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1-123 out of 123 article(s)
Title Author Type Date Words
Pustulotic arthro-osteitis (Sonozaky syndrome). Sakellariou, Grigorios T.; Tsifountoudis, Ioannis Clinical report Jul 1, 2022 726
A Rare Cause of Recurrent Intestinal Obstruction: Abdominal Cocoon. Caglayan, Kasim; Sagiroglu, Tamer; Kucukmetin, Nurten Turkel; Gurdal, Sibel Ozkan; Sasani, Hadi Clinical report Jun 1, 2022 1980
The Impact of the CEDD-NET on the Evaluation of Rare Disorders: A Multicenter Scientific Research Platform in the Field of Pediatric Endocrinology. Ozen, Samim; Ata, Aysun; Darendeliler, Feyza Report Jun 1, 2022 4604
Berardinelli Seip Syndrome: A rare case report. Ashraf, Samreen; Masood, Shadab; Naz, Farrah; Rashid, Junaid Clinical report May 31, 2022 1988
Institutionalize gov't support for rare disease patients--advocacy groups. Feb 3, 2022 643
Endoscopic and Pathological Characteristics of Cronkhite-Canada Syndrome: A Retrospective Analysis of 76 Cases. Wang, Wei; Shao, Yan; Zhao, Da-hua; Xue, Feng; Ma, Xing-bin; Li, Qiong; Liu, Cheng-xia Report Jan 1, 2022 6672
A Zebra's Trust: How Rare Disease Communities' Participation in Data Trusts' Governance Builds Trust and Drives Research. Smith, Samantha C. Jan 1, 2022 20260
Anaesthetic Challenges in a Paediatric Patient with Escobar Syndrome-Difficult Airway and Postoperative Pneumothorax. Ghaffar, Waleed Bin; Haq, Irfan Ul; Shahid, Arham; Ismail, Samina Clinical report Dec 1, 2021 1868
Personal experience with self-care training in different settings. Lehman, Linda Report Dec 1, 2021 1950
Primary Testicular Diffuse Large B-cell Lymphoma: A Rare Case Report. Horsanali, Mustafa Ozan; Akan, Gurol; Tuncer, Saniye Sevim Clinical report Sep 1, 2021 1387
Considering Mycological Rarities. Breedlove, Byron Sep 1, 2021 1267
PRICING DRUGS FAIRLY. Persad, Govind Feb 1, 2021 26976
Pneumatosis Cystoides Intestinalis in the Setting of Clindamycin Use: An Association or a Coincidence? Syed, Masood Pasha; Thapa, Simant; Kate, Yugandhara; Subedi, Pawina; Chemmanur, Annie Clinical report Jan 1, 2021 741
A Rare Malignant Disease, Dermatofibrosarcoma Protuberans of the Breast: A Retrospective Analysis and Review of Literature. Wang, Yihua; Wang, Yu; Chen, Rui; Tang, Zhenrong; Liu, Shengchun Report Nov 10, 2020 6891
Leiomyomatosis peritonealis disseminata: An exceptional case. Qadir, Saima Yasmin; Khan, Ashar Ahmad Clinical report Oct 31, 2020 1275
Kimura's disease: a rare disease with cervical lymphadenopathy. Durak, Vahide Aslihan Clinical report Sep 30, 2020 986
Bardet Biedl syndrome: A rare genetic disorder. Khan, Shahzad Alam; Ansari, Muhammad Zubair Ahmad; Khalid, Muhammad Clinical report Sep 30, 2020 1433
A girl presents with orange-red scaly papules and plaques on the trunk, arms, knees. Tracy, Alexis; Eichenfield, Lawrence F. Clinical report Jun 1, 2020 802
RARE DISEASE COMMUNITY CALLS ON CONGRESS & FDA TO ENACT LIFE-SAVING PUBLIC POLICY SOLUTIONS. Dec 1, 2019 370
May-Thurner Syndrome: A Cause of Acute Left Iliac Vein Obstruction in Early Post-partum Period: A Case Report. Report Jul 31, 2019 1588
