Results 1 to 10 of about 13,409 (148)
First report of Kingella kingae diagnosed in pediatric bone and joint infections in Morocco [PDF]
BMC Infectious Diseases, 2021 Background The progress of diagnostic strategies and molecular methods improved the detection of Kingella kingae in bone and joint infections, and now, Kingella kingae is being increasingly recognized as the most frequent cause of bone and joint ...
Kaoutar Moutaouakkil +7 more
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Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance
Frontiers in Endocrinology, 2022 PTH resistance is characterized by elevated parathyroid hormone (PTH) levels, hypocalcemia, hyperphosphatemia and it is classically associated with GNAS locus genetic or epigenetic defects.
Tanguy Demaret +10 more
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Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
HGG Advances, 2022 Summary: Loss-of-function variants in PHD Finger Protein 8 (PHF8) cause Siderius X-linked intellectual disability (ID) syndrome, hereafter called PHF8-XLID.
Andrew K. Sobering +38 more
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Le concept "Une seule santé" : une réponse à l'incertitude dans la gouvernance internationale des zoonoses émergentes ? [PDF]
, 2013 A partir de l'analyse du référentiel "Une seule santé" et de l'évolution des instruments juridiques de l'Organisation mondiale de la santé (OMS) et de l'Organisation mondiale de la santé animale (OIE), nous examinons comment ces organisations ...
Figuié, Muriel, Peyre, Marie-Isabelle
core +6 more sources
Frontiers in Genetics, 2023 Introduction: Exome sequencing has a diagnostic yield ranging from 25% to 70% in rare diseases and regularly implicates genes in novel disorders.
Frédéric Tran Mau-Them +55 more
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“Journées Médicales Balkaniques” 2021, la médecine des Balkans pendant la pandémie de COVID-19 [PDF]
Archives of the Balkan Medical Union, 2021 Entre le 1er et le 2 octobre 2021 s’est déroulée en ligne la 23e édition des “Journées Médicales Balkaniques”, organisée par la Section Nationale Roumaine de l’Union Médicale Balkanique en partenariat avec l’Université de Médecine et de Pharmacie “Carol ...
Camelia C. DIACONU
doaj
BMC Nephrology, 2017 Background Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited disorder of glyoxylate metabolism in which excessive oxalates are formed by the liver and excreted by the kidneys.
Houda Kanoun +7 more
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BMC Cancer, 2018 Background The French West-Indies rank first for both prostate cancer incidence and mortality rates. Analyzing diagnostic and therapeutic procedures among patients with prostate cancer, using data from a population-based cancer registry, is essential for
Clarisse Joachim +11 more
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Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia
Clinical Case Reports, 2019 Campomelic dysplasia (CD) and its variant acampomelic campomelic dysplasia (ACD) are caused by SOX9 haploinsufficiency. This gene encodes a transcription factor crucial for embryogenesis and primarily expressed in the olfactory bulbs.
Marie‐Julie Debuf +7 more
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Frontiers in Immunology, 2019 Influenza virus infections remain a major and recurrent public health burden. The intrinsic ever-evolving nature of this virus, the suboptimal efficacy of current influenza inactivated vaccines, as well as the emergence of resistance against a limited ...
Andrés Pizzorno +25 more
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