المؤلفون: Silviu Grisaru, Melissa A. Morgunov, Susan M. Samuel, Julian P. Midgley, Andrew W. Wade, James B. Tee, Lorraine A. Hamiwka

المصدر: International Journal of Nephrology, Vol 2011 (2011)

مصطلحات موضوعية: Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-214X; https://doaj.org/toc/2090-2158

URL الوصول: https://doaj.org/article/053fa7dc8a4844dbb47c2e5653eecfbb

المؤلفون: Julian P. Midgley

المصدر: Pediatric Nephrology. 34:917-920

مصطلحات موضوعية: Nephrology, medicine.medical_specialty, business.industry, media_common.quotation_subject, Cystinosis, Nonsense mutation, Nonsense, Fibroblasts, Bioinformatics, medicine.disease, Amino Acid Transport Systems, Neutral, Aminoglycosides, Codon, Nonsense, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Humans, Effective treatment, Gentamicins, business, media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbb37ee8ef9ec149a63aeebac472ad4b
https://doi.org/10.1007/s00467-018-4173-2

المؤلفون: Xing Chang Wei, David S. Sinasac, Kellie Davis, Duncan Webster, Patrick Ferreira, Yolanda Foster, Miao He, Julian P. Midgley, Walla Al-Hertani, Xueli Li, Sheryl Jackson, L.E. Seargeant, Christopher Smith

المصدر: Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 55-63 (2017)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: 0301 basic medicine, Cutis marmorata, Pediatrics, medicine.medical_specialty, Transferrin isoelectrofocusing type 1 pattern, Lethal skeletal dysplasia, Case Report, Bioinformatics, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Genetics, medicine, CDG-IL, Congenital disorders of glycosylation, lcsh:QH301-705.5, Molecular Biology, lcsh:R5-920, Mutation, business.industry, ALG9-CDG, medicine.disease, Phenotype, 030104 developmental biology, lcsh:Biology (General), In utero, ALG9, Failure to thrive, Clinical case, medicine.symptom, Lipodystrophy, lcsh:Medicine (General), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f81557d000d25bfa6db9114563d50c3
https://doi.org/10.1016/j.ymgmr.2017.08.004

المؤلفون: Otto G Vanderkooi, James D Kellner, Andrew W Wade, Tajdin Jadavji, Julian P Midgley, Thomas Louie, Gregory J Tyrrell

المصدر: Canadian Journal of Infectious Diseases, Vol 14, Iss 6, Pp 339-343 (2003)

مصطلحات موضوعية: Infectious and parasitic diseases, RC109-216

Relation: http://dx.doi.org/10.1155/2003/219027; https://doaj.org/toc/1180-2332; https://doaj.org/article/b5cd9964212849dca9aa5aa9750cb86d

الاتاحة: https://doi.org/10.1155/2003/219027
https://doaj.org/article/b5cd9964212849dca9aa5aa9750cb86d

المؤلفون: Luis Murguia-Favela, Nicola A.M. Wright, Tatiana Kalashnikova, Francois P. Bernier, Joanne Luider, Julian P. Midgley

المصدر: Journal of Clinical Immunology

مصطلحات موضوعية: medicine.medical_specialty, Immune system, business.industry, Family medicine, Published Erratum, Immunology, medicine, MEDLINE, Correction, Immunology and Allergy, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83dc72f88c89e0c6d2f0db4fd6faadc6
https://doi.org/10.1007/s10875-020-00818-2

المؤلفون: Catherine Morgan, Ari R. Joffe, Bryan V. Acton, Rachel Joffe, Jillian Popel, Charlene M.T. Robertson, Gwen Y Bond, Julian P. Midgley, Reg Sauve

المصدر: Pediatric nephrology (Berlin, Germany). 34(5)

مصطلحات موضوعية: Nephrology, Male, medicine.medical_specialty, Pediatrics, Time Factors, medicine.medical_treatment, 030232 urology & nephrology, Psychological intervention, Disease, 030204 cardiovascular system & hematology, Neuropsychological Tests, Risk Assessment, Alberta, 03 medical and health sciences, 0302 clinical medicine, Child Development, Renal Dialysis, Risk Factors, Internal medicine, Intervention (counseling), medicine, Humans, Cognitive Dysfunction, Early childhood, Longitudinal Studies, Prospective Studies, Registries, Dialysis, business.industry, Infant, Newborn, Infant, Kidney Transplantation, Treatment Outcome, Child, Preschool, Pediatrics, Perinatology and Child Health, Disease Progression, Kidney Failure, Chronic, Female, Hemodialysis, business, Neurocognitive, Follow-Up Studies, Glomerular Filtration Rate