Medical miracle, 6-year-old Alabama boy defies doctors' predictions of an early death. Andrusko, Dave Jul 1, 2019 709
WILD SYNDROME: A RARE PRESENTATION OF PRIMARY LYMPHEDEMA, GENERALIZED WARTS AND IMMUNE DEFICIENCY DIAGNOSED IN BANGLADESH. Report Mar 31, 2019 1568
I Prefer Mine Rare Thank You. Rader, Rick Editorial Mar 1, 2019 1610
Prenatal detection of Peters plus-like syndrome/Peters-plus benzeri sendromun prenatal tanisi. Canda, Mehmet Tunc; Caglayan, Latife Doganay; Demir, Ayse Banu; Demir, Namik Clinical report Dec 1, 2018 1464
Leiomyomatosis peritonealis disseminata in a nonpregnant woman/Nulligravid olguda leiomyomatosis peritonealis disseminata. Aydin, Abdullah; Soylemez, Tuce; Karateke, Ates; Polat, Mesut; Girgin, Burcin Rabia Clinical report Dec 1, 2018 914
Rhinoscleroma. Umphress, Brandon; Raparia, Kirtee Report Dec 1, 2018 3249
Mesentery root: a rare location of Castleman's disease. Anitei, Gabriela Maria; Ioanid, Nicolae Serban; Patrascu, Ana Maria; Cretu, Gica Ciprian; Scripcariu Clinical report Dec 1, 2018 1785
Education and support available to enhance care of patients. Splete, Heidi Dec 1, 2018 338
The Impact of Subtype Distribution in Inflammatory Breast Cancer Outcome. Cakar, Burcu; Surmeli, Zeki; Oner, Pinar Gursoy; Yelim, Elif Sila; Karabulut, Bulent; Uslu, Ruchan Report Oct 1, 2018 4830
Bilateral Inflammatory Pseudotumour of the Breast: A Case Report and Review of the Literature. Dani, Mohsin; Pinder, Sarah; Fentiman, Ian Clinical report Oct 1, 2018 2386
The Articulating Neural Arch A Rare Developmental Anomaly. Mann, Robert W.; Burch, Ashley; Barnes, Ethne; Teegen, Wolf-Rudiger; Chrysostomou, Popi Th. Report Jun 22, 2018 3676
Progressive Pseudorheumatoid Condrodysplasia, an Unusual Cause of Joint Swelling and Stiffness. Kilic, Esra Report Jun 1, 2018 1048
5 STEPS TO BECOMING A RARE DISEASE PARENT ADVOCATE. Ostrea, Carrie Reprint May 1, 2018 538
RARE DISEASE CAREGIVING IN AMERICA: Collecting data from 1,406 adult caregivers of people of all ages, the Rare Disease Caregiving in America study describes the experiences and challenges of this targeted group of caregivers in a holistic way across more than 400 different rare diseases. Whiting, C. Grace; Boice, Nicole; Weber-Raley, Lisa Apr 1, 2018 2353
Pulmonary aspergillosis after treatment with infliximab in Still's disease and a literature review of Still's disease and pulmonary aspergillosis. Seyhoglu, Emrah; Erden, Abdulsamet; Kilic, Levent; Karadag, Omer; Akdagli, Sevtap Arikan; Akdogan, A Disease/Disorder overview Mar 1, 2018 2790
A Case Report: Unilateral Brusella Dakriyoadeniti. Mete, Alper; Mete, Aye Ozlem; Kimyon, Sabit; Yilmaz, Ibrahim Edhem; Bekir, Necdet A. Report Mar 1, 2018 1569
A Rare Confusing Nevus Variant: Meyerson Nevus. Yildiz, Pelin; Kucuk, Ozlem Su; Tosuner, Zeynep; Arici, Belfin Nur; Dizman, Didem; Deveci, Ugur; Dem Clinical report Jan 1, 2018 1195
THE NEXT DAY: STEPS TO TAKE AFTER RECEIVING A DIAGNOSIS: The day after getting a new diagnosis is the first day of your new reality and your family's new lifestyle. You are not alone. You have support and resources available to you. Ostrea, Carrie; Bruns, Anne Cover story Jan 1, 2018 1177
