Search Results - "rare diseases"

Systemic vasculitis associated with anti neutrophil cytoplasmic antibodies in Bulgaria - epidemiological, health-demographic and clinical-pharmacological real-world data by Iva Parvova, Tzvetomir Delyiski, Parvoleta Peteva, Lubomir Marinchev, Emil Hristov, Emanuil Yordanov, Valentina Petkova

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Intrahepatic Cholangiocarcinoma Skin Metastasis in a Patient with Hidradenitis Suppurativa: A Rare Entity by Ali Y Fakhreddine, Theresa Yang, Guanghong Liao, Bahman Chavoshan

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Double homozygous Cystic Fibrosis Transmembrane Regulator gene (CFTR) mutation: A case series and review of the literature by Hanaa Banjar, Wesam Alkassas, Firas Ghomraoui, Reem Ghomraoui, Nabil Moghrabi

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A Rare Cause of Oligohydramnios: A Case Report by Nadia Ben Jamaa, Radhouane Achour, Imen KSIBI, Mohamed Tahar Yacoubi, Sihem Hmissa, Moncef Mokni

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Contribution of model organism phenotypes to the computational identification of human disease genes by Sarah M. Alghamdi, Paul N. Schofield, Robert Hoehndorf

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Gene therapy randomised clinical trials in Europe - a review paper of methodology and design by Krassimira Ilieva, Borislav Borissov, Mondher Toumi

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Incontientia Pigmenti: a genodermatosis beginning in childhood by Roine Alberto Pena Olivera, Leydiani Espin Guerra, Ana Laura Navarro Baldellot

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PRIMARY IMMUNODEFICIENCY: STATUS OF A PROBLEM TODAY. RUSSIAN NETWORK OF JMF-CENTERS by E. A. Latysheva

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Think Big, Start Small: How Nanomedicine Could Alleviate the Burden of Rare CNS Diseases by Abdelfattah Faouzi, Valérie Gaëlle Roullin

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The Relationship Between Alzheimer’s Disease and Skin Diseases: A Review by Zhang H, Zhang D, Tang K, Sun Q

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Development of a Model for Quantitative Assessment of Newborn Screening in Japan Using the Analytic Hierarchy Process by Keiko Konomura, Eri Hoshino, Kotomi Sakai, Takashi Fukuda, Go Tajima

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Fatal Postpartum Hemorrhage in a Patient with Niemann-Pick Disease Type B by Atakan Tanacan, Abdullah Yalcin, Canan Unal, Seda Banu Akinci, Mehmet Sinan Beksac

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How to cope with complexity and adapt new scenarios to patient care by Sergio Dompé

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Almost slipped through the crack: Pediatric patient with bilateral slipped rib syndrome and twelfth rib syndrome of the eleventh ribs by Lilly Su, Alicia Greene, Anthony Tsai

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Integrative chemogenomic analysis identifies small molecules that partially rescue ΔF508‐CFTR for cystic fibrosis by Rachel A. Hodos, Matthew D. Strub, Shyam Ramachandran, Ella A. Meleshkevitch, Dmitri Y. Boudko, Robert J. Bridges, Joel T. Dudley, Paul B. McCray Jr

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Impact of Equine-Assisted Interventions on Heart Rate Variability in Two Participants with 22q11.2 Deletion Syndrome: A Pilot Study by Maria Amado-Fuentes, Margarita Gozalo, Andres Garcia-Gomez, Sabina Barrios-Fernandez

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Escabiosis: a propósito de un brote Escabiosis: a clinical outbrake by Ismael Silvino Diana Domínguez, María Dolores Hernández Saiz, María Isabel Fiz Sánchez, Amada López Iniesta

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De novo chronic lymphocytic leukemia/prolymphocytic leukemia or B-cell prolymphocytic leukemia? The importance of integrating clinico-morphological and immunophenotypic findings in... by Zachariah Chowdhury, Yookarin Khonglah, Susmita Sarma, Pranjal Kalita

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Integrated analysis on the "toxicity-efficacy" of toxic Chinese materia medica by Xiaoqi PAN, Cheng PENG

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Shprintzen-goldberg craniosynostosis: craniofacial and oral characteristics, diagnosis, and clinical management of a very rare syndrome by Danielle Monsores VIEIRA, Florense Gabriela SILVA, Michele Baffi DINIZ, Maria Cristina Duarte FERREIRA, Maria Teresa Botti Rodrigues dos SANTOS, Renata Oliveira GUARÉ

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