نتائج البحث - "Jacques Lombet"

المساهمون: RS: CAPHRI - R2 - Creating Value-Based Health Care, Health Services Research, Institut Català de la Salut, [Boemer F, Beckers P, di Fiore S] Biochemical Genetics Laboratory, Human Genetics, CHU Sart Tilman, University of Liège, B35, 4000 Liège, Belgium. [Caberg JH, Dideberg V] Molecular Genetics Lab, Department of Human Genetics, CHU of Liège, University of Liège, Liège, Belgium. [Bours V] Department of Human Genetics, CHU of Liège, University of Liège, Liège, Belgium. [Blasco-Perez L, Tizzano E] Servei de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, UCL - SSS/DDUV - Institut de Duve, UCL - (SLuc) Service de biochimie médicale

المصدر: Scientific Reports, 11(1):19922. Nature Publishing Group
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Scientific reports, 11 (1
Scientia
Scientific Reports
Scientific reports, Vol. 11, no.1, p. 19922 (2021)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, National Health Programs, Science, Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Neonatal Screening [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], SMN1, Article, Workflow, Muscular Atrophy, Spinal, Food and drug administration, Health Services Administration::Quality of Health Care::Outcome and Process Assessment (Health Care) [HEALTH CARE], Population screening, Neonatal Screening, Belgium, Phénomènes atmosphériques, Outcome Assessment, Health Care, medicine, Cribatge (Medicina), Humans, Pilot program, Infants nadons, Genetic Predisposition to Disease, Public Health Surveillance, Motor neuron disease, Referral and Consultation, Otros calificadores::/terapia [Otros calificadores], diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::cribado neonatal [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Newborn screening, Multidisciplinary, business.industry, Incidence, Infant, Newborn, Disease Management, enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal [ENFERMEDADES], Spinal muscular atrophy, Atròfia muscular espinal - Tractament, Other subheadings::/therapy [Other subheadings], medicine.disease, SMA, Medicine, Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, Spinal [DISEASES], Disease Susceptibility, business, administración de los servicios de salud::calidad de la atención sanitaria::evaluación de resultados y procesos (atención a la salud) [ATENCIÓN DE SALUD]

وصف الملف: 1 full-text file(s): application/pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38d07d46f04cc1b6dd536260a4b351ba
https://cris.maastrichtuniversity.nl/en/publications/fac4ef37-2abb-4f2e-8fae-95295fa09308

Find this article in full text from Springer Verlag.

Find this article in full text from ProQuest

7

Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants

المؤلفون: Alper Soylu, Elke Wühl, Max C. Liebau, Guillaume Dorval, Wanja Bernhardt, Rukshana Shroff, Salim Caliskan, Laura Massella, Gordana Miloševski-Lomić, Ludwig Patzer, Juan David Gonzalez Rodriguez, Klaus Zerres, Katarzyna Taranta-Janusz, Francisco de la Cerda Ojeda, Bahriye Atmis, Bodo B. Beck, Jens König, Nadejda Ranguelov, Claudia Kowalewska, Jörg Dötsch, Florian Erger, Augustina Jankauskiene, Alberto Caldas Afonso, Markus Feldkoetter, Svetlana Papizh, Olivia Boyer, Jérôme Harambat, Franziska Grundmann, Matthias Galiano, Jun Oh, Claire Dossier, Jacques Lombet, Dieter Haffner, Gema Ariceta, Raphael Schild, Ismail Dursun, Ibrahim Gökce, Stella Stabouli, Marcus R. Benz, Rina Rus, Martin Bald, Michaela Gessner, Mieczysław Litwin, Neveen A. Soliman, Djalila Mekahli, Francesco Emma, Nurver Akinci, Loai A. Eid, Cengiz Candan, Alev Yilmaz, Anja Buescher, Lale Sever, Barbara Uetz, Julia Thumfart, Donald Wurm, Beata Bienias, Nadina Ortiz-Bruechle, Ali Duzova, Germana Longo, Przemysław Sikora, Oliver Gross, Susanne Schaefer, Yılmaz Tabel, Sabine Ponsel, Karsten Häffner, Franz Schaefer, Antonio Mastrangelo, Ana Teixeira, Bruno Ranchin, Günter Klaus, Maria Szczepańska, Claudia Dafinger, Andreea Rachisan, Monika Miklaszewska, Aurélie De Mul, Hulya Nalcacioglu, Sevgi Mir, Denis Morin, Katarzyna Zachwieja, Bärbel Lange-Sperandio, William Morello, Marc Fila, Jan Halbritter, Houweyda Jilani, Ute Derichs, Aurelia Morawiec-Knysak, Laure Collard, Małgorzata Stańczyk, Felix Lechner, Francesca Mencarelli, Jakub Zieg, Oliver Dunand, Klaus Arbeiter, Kathrin Burgmaier, Carsten Bergmann, Ilona Zagozdzon, Tomáš Seeman, Larisa Prikhodina, Nakysa Hooman, Lutz T. Weber, Björn Buchholz, Leonie Brinker, Nathalie Godefroid, Simone Wygoda, Hagen Staude