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57f9cfbcd8a57e1c594ac6793502761e
https://pubmed.ncbi.nlm.nih.gov/30554364

المؤلفون: Jacek Majewski, A. Madrid, Babak Oskouian, Yves Sznajer, Julie Désir, Julie Patat, York Pei, Megan A. Cooper, Weizhen Tan, Elisabet Ars, Monica Furlano, Anne-Sophie Truant, Alain Schmitt, Rainer Wilcken, Won-Il Choi, Navina Kuss, Carolin E. Sadowski, Corinne Antignac, Jillian S. Parboosingh, Vilain Catheline, Marcia C. Willing, Christelle Arrondel, Jia Rao, Vikas R. Dharnidharka, Johanna Magdalena Schmidt, Nicola A.M. Wright, Thomas Giese, Martin Zenker, Brigitte Adams, Franz Schaefer, Richard P. Lifton, Noelle Lachaussée, Merlin Airik, Ingolf Franke, Klaus Schwarz, Julie D. Saba, David Schapiro, Guido Capitani, Seema Hashmi, Howard Riezman, Ronald Biemann, Johann Greil, Vladimir Girik, Anne M Connolly, Shazia Ashraf, Nuria Lloberas, Julian P. Midgley, Denny Schanze, Svjetlana Lovric, Matias Simons, Friedhelm Hildebrandt, Sara Gonçalves, Vincent Vuiblet, Heon Yung Gee, Eugen Widmeier, Tilman Jobst-Schwan, Francois P. Bernier, A. Micheil Innes, Olivier Gribouval, Olivia Boyer, Jung H. Suh, Ryan E. Lamont, Honnappa Srinivas, Daniela A. Braun, Shirlee Shril

المساهمون: UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de néonatologie

المصدر: Journal of Clinical Investigation, Vol. 127, no.3, p. 912-928 (2017)
JOURNAL OF CLINICAL INVESTIGATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Instituto de Salud Carlos III (ISCIII)
Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Clinical Investigation, Vol. 127, No 3 (2017) pp. 912-928
Recercat. Dipósit de la Recerca de Catalunya
instname

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Nephrotic Syndrome, Nephrosis, 030232 urology & nephrology, Síndrome nefròtica, Biology, medicine.disease_cause, Cell Line, 03 medical and health sciences, Mice, 0302 clinical medicine, Cell Movement, Internal medicine, medicine, Chronic renal failure, Animals, Drosophila Proteins, Humans, Exome sequencing, Immunodeficiency, Aldehyde-Lyases, Mice, Knockout, Mutation, Ichthyosis, General Medicine, medicine.disease, Phenotype, 3. Good health, Rats, Protein Transport, 030104 developmental biology, Endocrinology, Drosophila melanogaster, ddc:540, Mesangial Cells, Slit diaphragm, Insuficiència renal crònica, Female, Nephrotic syndrome, Ichthyosis, Lamellar, Research Article

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49e691abe1f6479437ce05e74e30dfd7
https://hdl.handle.net/2078.1/204417

المؤلفون: David Moher, Ai Ni, Frank Rauch, Isabelle Gaboury, Celia Rodd, Julian P. Midgley, Janusz Feber, Tom Blydt-Hansen, Maury Pinsk, Nathalie Alos, John Hay, Guido Filler, L. Bell, Cheril Clarson, Mary-Ann Matzinger, Nazih Shenouda, Diane Hebert, Brian C. Lentle, Steven Arora, Kerry Siminoski, Leanne M Ward

المصدر: Paediatrics Publications

مصطلحات موضوعية: Male, musculoskeletal diseases, medicine.medical_specialty, Nephrotic Syndrome, Adolescent, Bone density, Endocrinology, Diabetes and Metabolism, Nephrotic syndrome, Physiology, Lumbar vertebrae, Drug Administration Schedule, Spinal Curvatures, Thoracic Vertebrae, Article, Absorptiometry, Photon, Bone Density, Internal medicine, Bone mineral density, medicine, Humans, Child, Children, Glucocorticoids, Bone mineral, Vertebral deformities, Lumbar Vertebrae, Anthropometry, business.industry, Infant, musculoskeletal system, medicine.disease, Rheumatology, Endocrinology, medicine.anatomical_structure, Back Pain, Child, Preschool, Thoracic vertebrae, Spinal Fractures, Female, Densitometry, business, Glucocorticoid, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03b028e850eb296623c8d8aab9af748d
https://doi.org/10.1007/s00198-011-1621-2