A PARENT'S PERSPECTIVE: WHAT TO DO IF YOUR CHILD IS DIAGNOSED WITH A RARE DISORDER. Agoratus, Lauren Jan 1, 2018 2297
Office of Rare Diseases Research. Tomaino, Robert Jan 1, 2018 2465
Hidradenitis Suppurativa in Kuala Lumpur, Malaysia: A 7-Year Retrospective Review. Kamil, Moonyza Akmal Ahmad; Affandi, Azura Mohd Report Jan 1, 2018 5552
Impetigo Herpetiformis: Review of Pathogenesis, Complication, and Treatment. Namazi, Nastaran; Dadkhahfar, Sahar Disease/Disorder overview Jan 1, 2018 2771
Rare Disease Caregiving Study. Oct 1, 2017 577
Beyond Urticaria: Schnitzler Syndrome. Ruiz-Villaverde, Ricardo; Bueno-Rodriguez, Ahinoa; Sanchez-Cano, Daniel Case study Sep 1, 2017 717
Rare Location for Dysembryoplastic Neuroepithelial Tumor in the Septum Pellucidum. Dossani, Rimal H.; Patra, Devi; Adeeb, Nimer; Wild, Elizabeth; Ghildyal, Abhilasha; Fowler, Marjorie Clinical report Sep 1, 2017 2695
Characteristics of Good's Syndrome in China: A Systematic Review. Dong, Jin-Pei; Gao, Wen; Teng, Gui-Gen; Tian, Yu; Wang, Hua-Hong Report Jul 5, 2017 4030
Cooccurrence of Chorea-Acanthocytosis and Mesial Temporal Sclerosis: A Possible Role of Caudate Nucleus. Salari, Mehri; Lehn, Alexander C.; Etemadifar, Masoud; Hejazi, Seyed Amir Report Jan 1, 2017 1148
Osteopathic Manipulative Treatment Limits Chronic Constipation in a Child with Pitt-Hopkins Syndrome. Aquino, Alessandro; Perini, Mattia; Cosmai, Silvia; Zanon, Silvia; Pisa, Viviana; Castagna, Carmine; Clinical report Jan 1, 2017 3871
Medical and Interventional Therapy for Spontaneous Vertebral Artery Dissection in the Craniocervical Segment. Zhang, Guiyun; Chen, Zuoquan Report Jan 1, 2017 3289
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer. Sernadela, Pedro; Gonzalez-Castro, Lorena; Carta, Claudio; van der Horst, Eelke; Lopes, Pedro; Kaliy Report Jan 1, 2017 7647
Laryngeal Rosai-Dorfman Disease (Sinus Histiocytosis with Massive Lymphadenopathy): A Retrospective Study of 5 Cases. Niu, Yanyan; Li, Yongjin; Wang, Jian; Jin, Xiaofeng; Yang, Dahai; Huo, Hong; Li, Wuyi Case study Jan 1, 2017 3059
A harmful traditional practice in newborns with adrenocorticotropic hormone resistance syndrome: branding. Bastug, Osman; Korkmaz, Levent; Korkut, Sabriye; Halis, Hulya; Gunes, Tamer; Kurtoglu, Selim Case study Dec 1, 2016 2331
Determinants and Equity Evaluation for Health Expenditure Among Patients with Rare Diseases in China. Xin, Xiao-Xiong; Zhao, Liang; Guan, Xiao-Dong; Shi, Lu-Wen Report Dec 1, 2016 4562
Seeing beyond the diagnosis. Waller, Courtney Organization overview Nov 1, 2016 1695
Rare diseases and resource allocation policy: the role of Canadian legal and ethical norms. Caulfield, Timothy; Toews, Maeghan Aug 1, 2016 9727
Scarabiasis in children: a prospective study of 6 cases. Mohammed, M.T.P.; Sudhakaran, K.; Venugopalan, A.K. Report May 9, 2016 1243
Myxoinflammatory fibroblastic sarcoma of the nose: first reported case at an unusual location (nasal dorsum), with a review of the literature. Numminen, Jura; Bizaki, Argyro; Kujansivu, Jarno; Huovinen, Sanna; Rautiainen, Markus Clinical report Mar 1, 2016 188
Papillary carcinoma in thyroglossal duct cyst: two case reports and review of the literature. Patel, Neil S.; Sheykholeslami, Kianoush Clinical report Mar 1, 2016 121
