-6823

URL الوصول: https://doaj.org/article/7f3f12fef4014f9181fd2b64a513de76

المؤلفون: Rathnasiri, Asanka, Senarathne, Udara, Arunath, Visvalingam, Hoole, Thabitha, Kumarasiri, Ishara, Muthukumarana, Oshanie, Jasinge, Eresha, Mettananda, Sachith^{Aff1, Aff4}

المصدر: BMC Endocrine Disorders. 21(1)

المؤلفون: Ouyang, Hong, Chen, Bo, Wu, Na^{Aff1, Aff3}, Li, Ling, Du, Runyu, Qian, Meichen, Yu, Wenshu, He, Yujing, Liu, Xinyan

المصدر: BMC Endocrine Disorders. 21(1)

المؤلفون: Yoon-Myung Kim, Go Hun Seo, Gu-Hwan Kim, Jung Min Ko, Jin-Ho Choi, Han-Wook Yoo

المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)

مصطلحات موضوعية: Congenital adrenal hypoplasia, SAMD9, MIRAGE syndrome, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-018-0546-4; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/45dfce9fcf56410f93e3ce3bd06b9521

المؤلفون: U.D. Senarathne, Sachith Mettananda, Oshanie Muthukumarana, Visvalingam Arunath, Thabitha Jebaseeli Hoole, Eresha Jasinge, Asanka Rathnasiri, Ishara Minuri Kumarasiri

المصدر: BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-5 (2021)
BMC Endocrine Disorders

مصطلحات موضوعية: Male, Duchenne muscular dystrophy, Glycerol kinase deficiency, Pathology, medicine.medical_specialty, Glycerol kinase, Endocrinology, Diabetes and Metabolism, Case Report, Congenital adrenal hypoplasia, Diseases of the endocrine glands. Clinical endocrinology, Primary Adrenal Insufficiency, Glycerol Kinase, medicine, Humans, Myopathy, biology, business.industry, General Medicine, medicine.disease, RC648-665, Hypotonia, Muscular Dystrophy, Duchenne, Contiguous gene deletion syndrome, Hypoadrenocorticism, Familial, Child, Preschool, biology.protein, medicine.symptom, business, Dystrophin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd0987628d7b6a4d79ff547ae3b8c8e1
https://doaj.org/article/5e97017a0b574e7aa36df26c17afa31e

المؤلفون: Rinaldo, Piero^Aff4_27, Matern, Dietrich^Aff5_27

المساهمون: Hoffmann, Georg F., editor^Aff1, Zschocke, Johannes, editor^Aff2, Nyhan, William L., editor^Aff3

المصدر: Inherited Metabolic Diseases : A Clinical Approach. :251-261

المؤلفون: Kim, Yoon-Myung^Aff1, Seo, Go Hun^Aff1, Kim, Gu-Hwan^Aff2, Ko, Jung Min^Aff3, Choi, Jin-Ho^Aff1, Yoo, Han-Wook^Aff1

المصدر: BMC Medical Genetics: BMC series – open, inclusive and trusted. 19(1)

المؤلفون: Laura Cannavò, Simona Santucci, Malgorzata Wasniewska, Filippo De Luca

المصدر: Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, Vol 105, Iss 1 (2017)

مصطلحات موضوعية: congenital adrenal hypoplasia, acute adrenal insufficiency, salt-wasting dehydration, genetic counseling, DAX-1 gene, Medicine, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://cab.unime.it/journals/index.php/APMB/article/view/1548; https://doaj.org/toc/0365-0294; https://doaj.org/toc/1828-6550

URL الوصول: https://doaj.org/article/a099dcbea8b3426191b65ce8565c1bbc