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 TitleAuthors / EditorsDate
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A child with a systemic febrile illness - differential diagnosis and management Hofer, Michael; Mahlaoui, Nizar; Prieur, Anne-Marie 2006
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A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3 Sertie, A. L.; Quimby, M.; Moreira, E. S.; Murray, J.; ... Passos-Bueno, M. R. 1996
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A review of age-related dehydroepiandrosterone decline and its association with well-known geriatric syndromes: is treatment beneficial? Samaras, Nicolaos; Samaras, Dimitrios; Frangos Lordos, Emilia; Forster, Alexandre; Philippe, Jacques 2013
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Amicrobial pustulosis of the folds associated with auto-immune disorders. A case report with an analysis of cytokine expression profile in skin lesions of cutaneous neutrophilic lupus Antille, Christophe; Frei, Magdalena; Sorg, Olivier; Tran, Christel; ... Saurat, Jean-Hilaire 2008
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An MRL/MpJ-lpr/lpr substrain with a limited expansion of lpr double-negative T cells and a reduced autoimmune syndrome Fossati-Jimack, Liliane; Takahashi, Satoru; Merino, Ramon; Iwamoto, Masahiro; ... Izui, Shozo 1993
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Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome Deutsch, Samuel; Rideau, Alexandra; Bochaton-Piallat, Marie-Luce; Merla, Giuseppe; ... Beris, Photis 2003
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Association of Motoric Cognitive Risk Syndrome With Brain Volumes: Results From the GAIT Study Beauchet, Olivier; Allali, Gilles; Annweiler, Cédric; Verghese, Joe 2016
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Autoimmune syndrome after induction of neonatal tolerance to alloantigens. CD4+ T cells from the tolerant host activate autoreactive F1 B cells Merino, Jesus; Schurmans, Stephane; Duchosal, M. A.; Izui, Shozo; Lambert, Paul Henri 1989
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Borréliose de Lyme - 3ème partie : Prévention, grossesse, états d'immunodéficience, syndrome post-borréliose de Lyme Evison, J; Aebi, Christoph; Francioli, P; Péter, O; ... Weber, R 2006
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Bouveret's syndrome: management and strategy of a rare cause of gastric outlet obstruction Buchs, Nicolas; Azagury, Dan Elison; Chilcott, Michael John; Nguyen-tang, Thai; ... Morel, Philippe 2007
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Brief report: incubation and duration of specific symptoms at acute retroviral syndrome as independent predictors of progression to AIDS Vanhems, Philippe; Voirin, Nicolas; Hirschel, Bernard; Cooper, David; ... Perrin, Luc 2003
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Candidate gene analysis in three families with acilia syndrome Wessels, Marja W.; Avital, Avraham; Failly, Mike; Munoz, Analia; ... Willems, Patrick J. 2008
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval Ducros, A; Nagy, T; Alamowitch, S; Nibbio, A; ... Tournier-Lasserve, E 1996
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Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology Ripperger, Tim; Von Bueren, André 2017
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Chronic administration of neuropeptide Y into the lateral ventricle of C57BL/6J male mice produces an obesity syndrome including hyperphagia, hyperleptinemia, insulin resistance, and hypogonadism Raposinho, PD; Pierroz, DD; Broqua, Pierre; White, R B; ... Aubert, Michel 2001
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Clinical features and resolution of food protein-induced enterocolitis syndrome: 10-year experience Caubet, Jean-Christoph Roger J-P; Ford, Lara Simone; Sickles, Laura; Järvinen, Kirsi M; ... Nowak-Węgrzyn, Anna 2014
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Clinical features of acute retroviral syndrome differ by route of infection but not by gender and age Vanhems, Philippe; Routy, J. P.; Hirschel, Bernard; Baratin, Dominique; ... Perrin, Luc 2002
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Cured by tonsillectomy: was it really a PFAPA syndrome? Hofer, Michael 2008
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Diagnosis of allergy syndromes: do symptoms always mean allergy? Eigenmann, Philippe 2005
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Differential role of three major New Zealand Black-derived loci linked with Yaa-induced murine lupus nephritis Kikuchi, Shuichi; Fossati-Jimack, Liliane; Moll, Thomas; Amano, Hirofumi; ... Izui, Shozo 2005
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Diogenes Syndrome Assal, Frédéric 2018
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Eosinophilic cellulitis (Wells' syndrome) associated with colon carcinoma Hirsch, Katrin; Ludwig, Ralf J.; Wolter, Manfred; Zollner, Thomas Matthias; ... Boehncke, Wolf-Henning 2005
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Epileptic spasms in epilepsy with myoclonic-atonic seizures (Doose syndrome) Pittau, Francesca; Korff, Christian; Nordli, Douglas 2016
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Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease de Pontual, L.; Pelet, A.; Clement-Ziza, M.; Trochet, D.; ... Amiel, J. 2007
