Search Results - "rare diseases"

Neurodevelopmental outcome and respiratory management of congenital central hypoventilation syndrome: a retrospective study by Tomomi Ogata, Kazuhiro Muramatsu, Kaori Miyana, Hiroshi Ozawa, Motoki Iwasaki, Hirokazu Arakawa

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Standardisation of rates using logistic regression: a comparison with the direct method by Wilson Sue, Holder Roger L, Roalfe Andrea K

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MICROSURGICAL TREATMENT OF DISTAL POSTERIOR INFERIOR CEREBELLAR ARTERY ANEURYSM DURING THE COLD PERIOD AFTER SPONTANEOUS INTRACRANIAL HEMORRHAGE: A CASE REPORT by N.O. RAKHIMOV, KH.D. RAKHMONOV, D.R. SANGINOV, M.V. DAVLATOV

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Consensus Guidelines for the Use of Vosoritide in Children with Achondroplasia in Australia by Louise Tofts, Penny Ireland, Tracy Tate, Supriya Raj, Theresa Carroll, Craig F. Munns, Stephen Knipe, Katherine Langdon, Lesley McGregor, Fiona McKenzie, Andreas Zankl, Ravi Savarirayan

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Ureteral atresia presenting as an abdominal cyst: A case report by Amir Ibrahim, Mohamed Mansy, Mostafa Kotb, Mohamed Abokandil, Saber Waheeb

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Mechanisms Mediating Pediatric Severe Asthma and Potential Novel Therapies by Aldara Martin Alonso, Sejal Saglani, Sejal Saglani

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Połowiczy zanik twarzy bez zmian w ośrodkowym układzie nerwowym i twardzina en coup de sabre z guzem zewnątrzmózgowym - opis przypadków by Ligia Brzezińska-Wcisło, Anna Lis-Święty, Beata Bergler-Czop

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Phenotype and Genotype of Two Taiwanese Cystic Fibrosis Siblings and a Survey of Delta F508 in East Asians by Chao-Jen Lin, Shun-Ping Chang, Yu-Yuan Ke, Han-Yao Chiu, Lon-Yen Tsao, Ming Chen

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Telangiectasia Macularis Eruptiva Perstans: more than skin deep by Casey E. Watkins, Winston B. Bokor, Stuart Leicht, George Youngberg, Guha Krishnaswamy

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Can cell salvage be used for resuscitation in a patient with amniotic fluid embolism and hepatic laceration? A case report by Ping Li, Linli Luo, Dong Luo, Rurong Wang

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Infection Prevention and Management in Pediatric Short Bowel Syndrome by Laura Merras-Salmio, Laura Merras-Salmio, Mikko P. Pakarinen, Mikko P. Pakarinen

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A Perfect Storm: Abdominal Pain and Ileus Explained by Acute Intermittent Porphyria Caused by Prehospitalization and Intrahospitalization Factors by Andrew J. Ortega DO, Sundar Cherukuri DO, M. Ammar Kalas MD, Brian Lee DO, Jesus Guzman MD, Alejandro Robles MD, Marc J. Zuckerman MD, Ihsan Al-Bayati MD

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Novel HAX1 Gene Mutation in a Vietnamese Boy with Severe Congenital Neutropenia by Tham Thi Tran, Quang Van Vu, Taizo Wada, Akihiro Yachie, Huong Le Thi Minh, Sang Ngoc Nguyen

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Uterine lymphangioleiomyomatosis in a premenopausal woman with tuberous sclerosis: A case report by Eun Min Lee, Ju Hee Kim, Uiree Jo, Yoon Jung Cho

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Influence of Cleft Lip and Palate on Oral Health-Related Quality of Life in Northern Italy: Exploring Both the Children's and Caregivers' Perspectives by Patrizia Defabianis, Rossella Ninivaggi, Federica Romano

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Aïnhum: Aspects cliniques, radiographiques et thérapeutiques à propos de 3 cas by Amina Nomtondo Ouédraogo, Patrick Wendpouiré Hamed Dakouré, Maodo Ndiaye, Seraphine Zeba/Lompo, Fagnima Traoré, Sayouba Tinto, Sidnoma Muriel Ouédraogo, Patrice Gilbert Tapsoba, Pascal Niamba, Fatou Barro-Traoré, Adama Traoré

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Cutaneous Disorders Associated with Castleman's Disease by Hyo Jung Kim, Ju Hee Han, Chul Hwan Bang, Kyung Shin Park, Seok-Goo Cho, Dong Su Yoo, Kyung Moon Kim, Hyun Jung Park, Young Min Park, Jun Young Lee, Ji Hyun Lee

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Management of Lowe syndrome: a case report by Risky Vitria Prasetyo, Heru Setiawan, Ninik Asmaningsih Soemyarso, Mohammad Sjaifullah Noer, Irwanto Irwanto, Prastiya Indra Gunawan, Rozalina Loebis, Sri Andreani Utomo, Ni Wayan Tirthaningsih

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Budd-Chiari Syndrome - classification, diagnostics, imaging and treatment by Agnieszka Rybkowska, Magda Żuchnik, Gabriela Licak, Paulina Bętkowska, Jakub Radulski, Michał Paluch, Michał Tomkiewicz, Julia Tomkiewicz, Piotr Sałata, Paulina Szczuraszek

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Rusty pipe syndrome: a case report and review of the literature by Huanna Tang, Wenting Zhu, Jianpeng Chen, Dan Zhang

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