المساهمون: UCL - (SLuc) Service de pédiatrie générale

المصدر: Kidney international, Vol. 100, no.3, p. 650-659 (2021)

وصف الملف: Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a8d4bc309906dd46993a944c7188b5c
https://hdl.handle.net/20.500.12831/6664

8

Vitamin D-Resistant Rickets and Cinacalcet—One More Favorable Experience

المؤلفون: Etienne Cavalier, Ramona C. Nicolescu, Jacques Lombet

المصدر: Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 6 (2018)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8108ba16a627b8e2fe4b4bdc57aeae20
http://europepmc.org/articles/PMC6282023

9

Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease

المؤلفون: Kathrin Burgmaier, Kevin Kunzmann, Gema Ariceta, Carsten Bergmann, Anja Katrin Buescher, Mathias Burgmaier, Ismail Dursun, Ali Duzova, Loai Eid, Florian Erger, Markus Feldkoetter, Matthias Galiano, Michaela Geßner, Heike Goebel, Ibrahim Gokce, Dieter Haffner, Nakysa Hooman, Bernd Hoppe, Augustina Jankauskiene, Guenter Klaus, Jens König, Mieczyslaw Litwin, Laura Massella, Djalila Mekahli, Engin Melek, Sevgi Mir, Lars Pape, Larisa Prikhodina, Bruno Ranchin, Raphael Schild, Tomas Seeman, Lale Sever, Rukshana Shroff, Neveen A. Soliman, Stella Stabouli, Malgorzata Stanczyk, Yilmaz Tabel, Katarzyna Taranta-Janusz, Sara Testa, Julia Thumfart, Rezan Topaloglu, Lutz Thorsten Weber, Dorota Wicher, Elke Wühl, Simone Wygoda, Alev Yilmaz, Katarzyna Zachwieja, Ilona Zagozdzon, Klaus Zerres, Jörg Dötsch, Franz Schaefer, Max Christoph Liebau, Nadejda Ranguelov, Nathalie Godefroid, Laure Collard, Jacques Lombet, Julie Maquet, Gesa Schalk, Uwe Querfeld, Bodo B. Beck, Thomas Benzing, Reinhard Buettner, Franziska Grundmann, Christine Kurschat, Kerstin Benz, Anja Tzschoppe, Björn Buchholz, Rainer Buescher, Karsten Häffner, Martin Pohl, Oliver Gross, Jenny Krügel, Johanna Stock, Ludwig Patzer, Jun Oh, Wanja Bernhardt, Anke Doyon, Tobias Vinke, Anja Sander, Michael Henn, Ute Derichs, Rolf Beetz, Nikola Jeck, Bärbel Lange-Sperandio, Sabine Ponsel, Franziska Kusser, Barbara Uetz, Marcus Benz, Silke Schmidt, Christina Huppertz-Kessler, Birgitta Kranz, Andrea Titieni, Donald Wurm, Heinz E. Leichter, Martin Bald, Heiko Billing, Marwa M. Nabhan, Luis Enrique Lara, Fotios Papachristou, Francesco Emma, Rimante Cerkauskiene, Karolis Azukaitis, Anna Wasilewska, Irena Balasz-Chmielewska, Monika Miklaszewska, Marcin Tkaczyk, Przemyslaw Sikora, Marcin Zaniew, Ania Niemirska, Jolanta Antoniewicz, Justyna Lesiak, Alberto Caldas Afonso, Ana Teixeira, Gordana Milosevski-Lomic, Dusan Paripović, Amira Peco-Antic, Svetlana Papizh, Aysun Karabay Bayazit, Ali Anarat, Alper Soylu, Salih Kavukcu, Cengiz Candan, Salim Caliskan, Nur Canpolat, Sevinc Emre, Harika Alpay, Nurver Akinci, Secil Conkar, Hakan M. Poyrazoglu, Ruhan Dusunsel

