المؤلفون: Rachita Singh Dhull, Reena Jain, Bobbity Deepthi, Hae II Cheong, Abhijeet Saha, Mohit Mehndiratta, Srikanta Basu

المصدر: Brazilian Journal of Nephrology, Vol 42, Iss 4, Pp 494-497 (2020)

مصطلحات موضوعية: Familial Hypophosphatemic Rickets, Children, 25-Hydroxyvitamin D3 1-alpha-Hydroxylase, Mutagenesis, Insertional, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002020000400494&tlng=pt; http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002020000400494&tlng=en; https://doaj.org/toc/2175-8239

URL الوصول: https://doaj.org/article/1adc7c8ba3444b39873c7fa789db17c3

المؤلفون: Karine Briot, Rachel K Crowley, Maria Luisa Brandi, Stuart H Ralston, Han-Wook Yoo, Peter Kamenický, Takuo Kubota, Nobuaki Ito, Martine Cohen-Solal, Richard Keen, Angela Williams, Muhammad K Javaid, Hiroyuki Tanaka, Robin H Lachmann, Karl Insogna, Richard Eastell, Yasuhiro Takeuchi, Anthony A Portale, Thomas O Carpenter, Hae Ii Cheong, Yasuo Imanishi, Steven Ing, Suzanne Jan de Beur, Farzana Perwad, Pisit Pitukcheewanont, Thomas J Weber, Annabel Nixon, Mark Nixon, Erik A Imel

المصدر: RMD Open, Vol 7, Iss 3 (2021)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://rmdopen.bmj.com/content/7/3/e001714.full; https://doaj.org/toc/2056-5933

URL الوصول: https://doaj.org/article/1583f1afe5a54ea596b4387156690961

المؤلفون: Gabriela Sevignani, Giovana Memari Pavanelli, Sibele Sauzem Milano, Bianca Ramos Ferronato, Maria Aparecida Pachaly, Hae II Cheong, Mauricio de Carvalho, Fellype Carvalho Barreto

المصدر: Brazilian Journal of Nephrology, Iss 0 (2018)

مصطلحات موضوعية: Insuficiência Renal Crônica, Trombocitopenia, Síndrome Nefrótica, Doenças Genéticas Inatas, Doenças Raras, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002018005011103&lng=en&tlng=en; https://doaj.org/toc/2175-8239

URL الوصول: https://doaj.org/article/cd44cc95bff5430696ffa9b62ef0f0ba

المؤلفون: Jiwon M. Lee, Kandai Nozu, Dae Eun Choi, Hee Gyung Kang, II-Soo Ha, Hae II Cheong

المصدر: Journal of Clinical Medicine, Vol 8, Iss 2, p 178 (2019)

مصطلحات موضوعية: Alport syndrome, autosomal recessive inheritance, systematic review, COL4A3 gene, COL4A4 gene, mutation, Medicine

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2077-0383/8/2/178; https://doaj.org/toc/2077-0383

URL الوصول: https://doaj.org/article/f7b890504ab248fa85b534b45f35c1a6

المؤلفون: Thomas Weber, Karl L. Insogna, Stuart H. Ralston, Farzana Perwad, Erik A. Imel, Mark Nixon, Hae Ii Cheong, Richard Eastell, Nobuaki Ito, Robin H. Lachmann, Suzanne M. Jan de Beur, Yasuo Imanishi, Angela Williams, Martine Cohen-Solal, Peter Kamenicky, Wei Sun, Annabel Nixon, Pisit Pitukcheewanont, Anthony A. Portale, Thomas O. Carpenter, Muhammad Javaid, Karine Briot, Hiroyuki Tanaka, Maria Luisa Brandi, Steven W. Ing, Rachel K Crowley, Takuo Kubota, Han Wook Yoo, Richard Keen, Yasuhiro Takeuchi

المصدر: RMD Open, Vol 7, Iss 3 (2021)
RMD Open

مصطلحات موضوعية: Adult, medicine.medical_specialty, WOMAC, Immunology, Osteoarthritis, Placebo, Antibodies, Monoclonal, Humanized, Rheumatology, therapeutics, Immunology and Allergy, Medicine, Humans, Trial registration, outcome assessment, Brief Fatigue Inventory, business.industry, Treatments, healthcare, Antibodies, Monoclonal, medicine.disease, humanities, Walk test, patient reported outcome measures, Ambulatory, Physical therapy, Familial Hypophosphatemic Rickets, Open label, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63cd553f48f41260bba3c6ca756adb47
https://eprints.whiterose.ac.uk/178786/1/e001714.full.pdf

المؤلفون: Reena Jain, Srikanta Basu, Mohit Mehndiratta, Hae Ii Cheong, Bobbity Deepthi, Rachita Singh Dhull, Abhijeet Saha

المصدر: Brazilian Journal of Nephrology v.42 n.4 2020
Jornal Brasileiro de Nefrologia
Sociedade Brasileira de Nefrologia (SBN)
instacron:SBN
Brazilian Journal of Nephrology, Volume: 42, Issue: 4, Pages: 494-497, Published: 11 SEP 2020
Brazilian Journal of Nephrology, Issue: ahead, Published: 11 SEP 2020
Brazilian Journal of Nephrology, Vol 42, Iss 4, Pp 494-497 (2020)

