المؤلفون: Zhao Jing, Xuan Xiaoyan, Li Hongying, Chen Zhengfang, Fan Xiaoxuan, Zhao Xiaoke

المصدر: Xin yixue, Vol 55, Iss 4, Pp 292-297 (2024)

مصطلحات موضوعية: congenital heart defects， dysmorphic facial features and intellectual developmental disorders, cdk13 gene, cdk13-related disorder, global developmental delay, intellectual disability, Medicine

وصف الملف: electronic resource

Relation: https://www.xinyixue.cn/fileup/0253-9802/PDF/1715671218972-1301208972.pdf; https://doaj.org/toc/0253-9802

URL الوصول: https://doaj.org/article/b9a22e79884e4a1b85b1bd8c7b5b6dad

المؤلفون: Dongyan Cui, Songmi Wang, Ai Zhang, Aiguo Liu, Qun Hu

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: CDK13-related disorder, HLH hemophagocytic lymphohistiocytosis, acute lymphobastic leukemia, craniofacial dysmorphic features, children, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.858668/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/1c4d94e91607460ebf0877457c3254df

المؤلفون: Renata Yakubov, Asaly Ayman, Adi Klein Kremer, Machiel van den Akker

المصدر: Journal of Medical Case Reports, Vol 13, Iss 1, Pp 1-5 (2019)

مصطلحات موضوعية: Pseudohypoaldosteronism, CDK13-related disorder, Hyperkalemia, Craniofacial dysmorphic features, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1752-1947

URL الوصول: https://doaj.org/article/5c08ccbfae6241718a5dfeb2c992f988

المؤلفون: Yakubov, Renata^Aff1, Ayman, Asaly, Kremer, Adi Klein, van den Akker, Machiel^{Aff2, Aff3}

المصدر: Journal of Medical Case Reports. 13(1)

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Asaly Ayman, Adi Kremer, Renata Yakubov, Machiel van den Akker

المساهمون: Pediatrics

المصدر: Journal of Medical Case Reports, Vol 13, Iss 1, Pp 1-5 (2019)
Journal of Medical Case Reports

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Pseudohypoaldosteronism, media_common.quotation_subject, DNA Mutational Analysis, Mutation, Missense, lcsh:Medicine, Case Report, 030209 endocrinology & metabolism, Disease, CDK13-related disorder, 03 medical and health sciences, 0302 clinical medicine, Mineralocorticoid receptor, Intellectual Disability, CDC2 Protein Kinase, medicine, Humans, Girl, Chelating Agents, media_common, Psychomotor learning, business.industry, lcsh:R, Infant, General Medicine, Risperidone, medicine.disease, Receptors, Mineralocorticoid, 030104 developmental biology, Methylphenidate, Etiology, Polystyrenes, Hyperkalemia, Female, Related disorder, Serotonin Antagonists, Psychomotor Disorders, Presentation (obstetrics), business, Craniofacial dysmorphic features

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fd1628e3bd1e8795ff18f2be927f2e6
https://doi.org/10.1186/s13256-019-2319-x

المؤلفون: Bostwick B; Baylor College of Medicine, Texas Children's Hospital, Houston, Texas

المصدر: 1993.

المصدر: In: GeneReviews ^® Adam MP; Ardinger HH; Pagon RA; Wallace SE; Bean LJH; Gripp KW; Mirzaa GM; Amemiya A

نوع المنشور: Review

بيانات الدورية: Publisher: University of Washington, Seattle Cited Medium: Internet