المؤلفون: Didem Helvacıoğlu, Tülay Güran

المصدر: JCRPE, Vol 16, Iss 1, Pp 4-10 (2024)

مصطلحات موضوعية: papss2, androgen excess, sulfation, brachyolmia, semd, dheas, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=jcrpe&un=JCRPE-59489Test; https://doaj.org/toc/1308-5727Test; https://doaj.org/toc/1308-5735Test

الوصول الحر: https://doaj.org/article/4ad4f01e7aa044138f97f7d9f79ac8a5Test

المؤلفون: ELÇİOĞLU, HURİYE NURSEL

المساهمون: Iida, Aritoshi, Simsek-Kiper, Pelin Ozlem, Mizumoto, Shuji, Hoshino, Touma, Elcioglu, Nursel, Horemuzova, Eva, Geiberger, Stefan, Yesil, Gozde, Kayserili, Hulya, Utine, Gulen Eda, Boduroglu, Koray, Watanabe, Shigehiko, Ohashi, Hirofumi, Alanay, Yasemin, Sugahara, Kazuyuki, Nishimura, Gen, Ikegawa, Shiro

مصطلحات موضوعية: brachyolmia, PAPSS2, phenotype, androgen excess, 3-PHOSPHOADENOSINE 5-PHOSPHOSULFATE SYNTHESIS, BRACHYMORPHIC MICE, DEFECT, DYSPLASIA, EXPRESSION, SYNTHASE

العلاقة: HUMAN MUTATION; https://hdl.handle.net/11424/237538Test; WOS:000324752700011

الإتاحة: https://doi.org/10.1002/humu.22377Test
https://hdl.handle.net/11424/237538Test

المؤلفون: Iida, Aritoshi, Simsek-Kiper, Pelin Ozlem, Mizumoto, Shuji, Hoshino, Touma, Elcioglu, Nursel, Horemuzova, Eva, Geiberger, Stefan, Yesil, Gozde, Kayserili, Hulya, Utine, Gulen Eda, Boduroglu, Koray, Watanabe, Shigehiko, Ohashi, Hirofumi, Alanay, Yasemin, Sugahara, Kazuyuki, Nishimura, Gen, Ikegawa, Shiro

مصطلحات موضوعية: brachyolmia, PAPSS2, phenotype, androgen excess

وصف الملف: application/pdf

العلاقة: HUMAN MUTATION; https://hdl.handle.net/11443/2721Test; http://dx.doi.org/10.1002/humu.22377Test; WOS:000324752700011

الإتاحة: https://doi.org/10.1002/humu.22377Test
https://hdl.handle.net/11443/2721Test

المؤلفون: Shuji Mizumoto, Gülen Eda Utine, Touma Hoshino, Stefan Geiberger, Pelin Ozlem Simsek-Kiper, Hirofumi Ohashi, Gen Nishimura, Eva Horemuzova, Shigehiko Watanabe, Gozde Yesil, Koray Boduroğlu, Aritoshi Iida, Yasemin Alanay, Nursel Elcioglu, Shiro Ikegawa, Kazuyuki Sugahara, Hülya Kayserili

المساهمون: Acibadem University Dspace, YEŞİL, GÖZDE

المصدر: Human mutation. 34(10)

مصطلحات موضوعية: Male, Heterozygote, Mutation, Missense, Genes, Recessive, Biology, Compound heterozygosity, Osteochondrodysplasias, Short stature, Consanguinity, Multienzyme Complexes, Genetics, medicine, Missense mutation, Humans, Platyspondyly, splice, Genetics (clinical), Homozygote, PAPSS2, Exons, medicine.disease, Phenotype, Introns, Sulfate Adenylyltransferase, Enzyme Activation, Radiography, Dysplasia, Child, Preschool, brachyolmia, Mutation, Mutation testing, Female, androgen excess, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::345a01f750db288a28e3a0524a2c0374Test
https://pubmed.ncbi.nlm.nih.gov/23824674Test