Search Results - "rare diseases"

Experience in prenatal genetic testing and reproductive decision-making for monogenic disorders from a single tertiary care genetics clinic in a low-middle income country by Amna Hanif, Fizza Akbar, Salman Kirmani, Amyna Jaffarali, Ghulam Zainab, Ayesha Malik, Zeeshan Ansar, Bushra Afroze

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Subcutaneous mycosis at the Department of Dermatology and Venereology dr. Cipto Mangunkusumo National Hospital, Jakarta, 1989-2013 by Sammy Yahya, Sandra Widaty, Eliza Miranda, Kusmarinah Bramono, Artini Wijayanti Islami

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Quality of life and neurological symptoms in patients with neurofibromatosis type 2: a national database study in Japan by Takashi Yamauchi, Machi Suka

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Epstein-Barr virus-positive inflammatory follicular dendritic cell sarcoma with significant granuloma: case report and literature review by Chenchen Nie, Xun Xie, Hangyan Li, Yangcan Li, Zhihong Chen, Yanchun Li, Zhenfeng Li

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A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report by Maria Santa Rocca, Gioia Piatti, Angela Michelucci, Raffaella Guazzo, Veronica Bertini, Cinzia Vinanzi, Maria Adelaide Caligo, Angelo Valetto, Carlo Foresta

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Glycine-Alanine Dipeptide Repeat Protein from C9-ALS Interacts with Sulfide Quinone Oxidoreductase (SQOR) to Induce the Activity of the NLRP3 Inflammasome in HMC3 Microglia: Irisfl... by Ru-Huei Fu, Hui-Jye Chen, Syuan-Yu Hong

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Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations by Ana Perdomo-Ramirez, Marian de Armas-Ortiz, Elena Ramos-Trujillo, Lorena Suarez-Artiles, Felix Claverie-Martin

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EXTENSIVE INTRACRANIAL CALCIFICATION WITH NEUROLOGICAL AND OPHTHALMOLOGICAL COMPLICATIONS IN A PATIENT WITH IDIOPATHIC HYPOPARATHYROIDISM: A CASE REPORT by Maya P. Danovska, Diana L. Marinova, Igor Mladenovski, Emilia M. Ovcharov, Vesela Ivancheva, Nachko Totsev, Lyubomir Tzankov

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A complicated case of an immunocompetent patient with disseminated nocardiosis by Chad J. Cooper, Sarmad Said, Maryna Popp, Haider Alkhateeb, Carlos Rodriguez, Mateo Porres Aguilar, Ogechika Alozie

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A qualitative study on traditional healers' perceptions and management of epidermolysis bullosa by Antoinette V. Chateau, Nceba Gqaleni, Colleen Aldous, Ncoza Dlova, David Blackbeard

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Primary squamous cell carcinoma of the salivary gland: immunohistochemical analysis and comparison with metastatic squamous cell carcinoma by Uiree Jo, Joon Seon Song, Seung-Ho Choi, Soon Yuhl Nam, Sang Yoon Kim, Kyung-Ja Cho

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Celiac Disease Prevalence Among Children with Dermatologic Pathology: Cross Sectional Study with Clinical Case Series by Leonid A. Opryatin, Tatiana E. Borovik, Elena A. Roslavtseva, Nikolay N. Murashkin

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Heterotypic mouse models of canine osteosarcoma recapitulate tumor heterogeneity and biological behavior by Milcah C. Scott, Hirotaka Tomiyasu, John R. Garbe, Ingrid Cornax, Clarissa Amaya, M. Gerard O'Sullivan, Subbaya Subramanian, Brad A. Bryan, Jaime F. Modiano

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Broadening the phenotype of the TWNK gene associated Perrault syndrome by Bálint Fekete, Klára Pentelényi, Gabor Rudas, Anikó Gál, Zoltán Grosz, Anett Illés, Jimoh Idris, Gabor Csukly, Andor Domonkos, Maria Judit Molnar

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Pseudomembranous colitis in children: Experience of a university hospital in Korea by Jae Hyun Park, Kyung Ji Kang, Yu Na Kang, Ae Suk Kim, Jin-Bok Hwang

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Primary Omental Lipoma in a Child: A Case Report and Literature Review by Qiang Yuan, Xufei Duan, Xueqiang Yan

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Effect of disease severity on upper extremity muscle strength, exercise capacity, and activities of daily living in individuals with pulmonary arterial hypertension by Buse Özcan Kahraman, İsmail Özsoy, Serap Acar, Ebru Özpelit, Bahri Akdeniz, Can Sevinç, Sema Savcı

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Case Report: Japanese Siblings of Cystic Fibrosis With a Novel Large Heterozygous Deletion in the CFTR Gene by Mayumi Kawase, Mayumi Kawase, Masato Ogawa, Masato Ogawa, Takayuki Hoshina, Masumi Kojiro, Miyuki Nakakuki, Satoru Naruse, Hiroshi Ishiguro, Koichi Kusuhara

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Lymphangioleiomyomatosis: differential diagnosis and optimal management by Xu KF, Lo BH

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Exploring the Quality-of-Life Impact, Disease Burden, and Management Challenges of GPP: The Provider and Patient Perspective [Podcast] by Hawkes JE, Reisner DV, Bhutani T

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