المؤلفون: Christine, B., Graziano, C., Barrett-Harlow, B.

المصدر: The Journal of Sexual Medicine ; volume 17, issue Supplement_1, page S88-S88 ; ISSN 1743-6109 1743-6095

مصطلحات موضوعية: Urology, Reproductive Medicine, Endocrinology, Endocrinology, Diabetes and Metabolism, Psychiatry and Mental health

الإتاحة: https://doi.org/10.1016/j.jsxm.2019.11.160Test
https://api.elsevier.com/content/article/PII:S1743609519316790?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1743609519316790?httpAccept=text/plainTest
https://academic.oup.com/jsm/article-pdf/17/Supplement_1/S88/49025852/jsm_17_1_supplement_1_s88.pdfTest

المؤلفون: Barrett-Harlow, B., Graziano, C., Christine, B.

المصدر: The Journal of Sexual Medicine ; volume 17, issue Supplement_2, page S175-S175 ; ISSN 1743-6109 1743-6095

مصطلحات موضوعية: Urology, Reproductive Medicine, Endocrinology, Endocrinology, Diabetes and Metabolism, Psychiatry and Mental health

الإتاحة: https://doi.org/10.1016/j.jsxm.2020.04.166Test
https://api.elsevier.com/content/article/PII:S1743609520303829?httpAccept=text/xmlTest
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https://academic.oup.com/jsm/article-pdf/17/Supplement_2/S175/49007267/jsm_17_6_supplement_2_s175.pdfTest

المؤلفون: Barrett-Harlow, B., Graziano, C., Christine, B.

المصدر: The Journal of Sexual Medicine ; volume 17, issue Supplement_2, page S213-S213 ; ISSN 1743-6109 1743-6095

مصطلحات موضوعية: Urology, Reproductive Medicine, Endocrinology, Endocrinology, Diabetes and Metabolism, Psychiatry and Mental health

الإتاحة: https://doi.org/10.1016/j.jsxm.2020.04.362Test
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https://academic.oup.com/jsm/article-pdf/17/Supplement_2/S213/49007394/jsm_17_6_supplement_2_s213.pdfTest

المؤلفون: Barrett-Harlow, B., Graziano, C., Christine, B.

المصدر: The Journal of Sexual Medicine ; volume 17, issue Supplement_1, page S73-S74 ; ISSN 1743-6109 1743-6095

مصطلحات موضوعية: Urology, Reproductive Medicine, Endocrinology, Endocrinology, Diabetes and Metabolism, Psychiatry and Mental health

الإتاحة: https://doi.org/10.1016/j.jsxm.2019.11.203Test
https://api.elsevier.com/content/article/PII:S1743609519317229?httpAccept=text/xmlTest
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https://academic.oup.com/jsm/article-pdf/17/Supplement_1/S73/49024903/jsm_17_1_supplement_1_s73a.pdfTest

المؤلفون: Christine, B., Graziano, C., McCraw<, C.

المصدر: The Journal of Sexual Medicine ; volume 16, issue Supplement_1, page S124-S124 ; ISSN 1743-6109 1743-6095

مصطلحات موضوعية: Urology, Reproductive Medicine, Endocrinology, Endocrinology, Diabetes and Metabolism, Psychiatry and Mental health

الإتاحة: https://doi.org/10.1016/j.jsxm.2019.01.263Test
https://api.elsevier.com/content/article/PII:S1743609519302656?httpAccept=text/xmlTest
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https://academic.oup.com/jsm/article-pdf/16/Supplement_1/S124/49023867/jsm_16_4_supplement_1_s124a.pdfTest

المؤلفون: Graziano, C., Christine, B.

المصدر: The Journal of Sexual Medicine ; volume 16, issue Supplement_3, page S49-S49 ; ISSN 1743-6109 1743-6095

مصطلحات موضوعية: Urology, Reproductive Medicine, Endocrinology, Endocrinology, Diabetes and Metabolism, Psychiatry and Mental health

الإتاحة: https://doi.org/10.1016/j.jsxm.2019.03.563Test
https://api.elsevier.com/content/article/PII:S1743609519310860?httpAccept=text/xmlTest
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https://academic.oup.com/jsm/article-pdf/16/Supplement_3/S49/49006061/jsm_16_6_supplement_3_s49a.pdfTest

المؤلفون: Graziano, C., McCraw, C., Christine, B.

المصدر: The Journal of Sexual Medicine ; volume 16, issue Supplement_1, page S53-S53 ; ISSN 1743-6109 1743-6095

مصطلحات موضوعية: Urology, Reproductive Medicine, Endocrinology, Endocrinology, Diabetes and Metabolism, Psychiatry and Mental health

الإتاحة: https://doi.org/10.1016/j.jsxm.2019.01.112Test
https://api.elsevier.com/content/article/PII:S1743609519301146?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1743609519301146?httpAccept=text/plainTest
https://academic.oup.com/jsm/article-pdf/16/Supplement_1/S53/49023889/jsm_16_4_supplement_1_s53.pdfTest