المؤلفون: Silviu Grisaru, Julian P. Midgley, Andrew Wade, Karen Martz, Lorraine A. Hamiwka

المصدر: Pediatric Transplantation. 12:878-882

مصطلحات موضوعية: Graft Rejection, Male, medicine.medical_specialty, Pediatrics, Adolescent, Urinary system, Population, Genes, Recessive, Chlorides, Nephronophthisis, Chromium Compounds, Humans, Medicine, Registries, Child, education, Kidney transplantation, Transplantation, education.field_of_study, business.industry, Graft Survival, Thrombosis, medicine.disease, Kidney Transplantation, Surgery, Clinical trial, Treatment Outcome, surgical procedures, operative, El Niño, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Kidney Diseases, business, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27904b438b2c5438d9dca271c6d3ea9b
https://doi.org/10.1111/j.1399-3046.2008.00942.x

المؤلفون: Julian P. Midgley, Lorie Hamiwka, Lorraine A. Hamiwka

المصدر: Pediatric Transplantation. 12:527-530

مصطلحات موضوعية: Male, Risk, Pediatrics, medicine.medical_specialty, Adolescent, Neurological disorder, Cohort Studies, Epilepsy, Seizures, Convulsion, medicine, Humans, Family history, Risk factor, Child, Kidney transplantation, Retrospective Studies, Transplantation, business.industry, Electroencephalography, Symptomatic seizures, medicine.disease, Kidney Transplantation, Surgery, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Immunosuppressive Agents

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::497290869366a2bc2237f3ebf7e68243
https://doi.org/10.1111/j.1399-3046.2007.00813.x

المؤلفون: Julian P. Midgley, Kym M. Boycott, Albert E. Chudley, Cheryl R. Greenberg, Lisbeth Birk Møller, D. Ross McLeod, R. Brian Lowry, A. Micheil Innes, B. N. Chodirker, Jillian S. Parboosingh, Francois P. Bernier, Jackie Morris

المصدر: American Journal of Medical Genetics Part A. :1088-1098

مصطلحات موضوعية: medicine.medical_specialty, Genetics, Medical, Population, Genes, Recessive, Biology, Gene mapping, Genetics, medicine, Humans, education, Mendelian disorders, Genetics (clinical), education.field_of_study, Genetic Diseases, Inborn, Infant, Founder Effect, Genetics, Population, Protestantism, Mutation, North America, Mutation (genetic algorithm), Etiology, Medical genetics, Identification (biology), Founder effect

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fe1ff6bebc83d8cb100ba3606b86a9b
https://doi.org/10.1002/ajmg.a.32245

المؤلفون: Rezan Topaloglu, Monte Del Monte, Lambertus P. van den Heuvel, Thomas D. Brown, Victor Gomez, Marcella Greco, Galina Nesterova, Aude Servais, Mirian C. H. Janssen, Julian P. Midgley, Marjolein Bos, Patrick Niaudet, Jerry A. Schneider, William van’t Hoff, Paul Goodyer, Francesco Emma, Leticia Belmont-Martínez, Larry A. Greenbaum, Aurélia Bertholet-Thomas, Georges Deschênes, Maria Helena Vaisbich, Philip Newsholme, Doris A. Trauner, Jess G. Thoene, Patrice Rioux, Paul C. Grimm, Frederick J. Kaskel, Bruce A. Barshop, Graham Lipkin, Valerie Hotz, Oliver Amon, Christy Greeley, Neveen A. Soliman, Elena Levtchenko, Chris Ottolenghi, Maya Doyle, Jie Ding, Stephanie Cherqui, William A. Gahl, Minnie M. Sarwal, Maryan Basurto, Gema Ariceta, Katharina Hohenfellner, Elisabeth A.M. Cornelissen, Ranjan Dohil, Ewa Elenberg, Craig B. Langman, Teresa Holm, Rita Magriço

المصدر: Kidney International. Supplement, 89, 6, pp. 1192-203
Kidney International. Supplement, 89, 1192-203