Vascular malformation with phleboliths involving the parotid gland: a case report with a review of the literature. Ho, Caleb; Judson, Benjamin L.; Prasad, Manju L. Author abstract Oct 1, 2015 116
Extramedullary plasmacytoma associated with an ectopic tooth in the nasal cavity. Zhang, Yi; Xu, Yong; Xu, Yu; Tao, Zezhang Brief article Oct 1, 2015 111
Endourological treatment of bilateral ureteral stones in bilateral ureteral duplication with right ureterocele. Sen, Volkan; Aydogdu, Ozgu; Yonguc, Tarik; Bozkurt, Ibrahim Halil; Polat, Salih; Basmaci, Ismail Clinical report Jul 1, 2015 1303
Bladder leiomyosarcoma in a patient with chronic ketamine abuse: a case report. Zhong, Dewen; Yu, Feng; Chen, Jiande; Lin, Chaolu; Luo, Huaijing Clinical report Jul 1, 2015 1356
Incidental retroperitoneal paraganglioma in patient candidate to radical prostatectomy: concurrent surgical treatments by robotic approach. Ferrari, Matteo; Sangalli, Mattia; Zanoni, Matteo; Ghezzi, Massimo; Fabbri, Fabio; Sozzi, Francesco; Clinical report Jul 1, 2015 1459
Spontaneous rupture of adult Wilms' tumor: a case report and review of the literature. Huang, Jian-lin; Liao, Yong; An, Yu; Qiu, Ming-xing Clinical report Jul 1, 2015 2485
HAMULAR BURSITIS: DIFFICULT TO DIAGNOSE IN OROFACIAL PAIN. Arya, Sugandha; Singhal, Priya; Vengal, Manoj; Patil, Neelkant; Bhateja, Sumit Report Mar 31, 2015 2633
Rare disease Rx advances. Mar 16, 2015 627
Solitary synovial chondromatosis as a cause of Hoffa's fat pad impingement/Solitarna sinovijalna hondromatoza kao uzrok ukljestenja hofinog masnog jastuceta. Maljanovic, Mirsad; Ristic, Vladimir; Rasovic, Predrag; Matijevic, Radmila; Milankov, Vukadin Clinical report Jan 1, 2015 1855
Penile and intramuscular metastases from esophageal squamous cell carcinoma: A rare case report and review of the literature. Ci, Zou; Dexin, Yu; Qi, Wang; Tao, Zhang; Dongdong, Xie; Yi, Wang; Demao, Ding; Lei, Chen; Jie, Min; Clinical report Nov 1, 2014 1670
Baby steps backward. Mangu-Ward, Katherine Brief article Nov 1, 2014 184
Resolution threshold of current molecular epidemiology of diphtheria. Mokrousov, Igor Letter to the editor Nov 1, 2014 1261
Dentigerous cyst with ectopic tooth in maxillary sinus of a child--a rare occurrence. Sahni, Dimple Clinical report Oct 1, 2014 1024
Schwannoma of the Buccal Mucosa: report of a case in a rare location. Suchitra, G.; Sulabha, A.N.; Choudhari, Sameer Clinical report Oct 1, 2014 1240
We want you! A gathering of newborn screening advocates. Raccosta, Maryann Conference notes Sep 1, 2014 777
Patricia Richardson: a rare acting talent helps battle rare disorders. Finkel, Jon Interview Sep 1, 2014 1109
Melanosis oris with poliosis. Benni, Deepa; Sirur, Dhirendra; Begum, Ghousia; Naik, Satyajith Clinical report Jul 1, 2014 1841
Squamous cell carcinoma of the suprapubic tract: A rare presentation in patients with chronic indwelling urinary catheters. Massaro, Peter Alexander; Moore, Jonathan; Rahmeh, Tarek; Morse, Michael J. Clinical report Jul 1, 2014 2422
Repurposing & collaborative drug development for rare diseases. Muthyala, Ramaiah Jan 1, 2014 410