مصطلحات موضوعية: Vitamin, Pediatrics, medicine.medical_specialty, 25-Hidroxivitamina D3 1-alfa-Hidroxilase, Calcitriol, Crianças, 25-Hydroxyvitamin D3 1-alpha-hydroxylase, 030209 endocrinology & metabolism, Rickets, Case Report, Raquitismo Hipofosfatêmico Familiar, 03 medical and health sciences, chemistry.chemical_compound, Mutagênese Insercional, 0302 clinical medicine, Vitamin D and neurology, Medicine, Humans, Vitamin D, Children, 25-Hydroxyvitamin D3 1-alpha-Hydroxylase, business.industry, Siblings, General Medicine, medicine.disease, Diseases of the genitourinary system. Urology, Familial Hypophosphatemic Rickets, Hypophosphatemic Rickets, Mutagenesis, Insertional, chemistry, Mutation (genetic algorithm), Mutation, lipids (amino acids, peptides, and proteins), RC870-923, business, 030217 neurology & neurosurgery, medicine.drug

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dd60406ec1d83d3478e56f7e06c6de1
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002020000400494

المؤلفون: Briot, Karine, Portale, Anthony A., Brandi, Maria Luisa, Carpenter, Thomas O., Hae Ii Cheong, Cohen-Solal, Martine, Crowley, Rachel K., Eastell, Richard, Yasuo Imanishi, Ing, Steven, Insogna, Karl, Nobuaki Ito, de Beur, Suzanne Jan, Javaid, Muhammad K., Kamenicky, Peter, Keen, Richard, Takuo Kubota, Lachmann, Robin H., Perwad, Farzana, Pitukcheewanont, Pisit

المصدر: RMD Open; Dec2021, Vol. 7 Issue 3, p1-10, 10p

المؤلفون: Young Hoon Cho, Jongwon Ha, Hee Gyung Kang, Yo Han Ahn, Hae Ii Cheong, Eujin Park, Sang Ii Min, Kyung Chul Moon, Hye Sun Hyun, Ii Soo Ha

المصدر: Journal of Clinical Medicine
Volume 8
Issue 4
Journal of Clinical Medicine, Vol 8, Iss 4, p 491 (2019)

مصطلحات موضوعية: medicine.medical_specialty, medicine.medical_treatment, 030232 urology & nephrology, lcsh:Medicine, Viremia, kidney allograft, 030204 cardiovascular system & hematology, medicine.disease_cause, Gastroenterology, Article, Nephropathy, 03 medical and health sciences, 0302 clinical medicine, BK virus, children, Internal medicine, medicine, BK Virus Infection, Alport syndrome, business.industry, lcsh:R, BK virus nephropathy, Immunosuppression, General Medicine, medicine.disease, Transplantation, business, Viral load, transplantation

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e09b576173fecbb92b1b5607a8d3c2f

المؤلفون: Ii Soo Ha, Jiwon Lee, Young Seo Park, Eujin Park, Woong-Yang Park, Yo Han Ahn, Hee Gyung Kang, Hae Ii Cheong, Joo Hoon Lee, Nayoung K.D. Kim

المصدر: Pediatric Nephrology. 31:113-119

مصطلحات موضوعية: Adult, Liver Cirrhosis, Male, 0301 basic medicine, Nephrology, medicine.medical_specialty, Pathology, Adolescent, Caroli disease, Gastroenterology, Young Adult, 03 medical and health sciences, Predictive Value of Tests, Risk Factors, Nephronophthisis, Internal medicine, Republic of Korea, medicine, Polycystic kidney disease, Humans, Genetic Predisposition to Disease, Choledochal cysts, Genetic Testing, Renal Insufficiency, Chronic, Child, Encephalocele, Polycystic Kidney, Autosomal Recessive, Polycystic Kidney Diseases, business.industry, Age Factors, Genetic Diseases, Inborn, Infant, Prognosis, medicine.disease, Caroli Disease, Autosomal Recessive Polycystic Kidney Disease, Phenotype, 030104 developmental biology, Child, Preschool, Pediatrics, Perinatology and Child Health, Kidney Failure, Chronic, Congenital hepatic fibrosis, Female, Differential diagnosis, business, Ciliary Motility Disorders

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97c0235b70a352b3e3d010b4891cb342
https://doi.org/10.1007/s00467-015-3185-4

Alternate Title: Raquitismo dependente de vitamina D: tipo 1: série de casos de dois irmãos com mutação CYP27B1 e revisão da literatura. (Portuguese)

المؤلفون: Dhull, Rachita Singh, Jain, Reena, Deepthi, Bobbity, Hae II Cheong, Saha, Abhijeet, Mehndiratta, Mohit, Basu, Srikanta

المصدر: Brazilian Journal of Nephrology / Jornal Brasileiro de Nefrologia; out-dez2020, Vol. 42 Issue 4, p494-497, 4p