المساهمون: Çukurova Üniversitesi, Burgmaier, Kathrin, Kunzmann, Kevin, Ariceta, Gema, Bergmann, Carsten, Buescher, Anja Katrin, Burgmaier, Mathias, Dursun, Ismail, Duzova, Ali, Eid, Loai, Erger, Florian, Feldkoetter, Markus, Galiano, Matthias, Gessner, Michaela, Goebel, Heike, Gokce, Ibrahim, Haffner, Dieter, Hooman, Nakysa, Hoppe, Bernd, Jankauskiene, Augustina, Klaus, Guenter, Koenig, Jens, Litwin, Mieczyslaw, Massella, Laura, Mekahli, Djalila, Melek, Engin, Mir, Sevgi, Pape, Lars, Prikhodina, Larisa, Ranchin, Bruno, Schild, Raphael, Seeman, Tomas, Sever, Late, Shroff, Rukshana, Soliman, Neveen A., Stabouli, Stella, Stanczyk, Malgorzata, Tabel, Yilmaz, Taranta-Janusz, Katarzyna, Testa, Sara, Thumfart, Julia, Topaloglu, Rezan, Weber, Lutz Thorsten, Wicher, Dorota, Wuehl, Elke, Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz, Liebau, Max Christoph

مصطلحات موضوعية: Male, 0301 basic medicine, Time Factors, medicine.medical_treatment, ARPKD, Medizin, 030232 urology & nephrology, PROTEIN, Oligohydramnios, Pediatrics, PKHD1 MUTATIONS, 0302 clinical medicine, Pregnancy, Risk Factors, Prospective Studies, ENCODES, GENOTYPE-PHENOTYPE CORRELATIONS, Obstetrics, Hazard ratio, Autosomal Recessive Polycystic Kidney Disease, CLINICAL-EXPERIENCE, Female, Apgar score, Life Sciences & Biomedicine, renal replacement therapy, medicine.medical_specialty, GENETICS, PKHD1, Risk Assessment, Ultrasonography, Prenatal, 03 medical and health sciences, Renal Dialysis, medicine, Humans, Renal replacement therapy, Dialysis, Polycystic Kidney, Autosomal Recessive, Retrospective Studies, Science & Technology, business.industry, Infant, Newborn, Infant, Retrospective cohort study, medicine.disease, 030104 developmental biology, ciliopathy, Pediatrics, Perinatology and Child Health, business, oligohydramnios, Follow-Up Studies

وصف الملف: Print-Electronic; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f6cfde1e35902f2f1dd74b9ce09f4a8
https://hdl.handle.net/20.500.12605/19675

10

Malignancy-Induced Hypercalcemia—Diagnostic Challenges

المؤلفون: Corina Ramona Nicolescu, Jacques Lombet, Claire Hoyoux

المصدر: Frontiers in Pediatrics, Vol 5 (2017)
Frontiers in Pediatrics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e827137521295289b632fc34cadc036e
http://journal.frontiersin.org/article/10.3389/fped.2017.00233/full

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