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Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes Stekelenburg, Caroline; Gerster, Karine; Blouin, Jean-Louis; Lang-Muritano, Mariarosaria; ... Schwitzgebel Luscher, Valérie 2019
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Familial frontotemporal dementia with ubiquitin inclusion bodies and without motor neuron disease Kovari, Eniko Veronika; Leuba, G; Savioz, Armand; Saini, Krishan; ... Bouras, Constantin 2000
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FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients Fokstuen, Siv; Antonarakis, Stylianos; Blouin, Jean-Louis 2003
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Frailty syndrome: a transitional state in a dynamic process Lang, Pierre Olivier; Michel, Jean-Pierre; Zekry Berger, Dina Selma 2009
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Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation Everman, D. B.; Morgan, C. T.; Lyle, Robert; Laughridge, M. E.; ... Schwartz, C. E. 2006
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Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome Driess, S.; Freese, K.; Bornholdt, D.; Kobelt, A.; ... Kalff-Suske, M. 2003
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Giant cell lichenoid dermatitis in a patient with baboon syndrome Khelifa-Hamdani, Elhem; Touati-Serraj, Monia; Perriard, Jacqueline; Chavaz, Pierre; ... Kaya, Guerkan 2008
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Human epidermal Langerhans cells express the tight junction protein claudin-1 and are present in human genetic claudin-1 deficiency (NISCH syndrome) Zimmerli, Simone C.; Kerl, Katrin; Hadj-Rabia, Smail; Hohl, Daniel; Hauser, Conrad 2008
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Illness in long-term travelers visiting GeoSentinel clinics Chen, Lin H.; Wilson, Mary E.; Davis, Xiaohong; Loutan, Louis; ... Schlagenhauf, Patricia 2009
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Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3 Krohn, K.; Ovod, V.; Vilja, P.; Heino, M.; ... Peterson, P. 1997
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International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients Hofer, Michael; Pillet, Pascal; Cochard, Marie-Madeleine; Berg, Stefan; ... Gattorno, Marco 2014
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Kjellin's syndrome: fundus autofluorescence, angiographic, and electrophysiologic findings Frisch, Inez B; Haag, Peter; Steffen, Heimo; Weber, Bernhard H F; Holz, Frank G 2002
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Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin Menzel, Olivier; Bekkeheien, R. C.; Reymond, Alexandre; Fukai, Naomi; ... Guipponi, Michel 2004
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Language skills in children with velocardiofacial syndrome (deletion 22q11.2) Glaser, Bronwyn; Mumme, D. L.; Blasey, Christine; Morris, Michael Andréw; ... Eliez, Stéphan 2002
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Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy Rudolf, Gabrielle; Lesca, Gaetan; Fluss, Joel Victor; Abbas, Mohamed 2016
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Lymphoid enhancer factor-1 links two hereditary leukemia syndromes through core-binding factor alpha regulation of ELA2 Li, Feng-Qian; Person, Richard E; Takemaru, Ken-Ichi; Williams, Kayleen; ... Horwitz, Marshall 2004
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MEHMO, a novel syndrome: assignment of disease locus to Xp21.1-p22.13. Mental retardation, epileptic seizures, hypogonadism and genitalism, microcephaly, obesity DeLozier-Blanchet, C; Haenggeli, Charles-Antoine; Bottani, Armand 1999
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Mitral valve repair in a patient with Ter Haar Syndrome Barlas, Semih; Ugurlucan, Murat; Ayhan, Yusuf I; Kalangos, Afksendiyos; Barlas, Cemil 2006
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Motoric Cognitive Risk Syndrome Subtypes and Cognitive Profiles Allali, Gilles; Ayers, Emmeline I; Verghese, Joe 2016
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Moving with or without will: functional neural correlates of alien hand syndrome Assal, Frédéric; Schwartz, Sophie; Vuilleumier, Patrik 2007
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Multicenter EuroTravNet/GeoSentinel study of travel-related infectious diseases in Europe Gautret, Philippe; Schlagenhauf, Patricia; Gaudart, Jean; Castelli, Francesco; ... Parola, P. 2009
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Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients Wattenhofer, Marie; Di Iorio, M. V.; Rabionet, Raquel; Dougherty, Loretta; ... Antonarakis, Stylianos 2002
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Neural control of the anorexia-cachexia syndrome Laviano, Alessandro; Inui, Akio; Marks, Daniel L.; Meguid, Michael M.; ... Seelaender, Marilia 2008
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NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects Lu, Weining; Quintero-Rivera, Fabiola; Fan, Yanli; Alkuraya, Fowzan S; ... Maas, Richard L 2007
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Non-IgE-mediated gastrointestinal food allergies Biermé, Priscille; Nowak-Wegrzyn, Anna; Caubet, Jean-Christoph Roger J-P 2017
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Non-IgE-mediated gastrointestinal food allergies in children Caubet, Jean-Christoph Roger J-P; Szajewska, Hania; Shamir, Raanan; Nowak-Węgrzyn, Anna 2017
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