مصطلحات موضوعية: Adult, 0301 basic medicine, medicine.medical_specialty, Systemic disease, Pathology, Adolescent, Cysteamine, Cystinosis, 030232 urology & nephrology, Graft vs Host Disease, Disease, 03 medical and health sciences, chemistry.chemical_compound, Rare Diseases, 0302 clinical medicine, Renal Dialysis, Nephropathic Cystinosis, medicine, Humans, Genetic Testing, Child, Cystine Depleting Agents, Intensive care medicine, Immunosuppression Therapy, business.industry, Age Factors, Hematopoietic Stem Cell Transplantation, Infant, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genetic Therapy, Congresses as Topic, Fanconi Syndrome, medicine.disease, Kidney Transplantation, Amino Acid Transport Systems, Neutral, 030104 developmental biology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Cystinosin, chemistry, Nephrology, Mutation, Cystine, Kidney Failure, Chronic, Biomarker (medicine), Lysosomes, business, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::635546248ea09931552c6117da8853cf
https://hdl.handle.net/2066/172214

المؤلفون: Bernard N. Chodirker, A. Micheil Innes, Julian P. Midgley, Jillian S. Parboosingh, Kym M. Boycott, Francois P. Bernier, T. Mary Fujiwara, Andrew Wade, James N. Scott, Martin Bunge, Jean K. Mah, D. Ross McLeod, Cheryl R. Greenberg

المصدر: American Journal of Medical Genetics Part A. :1715-1725

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Developmental Disabilities, Chromosome Disorders, Joubert syndrome, Encephalocele, Diagnosis, Differential, Ethnicity, Genetics, medicine, Humans, Spinocerebellar Ataxias, Hypertelorism, Child, Meckel syndrome, Genetics (clinical), Chromosome Aberrations, Cystic kidney, Occipital encephalocele, Polydactyly, business.industry, Infant, Manitoba, Syndrome, Anatomy, medicine.disease, Hypotonia, Meckel Diverticulum, Child, Preschool, Female, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ff5735c6f832be55a29aaa707f1b67f
https://doi.org/10.1002/ajmg.a.31832

المؤلفون: Alexander G. Logan, Julian P. Midgley, Robert Parkes, G. V. Ramesh Prasad, Robert A. Hegele, Shelley B. Bull, Dushanthi Pinnaduwage, J. Williamson Balfe, Edward H. Cole

المصدر: Transplantation. 75:209-216

مصطلحات موضوعية: Transplantation, medicine.medical_specialty, Creatinine, Renal function, Biology, medicine.disease, Essential hypertension, Gastroenterology, Genotype frequency, chemistry.chemical_compound, Endocrinology, chemistry, Internal medicine, Genotype, medicine, Prospective cohort study, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::62e810250e42e7d472e04af840ffc5f7
https://doi.org/10.1097/01.tp.0000040866.14123.05

المؤلفون: Tajdin Jadavji, Thomas J. Louie, Andrew Wade, Julian P. Midgley, James D. Kellner, Otto G. Vanderkooi, Gregory J Tyrell

المصدر: Canadian Journal of Infectious Diseases, Vol 14, Iss 6, Pp 339-343 (2003)

مصطلحات موضوعية: Microbiology (medical), Serotype, Article Subject, Case Report, medicine.disease_cause, urologic and male genital diseases, Microbiology, lcsh:Infectious and parasitic diseases, hemic and lymphatic diseases, Streptococcus pneumoniae, medicine, Pulsed-field gel electrophoresis, lcsh:RC109-216, biology, medicine.diagnostic_test, business.industry, Shiga toxin, medicine.disease, Empyema, female genital diseases and pregnancy complications, Penicillin, Pneumonia, Immunology, biology.protein, Renal biopsy, business, medicine.drug

وصف الملف: text/xhtml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff9088718a3ced9d80d01bf2ba6dfbae
https://doaj.org/article/b5cd9964212849dca9aa5aa9750cb86d

المؤلفون: Sharon Lagas, Daniel Renault, Clifford E. Kashtan, Oliver Gross, Frances Flinter, Daniel P. Gale, Susie Gear, Judith Savige, Dave Blatt, Sue Povey, A Neil Turner, Jeffrey H. Miner, Parminder K. Judge, Marco Prunotto, Jie Ding, Colin Baigent, Julian P. Midgley, Jules Skelding

المصدر: Kidney International

مصطلحات موضوعية: medicine.medical_specialty, ACE inhibitors, 030232 urology & nephrology, glomerulus, Disease, Meeting Report, urologic and male genital diseases, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Renal fibrosis, otorhinolaryngologic diseases, Alport syndrome, 030304 developmental biology, Genetic testing, 0303 health sciences, Kidney, Proteinuria, medicine.diagnostic_test, business.industry, Glomerular basement membrane, proteinuria, medicine.disease, 3. Good health, medicine.anatomical_structure, Nephrology, Immunology, medicine.symptom, business, Nephritis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e332164a5ca7b121e20ae6c47bef3d31
http://ora.ox.ac.uk/objects/uuid:2dc68327-d735-4971-9f37-05fd8a4d42a4

