المؤلفون: Nicholas, Adeline K, Serra, Eva G, Cangul, Hakan, Alyaarubi, Saif, Ullah, Irfan, Schoenmakers, Erik, Deeb, Asma, Habeb, Abdelhadi M, Almaghamsi, Mohammad, Peters, Catherine, Nathwani, Nisha, Aycan, Zehra, Saglam, Halil, Bober, Ece, Dattani, Mehul, Shenoy, Savitha, Murray, Philip G, Babiker, Amir, Willemsen, Ruben, Thankamony, Ajay, Lyons, Greta, Irwin, Rachael, Padidela, Raja, Tharian, Kavitha, Davies, Justin H, Puthi, Vijith, Park, Soo-Mi, Massoud, Ahmed F, Gregory, John W, Albanese, Assunta, Pease-Gevers, Evelien, Martin, Howard, Brugger, Kim, Maher, Eamonn R, Chatterjee, V Krishna K, Anderson, Carl A, Schoenmakers, Nadia

المصدر: Nicholas , A K , Serra , E G , Cangul , H , Alyaarubi , S , Ullah , I , Schoenmakers , E , Deeb , A , Habeb , A M , Almaghamsi , M , Peters , C , Nathwani , N , Aycan , Z , Saglam , H , Bober , E , Dattani , M , Shenoy , S , Murray , P G , Babiker , A , Willemsen , R , Thankamony , A , Lyons , G , Irwin , R , Padidela , R , Tharian , K ....

مصطلحات موضوعية: Autoantigens/genetics, Congenital Hypothyroidism/genetics, Humans, Iodide Peroxidase/genetics, Iron-Binding Proteins/genetics, Mutation, Pedigree, Phenotype, Receptors, Thyrotropin/genetics, Thyroglobulin/genetics

وصف الملف: application/pdf

الاتاحة: https://research.manchester.ac.uk/en/publications/9586acc6-ea6a-416f-a856-5c9637afdc1f
https://doi.org/10.1210/jc.2016-1879
https://pure.manchester.ac.uk/ws/files/178024717/jcem4521.pdf

المؤلفون: Chan, Li F, Chung, Teng-Teng, Massoud, Ahmed F, Metherell, Louise A, Clark, Adrian J L

المصدر: European Journal of Endocrinology ; volume 160, issue 4, page 705-710 ; ISSN 0804-4643 1479-683X

مصطلحات موضوعية: Endocrinology, General Medicine, Endocrinology, Diabetes and Metabolism

الاتاحة: http://dx.doi.org/10.1530/eje-08-0636
https://eje.bioscientifica.com/view/journals/eje/160/4/705.xml

المؤلفون: Nicholas, Adeline K., Serra, Eva G., Cangül, Hakan, Alyaarubi, Saif, Ullah, Irfan, Schoenmakers, Erik, Deeb, Asma, Habeb, Abdelhadi M., Almaghamsi, Mohammad, Peters, Catherine, Nathwani, Nisha, Aycan, Zehra, Bober, Ece, Dattani, Mehul, Shenoy, Savitha, Murray, Philip G., Babiker, Amir, Willemsen, Ruben, Thankamony, Ajay, Lyons, Greta, Irwin, Rachael, Padidela, Raja, Tharian, Kavitha, Davies, Justin H., Puthi, Vijith, Park, Soo-Mi, Massoud, Ahmed F., Gregory, John W., Albanese, Assunta, Pease-Gevers, Evelien, Martin, Howard, Brugger, Kim, Maher, Eamonn R., Chatterjee, V. Krishna K., Anderson, Carl A., Schoenmakers, Nadia

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., Sağlam, Halil, C-7392-2019

مصطلحات موضوعية: TPO protein, TG gene, Iodide peroxidase, Dual Oxidases, Congenital Hypothyroidism, Oxidoreductases, IYD gene, Autoantigens, Gene, Receptor gene, Thyroglobulin gene, Computer model, Phenomics, DUOX2 gene, Endocrinology & metabolism, Priority journal, Allele, Iodide organification defects, Goiter, Sequence analysis, TSHR gene, Pedigree, Phenotype, Iron-binding proteins, Cohort analysis, Human, TPO gene, Clinical article, Population, DNA sequence, Thyrotropin receptor, Guidelines, Thyroglobulin, Article, Autoantigen, Next generation sequencing, Genetic screening, Genetics, Humans, Pathogenicity, Genetic variation, Iron binding protein, Gene mutation, Receptors, thyrotropin, SLC5A5 gene, Congenital hypothyroidism, Japanese patients, DUOX2 mutations, Mutation, Genetic association, SLC26A4 gene, DUOXA2 gene, Dyshormonogenesis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______9458::3810ac6a99c7dd94cdc363c1031129f2
http://hdl.handle.net/11452/28837

المؤلفون: Boonen, Susanne E., Mackay, Deborah J. G., Hahnemann, Johanne M. D., Docherty, Louise E., Grønskov, Karen, Lehmann, Anna, Larsen, Lise G., Haemers, Andreas P., Kockaerts, Yves, Dooms, Lutgarde, Vũ, Dũng Chí, Ngoc, C. T. Bich, Nguyen, Phuong Bich, Kordonouri, Olga, Sundberg, Frida, Dayanikli, Pinar, Puthi, Vijith, Acerini, Carlo, Massoud, Ahmed F., Tümer, Zeynep, Temple, I. Karen