Implications of genomics advances for drug discovery, clinical therapies, & rare disease research. Raymond, John R. Jan 1, 2014 615
The role of patient advocacy/parent support groups. Hall, J.G. Report Dec 1, 2013 3031
Kimura disease--a rare case. Pastapur, Rajeev; Ansari, Ashfaque; Bohra, R.B.; Vare, Reena; Mathew, Suma Moni Clinical report Nov 11, 2013 1287
Perforation of jejunal ulcer. Mankar, Kishore K. Clinical report Nov 4, 2013 471
A rare Wilms' tumor with teratoid differentiation in a 3 month old male child--a case report. Ramani, M.; Geetha, K.; Reddy, K. Ramesh; Tahoor, A. Ramsha; Rani, C. Sandhya Clinical report Jun 10, 2013 1463
A common coeliaco-mesenteric trunk and variations in their branching pattern--a case report. Kalaimani, Anbusudar; Bharathi, G.; Chirsty, K. Carolin; Ayyandurai, S.; Abishek, M. Clinical report Jun 10, 2013 1632
Persistent sciatic artery aneurysm: a rare embryological vascular variant. Nagra, Aslam; Harjai, Rachit; Meena, Naveen; Jain, Rahul; Mishra, Hemant Clinical report Jun 10, 2013 1458
Role of imaging in antenatal diagnosis of bladder exstrophy--epispadias complex. Jain, Rahul; Solanki, Bhawna; Shekhawat, Savita; Saini, Megha; Mishra, Hemant Clinical report Jun 10, 2013 1608
Oral manifestation of eosinophilic granuloma: report of two cases. Divya, K.S. Clinical report Jun 10, 2013 1638
An unusual case report of heterotrophic pregnancy. Hogade, Annapurna; Devarmani, Meenakshi; Krupa, Sneha Clinical report Jun 10, 2013 1309
180 degrees torsion of the term gravid uterus--a case report on this rare obstetric emergency. Tripathi, Urmila; Tripathi, Yogendra Clinical report Jun 10, 2013 1516
Bilateral symmetrical tenosynovitis unique presentation of tuberculosis. Varunjikar. M.D.; Varunjikar, A.M.; Joshi, S.C.; Joshi, C.R. Clinical report Jun 10, 2013 1098
Gossypiboma: a rare presentation. Rahatgaonkar, Veena; Bhosale, U.T.; Gawade, Ankita Clinical report Jun 10, 2013 861
Megacystis--microcolon--intestinal hypoperistalsis syndrome--case report and review of literature. Mehrotra, Gunjan; Sharma, Rajesh; Kela, Manoj; Vishwani, Avinash; Singh, Sangram Clinical report Jun 10, 2013 1255
A very rare variation of the superior mesenteric artery--a case report. Kalaimani, Anbusudar; Bharathi, G.; Hemapriya, K.; Karthiga, M.; Kumar, R. Nandha Clinical report Jun 10, 2013 1719
Double left renal vein--a rare anomaly. Dutta, Rupshikha; Phukon, Manash Jyoti Clinical report Jun 10, 2013 1457
Jeune syndrome. Ramya, H.S.; Shivswamy, Sushanth; Manjunath M.N. Clinical report Jun 1, 2013 1074
Bilateral primary non-Hodgkin's lymphoma of breast. A rare entity. Das, Narayan Clinical report Apr 29, 2013 677
Pyles metaphyseal dysplasia with megalocornea a very rare association--a case report. Mandal, Prasanta Kumar; Majhi, Fagu Ram; Mandal, Anup Clinical report Apr 29, 2013 602
Inflammatory myofibroblastic tumour of the bladder: Case report and review of the literature. Wei, Li; Jianbo, Liang; Qiang, Wei; Hai, Yu; Zhixiang, Lan Report Apr 1, 2013 2196
NIH rare disease event to raise awareness, encourage research collaborations. Feb 25, 2013 125
Rare disease sets mom's research agenda. Saey, Tina Hesman Feb 23, 2013 502