المؤلفون: Julian P. Midgley, Lorraine A. Hamiwka, Andrew Wade, Silviu Grisaru, M. Hanna

المصدر: Transplantation Proceedings. 40:1404-1406

مصطلحات موضوعية: musculoskeletal diseases, Longitudinal study, medicine.medical_specialty, Adolescent, Urology, Renal function, Bone Density, medicine, Humans, Longitudinal Studies, Child, Kidney transplantation, Retrospective Studies, Bone mineral, Transplantation, Kidney, business.industry, Retrospective cohort study, medicine.disease, Kidney Transplantation, Body Height, Surgery, medicine.anatomical_structure, Cohort, Kidney Diseases, Bone Diseases, business, Glomerular Filtration Rate

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::102e4e8a66700916ca4e537d81fba488
https://doi.org/10.1016/j.transproceed.2008.03.098

المؤلفون: Julian P. Midgley, Scott K. VanWhy, Gregory Braden, Robert Reid, Donald I. Moel, Richard R. Hoopes, Alicia M. Neu, Steven J. Scheinman, Paul Hueber, Andrew R. Melnyk, Paul Goodyer

المصدر: Kidney International. 54:698-705

مصطلحات موضوعية: Adult, Male, Proband, chloride channel, X Chromosome, Adolescent, Genetic Linkage, kidney stones, Molecular Sequence Data, Nonsense mutation, 030232 urology & nephrology, Rickets, medicine.disease_cause, Kidney Calculi, 03 medical and health sciences, 0302 clinical medicine, Chloride Channels, rickets, medicine, Humans, Hypercalciuria, Amino Acid Sequence, Child, X-linked nephrolithiasis, Aged, 030304 developmental biology, Aged, 80 and over, Genetics, 0303 health sciences, Mutation, Dent's disease, biology, business.industry, CLCN5, Middle Aged, medicine.disease, 3. Good health, Nephrology, biology.protein, Female, Nephrocalcinosis, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34c55ccb7ac676968f7bc71ba29233f2
https://doi.org/10.1046/j.1523-1755.1998.00061.x

المؤلفون: Sulaiman Alsaidi, Andrew Wade, Daniel J Wagner, Silviu Grisaru, Julian P. Midgley, Lorraine A. Hamiwka, Susan Samuel, Alberto Nettel-Aguirre

المصدر: Canadian Journal of Kidney Health and Disease, Vol 4 (2017)
Canadian Journal of Kidney Health and Disease

مصطلحات موضوعية: medicine.medical_specialty, hypertension, 030232 urology & nephrology, Renal function, 030204 cardiovascular system & hematology, lcsh:RC870-923, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Interquartile range, Internal medicine, Medicine, Minimal change disease, Original Research Article, Intensive care medicine, glomerular filtration rate, Creatinine, business.industry, steroid-sensitive nephrotic syndrome, Retrospective cohort study, lcsh:Diseases of the genitourinary system. Urology, medicine.disease, calcineurin inhibitors, minimal change disease, Blood pressure, chemistry, Nephrology, Cohort, business, Nephrotic syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f213d7063865bce04e322c8bcb82b4c
https://doi.org/10.1177/2054358117709496

المؤلفون: Reyhan El-Kares, Paul Goodyer, François Mathieu, Julian P. Midgley

المصدر: Pediatric nephrology (Berlin, Germany). 26(8)

مصطلحات موضوعية: Proband, Male, medicine.medical_specialty, Pediatrics, Adolescent, Cysteamine, Cystinosis, Radiation-Protective Agents, chemistry.chemical_compound, Tubulopathy, Nephropathic Cystinosis, Internal medicine, Medicine, Humans, Age of Onset, Child, Base Sequence, business.industry, Exons, Middle Aged, medicine.disease, Kidney Transplantation, Pedigree, Transplantation, Endocrinology, Amino Acid Transport Systems, Neutral, Cystinosin, chemistry, Nephrology, Pediatrics, Perinatology and Child Health, Age of onset, business, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79e20f27f0855f7fb10e96f1b5a0ca53
https://pubmed.ncbi.nlm.nih.gov/21553323