Relation: Boonen, Susanne E., Mackay, Deborah J. G., Hahnemann, Johanne M. D., Docherty, Louise E., Grønskov, Karen, Lehmann, Anna, Larsen, Lise G., Haemers, Andreas P., Kockaerts, Yves, Dooms, Lutgarde, Vũ, Dũng Chí, Ngoc, C. T. Bich, Nguyen, Phuong Bich, Kordonouri, Olga, Sundberg, Frida, Dayanikli, Pinar, Puthi, Vijith, Acerini, Carlo, Massoud, Ahmed F., Tümer, Zeynep and Temple, I. Karen (2013) Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up. Diabetes Care, 36 (3), 505-512. (doi:10.2337/dc12-0700 ). (PMID:23150280 )

الاتاحة: https://eprints.soton.ac.uk/345397/

المؤلفون: Boonen, Susanne E, Mackay, Deborah J G, Hahnemann, Johanne M D, Docherty, Louise, Grønskov, Karen, Lehmann, Anna, Larsen, Lise G, Haemers, Andreas P, Kockaerts, Yves, Dooms, Lutgarde, Vu, Dung Chí, Ngoc, C T Bich, Nguyen, Phuong Bich, Kordonouri, Olga, Sundberg, Frida, Dayanikli, Pinar, Puthi, Vijith, Acerini, Carlo, Massoud, Ahmed F, Tümer, Zeynep, Temple, I Karen

المصدر: Boonen , S E , Mackay , D J G , Hahnemann , J M D , Docherty , L , Grønskov , K , Lehmann , A , Larsen , L G , Haemers , A P , Kockaerts , Y , Dooms , L , Vu , D C , Ngoc , C T B , Nguyen , P B , Kordonouri , O , Sundberg , F , Dayanikli , P , Puthi , V , Acerini , C , Massoud , A F , Tümer , Z & Temple , I K 2013 , ' ....

الاتاحة: https://researchprofiles.ku.dk/da/publications/transient-neonatal-diabetes-zfp57-and-hypomethylation-of-multiple-imprinted-loci(3c38fa68-0be8-437c-94e8-ba70f5121896).html
https://doi.org/10.2337/dc12-0700

المؤلفون: Raza, Jamal, Massoud, Ahmed F., Hindmarsh, Peter C., Robinson, Iain C. A. F., Brook, Charles G. D.

المصدر: Clinical Endocrinology ; volume 48, issue 2, page 217-222 ; ISSN 0300-0664 1365-2265

الاتاحة: http://dx.doi.org/10.1046/j.1365-2265.1998.3821204.x
http://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1046%2Fj.1365-2265.1998.3821204.x
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2265.1998.3821204.x/fullpdf

المؤلفون: Massoud, Ahmed F., Hindmarsh, Peter C., Brook, Charles G. D.

المصدر: Clinical Endocrinology ; volume 47, issue 5, page 537-547 ; ISSN 0300-0664 1365-2265

الاتاحة: http://dx.doi.org/10.1046/j.1365-2265.1997.3121128.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1046%2Fj.1365-2265.1997.3121128.x
https://onlinelibrary.wiley.com/doi/pdf/10.1046/j.1365-2265.1997.3121128.x

المؤلفون: Massoud, Ahmed F., Hindmarsh, Peter C., Matthews, David R., Brook, Charles G. D.

المصدر: Clinical Endocrinology ; volume 44, issue 5, page 555-562 ; ISSN 0300-0664 1365-2265

الاتاحة: http://dx.doi.org/10.1046/j.1365-2265.1996.722543.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1046%2Fj.1365-2265.1996.722543.x
https://onlinelibrary.wiley.com/doi/pdf/10.1046/j.1365-2265.1996.722543.x

المؤلفون: Massoud, Ahmed F., Hindmarsh, Peter C., Brook, Charles G. D.

المصدر: Clinical Endocrinology ; volume 43, issue 5, page 617-621 ; ISSN 0300-0664 1365-2265

الاتاحة: http://dx.doi.org/10.1111/j.1365-2265.1995.tb02927.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2265.1995.tb02927.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1365-2265.1995.tb02927.x

المؤلفون: Boonen, Susanne E, Mackay, Deborah J G, Hahnemann, Johanne M D, Docherty, Louise, Grønskov, Karen, Lehmann, Anna, Larsen, Lise G, Haemers, Andreas P, Kockaerts, Yves, Dooms, Lutgarde, Vu, Dung Chí, Ngoc, C T Bich, Nguyen, Phuong Bich, Kordonouri, Olga, Sundberg, Frida, Dayanikli, Pinar, Puthi, Vijith, Acerini, Carlo, Massoud, Ahmed F, Tümer, Zeynep

المصدر: Diabetes Care; Mar2013, Vol. 36 Issue 3, p505-512, 8p

المؤلفون: Nicholas, Adeline K, Serra, Eva G, Cangul, Hakan, Alyaarubi, Saif, Ullah, Irfan, Schoenmakers, Erik, Deeb, Asma, Habeb, Abdelhadi M, Almaghamsi, Mohammad, Peters, Catherine, Nathwani, Nisha, Aycan, Zehra, Saglam, Halil, Bober, Ece, Dattani, Mehul, Shenoy, Savitha, Murray, Philip G, Babiker, Amir, Willemsen, Ruben, Thankamony, Ajay, Lyons, Greta, Irwin, Rachael, Padidela, Raja, Tharian, Kavitha, Davies, Justin H, Puthi, Vijith, Park, Soo-Mi, Massoud, Ahmed F, Gregory, John W, Albanese, Assunta, Pease-Gevers, Evelien, Martin, Howard, Brugger, Kim, Maher, Eamonn R, Chatterjee, V Krishna K, Anderson, Carl A, Schoenmakers, Nadia

مصطلحات موضوعية: Phenotype, Iron-Binding Proteins, Mutation, Congenital Hypothyroidism, Humans, Receptors, Thyrotropin, Autoantigens, Iodide Peroxidase, Thyroglobulin, 3. Good health, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a259ea932fd7575d80fea11456e147f0