Penile ossification: A traumatic event or evolutionary throwback? Case report and review of the literature. Yilmaz, Ibrahim Edhem; Barazani, Yagil; Tareen, Basir Case study Feb 1, 2013 1768
A case of congenital syndromic hydrocephalus: a subtype of 'Game-Friedman-Paradice syndrome'. Jana, Tapan Kumar; Roy, Hironmoy; Giri, Susmita Jan 1, 2013 1774
Clinicopathological study of 25 cases of diverticular disease of the appendix: experience from Farwaniya Hospital. Brahim, Nabeel Al-; Kandari, Ibrahim Al-; Munahai, Musaad; Sharma, Prem Report Jan 1, 2013 3128
Shanyna Isom Has Rare Disease Causing Fingernails To Grow Where Hair Should [PHOTOS]. Aug 10, 2012 542
Improving information retrieval using medical subject headings concepts: a test case on rare and chronic diseases. Darmoni, Stefan J.; Soualmia, Lina F.; Letord, Catherine; Jaulent, Marie-Christine; Griffon, Nicolas Report Jul 1, 2012 5358
MEDICINES : ORPHACOL: EP ASKS COMMISSION FOR EXPLANATIONS. Jun 25, 2012 463
Motor activity in water and Fine-Lubinsky syndrome. Biancalana, Vincenzo; Scarpa, Stefano; Nart, Alessandra Report Jun 1, 2012 4676
NIH spotlights research for rare eye diseases during Rare Disease Day. Brief article Feb 28, 2012 110
Rare Disease Day at NIH raises awareness and highlights cutting-edge research. Brief article Feb 16, 2012 102
Families seek a greater role in search for rare disease treatments: the National Organization for Rare Disorders (NORD) believes that patients and families of patients with rare disorders and chronic conditions belong to a highly-motivated population who can help drive the search for safe, effective treatments. Abbott, Natalie Dec 1, 2011 2285
MarbleRoad on the rare children's storybook project and other creative initiatives. Liebers, Howard Nov 1, 2011 1214
Rare Disease R&D Grows. Report Mar 28, 2011 572
The mysterious foreign accent: while treating Ms. D for a suspected psychotic disorder, you learn she has developed a foreign accent. What could be the cause of this unusual symptom? Paul, Panchajanya; Beckman, Barry; Bellian, David; Osinowo, Thomas Report Mar 1, 2011 2169
HEALTH : EUROPE MARKS RARE DISEASE DAY. Brief article Feb 28, 2011 228
Isis and Glaxo in joint venture for rare, C"disease treatments. Isis Pharmaceuticals Inc. Apr 5, 2010 279
Feds launch disease program. Anderson, Jane Brief article Jun 15, 2009 122
Feds launch disease program. Anderson, Jane Brief article Jun 15, 2009 122
Rare diseases: where to go for info. Feero, Greg Jan 1, 2009 832
Not so rare, rare diseases. Waldman, H. Barry; Perlman, Steven P.; Munter, Beverly L.; Chaudhry, Ramiz A. Dec 1, 2008 1454
22q11 deletion syndrome: a mystery no more. Umlauf, Mary Clinical report Aug 1, 2008 2430
A parent's view of Ohdo syndrome. FitzZaland, Richard; FitzZaland, Mary Clinical report Aug 1, 2008 1262
Rare types of prostate cancer tend to be more aggressive. McNamara, Damian Jul 15, 2008 482
Screening and caring for children with rare disorders. Lin, Bruce K.; Fleischman, Alan R. May 1, 2008 685
A constant fight against new and rare diseases. Bennett, A. Rick; Heckert, Robert A. Jun 1, 2006 772

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