المؤلفون: Graziano C. Carlon

المصدر: Archives of Internal Medicine. 140:989

مصطلحات موضوعية: medicine.medical_specialty, Chemotherapy, Acute myeloblastic leukemia, business.industry, medicine.drug_class, medicine.medical_treatment, Antibiotics, Metabolic alkalosis, Carbenicillin, medicine.disease, Gastroenterology, Hypokalemia, Endocrinology, hemic and lymphatic diseases, Internal medicine, Amphotericin B, Internal Medicine, Cytarabine, Medicine, medicine.symptom, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6dff50f7c33d64e911249b81878023ecTest
https://doi.org/10.1001/archinte.1980.00040020989034Test

المؤلفون: Veronika Baresova, Miroslav Votruba, Kálmán Tory, Aleš Hnízda, Jakub Sikora, Matthias T.F. Wolf, Marisa Santostefano, Neila Belghith, Lídia Balogh, Jan Živný, Tal Kopel, Robert M. Haws, Bertrand Knebelmann, Andrea Wenzel, Bodo B. Beck, Lawrence R. Shoemaker, Laurent Mesnard, Anna Jakubowska, Kendrah Kidd, Charles Shaw-Smith, Christoforos Stavrou, Mayssa Abdelwahed, Constantinos Deltas, John A. Sayer, Claudio Graziano, Rhian L Clissold, Petr Vyleťal, Stanislav Kmoch, Victoria Robins, Howard Trachtman, Michael E. Bleyer, Marie Matignon, Anthony J. Bleyer, Kathleen Claes, Jana Sovová, Irene Capelli, Philippe Grimbert, Sharon M. Moe, Luca Rampoldi, Ivana Jedličková, Karsten Häeffner, Stéphane Decramer, Kateřina Hodaňová, Helena Trešlová, Matthew R. Sinclair, Raj Munshi, Gregory Papagregoriou, Hana Hartmannová, Albert C.M. Ong, Mohamad Zaidan, Agnieszka Łaszkiewicz, Amy N. Sussman, Claudia Izzi, Martina Živná, Helena Hůlková, Francesco Scolari

المساهمون: Živná, M, Kidd, K, Zaidan, M, Vyleťal, P, Barešová, V, Hodaňová, K, Sovová, J, Hartmannová, H, Votruba, M, Trešlová, H, Jedličková, I, Sikora, J, Hůlková, H, Robins, V, Hnízda, A, Živný, J, Papagregoriou, G, Mesnard, L, Beck, Bb, Wenzel, A, Tory, K, Häeffner, K, Wolf, Mtf, Bleyer, Me, Sayer, Ja, Ong, Acm, Balogh, L, Jakubowska, A, Łaszkiewicz, A, Clissold, R, Shaw-Smith, C, Munshi, R, Haws, Rm, Izzi, C, Capelli, I, Santostefano, M, Graziano, C, Scolari, F, Sussman, A, Trachtman, H, Decramer, S, Matignon, M, Grimbert, P, Shoemaker, Lr, Stavrou, C, Abdelwahed, M, Belghith, N, Sinclair, M, Claes, K, Kopel, T, Moe, S, Deltas, C, Knebelmann, B, Rampoldi, L, Kmoch, S, Bleyer, Aj

المصدر: Kidney international. 98(6)

مصطلحات موضوعية: 0301 basic medicine, Signal peptide, Adult, Male, medicine.medical_specialty, Mutant, 030232 urology & nephrology, Chromosomal translocation, autosomal dominant tubulointerstitial kidney disease, characterization, mutation, prosegment, renin, signal peptide, medicine.disease_cause, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, Renin–angiotensin system, Renin, medicine, Humans, Secretion, Child, Mutation, Polycystic Kidney Diseases, business.industry, Endoplasmic reticulum, Anemia, medicine.disease, 030104 developmental biology, Endocrinology, Nephrology, Female, business, Kidney disease

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43a3f233cbb9fbd3984ddb55fbd2a59aTest
https://pubmed.ncbi.nlm.nih.gov/33276865Test

المؤلفون: Giovanni Romeo, Filomena Moscano, Marco Seri, Simonetta Guidelli Guidi, Laura Mazzanti, Emilio Franzoni, Angela Valentina D'Elia, Giuseppe Damante, Emanuela Scarano, Claudio Graziano, Daniela Turchetti

المساهمون: Graziano C., D'Elia AV., Mazzanti L., Moscano F., Guidelli Guidi S., Scarano E., Turchetti D., Franzoni E., Romeo G., Damante G., Seri M.

المصدر: American Journal of Medical Genetics Part A. :1802-1805

مصطلحات موضوعية: Male, Parents, medicine.medical_specialty, Ataxia, PAX6 Transcription Factor, Eye disease, Nonsense mutation, Neurological disorder, Bioinformatics, Central nervous system disease, Intellectual Disability, Internal medicine, Genetics, medicine, Humans, Paired Box Transcription Factors, Child, Eye Proteins, Aniridia, Genetics (clinical), Homeodomain Proteins, business.industry, medicine.disease, Repressor Proteins, Developmental disorder, Endocrinology, PAX6, aniridia, ataxia, mental retardation, Codon, Nonsense, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Female, PAX6, medicine.symptom, business

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b750f50c2e49915861a5b312dd2deef4Test
https://doi.org/10.1002/ajmg.a.31808Test