Search Results - "rare diseases"

Development of the neurotrophic keratopathy questionnaire: qualitative research by Lindsey T. Murray, Julie McCormack, Ioana Grobeiu, Ingela Wiklund, Miriam Kimel, Floortje Van Nooten

Connect to this object online.

Estimating Prevalence, Demographics, and Costs of ME/CFS Using Large Scale Medical Claims Data and Machine Learning by Ashley R. Valdez, Elizabeth E. Hancock, Seyi Adebayo, David J. Kiernicki, Daniel Proskauer, John R. Attewell, Lucinda Bateman, Alfred DeMaria, Charles W. Lapp, Peter C. Rowe, Charmian Proskauer

Connect to this object online.

Parental-Caregivers Perceptions Questionnaire (P-CPQ): translation and evaluation of psychometric properties of the French version of the questionnaire by Noeline Razanamihaja, Marie-Lau, Laurence Jordan, Lea Tapiro, Ariane Berdal, Muriel de la Dure-Molla, Sylvie Azogui-Levy

Connect to this object online.

Pathophysiological Consequences of KATP Channel Overactivity and Pharmacological Response to Glibenclamide in Skeletal Muscle of a Murine Model of Cantù Syndrome by Rosa Scala, Fatima Maqoud, Nicola Zizzo, Antonietta Mele, Giulia Maria Camerino, Francesco Alfredo Zito, Girolamo Ranieri, Conor McClenaghan, Theresa M. Harter, Colin G. Nichols, Domenico Tricarico

Connect to this object online.

Genetic diagnosis of pseudomyxoma peritonei originating from mucinous borderline tumor inside an ovarian teratoma by Ayumi Taguchi, Hirofumi Rokutan, Katsutoshi Oda, Michihiro Tanikawa, Saki Tanimoto, Kenbun Sone, Mayuyo Mori, Tetsushi Tsuruga, Shinji Kohsaka, Kenji Tatsuno, Aya Shinozaki-Ushiku, Kiyoshi Miyagawa, Hiroyuki Mano, Hiroyuki Aburatani, Tetsuo Ushiku, Yutaka Osuga

Connect to this object online.

Adolescent-onset anti-MDA5 antibody-positive juvenile dermatomyositis with rapidly progressive interstitial lung disease and spontaneous pneumomediastinum: a case report and litera... by Tsz-Wing Yeung, Kai-Ning Cheong, Yu-Lung Lau, Kei-Chiu Niko Tse

Connect to this object online.

Needs assessment of a pythiosis continuing professional development program. by Surachai Leksuwankun, Rongpong Plongla, Nathanich Eamrurksiri, Pattama Torvorapanit, Kasidis Phongkhun, Nattapong Langsiri, Tanaporn Meejun, Karan Srisurapanont, Jaedvara Thanakitcharu, Bhoowit Lerttiendamrong, Achitpol Thongkam, Kasama Manothummetha, Nipat Chuleerarux, Chatphatai Moonla, Navaporn Worasilchai, Ariya Chindamporn, Nitipong Permpalung, Saman Nematollahi

Connect to this object online.

DOCK8 mutation diagnosed using whole-exome sequencing of the dried blood spot-derived DNA: a case report of an Iraqi girl diagnosed in Japan by Lika'a Fasih Y. Al-Kzayer, Hanadi Munaf H. Al-Aradi, Tomonari Shigemura, Kenji Sano, Miyuki Tanaka, Motoharu Hamada, Kenan Hussien Ali, Osamah Mohammed Aldaghir, Yozo Nakazawa, Yusuke Okuno

Connect to this object online.

Neurosurgical Treatment and Outcome of Pediatric Skull Base Lesions: A Case Series and Review of the Literature by Ladina Greuter, Tim Hallenberger, Raphael Guzman, Jehuda Soleman

Connect to this object online.

Symptomatic giant solitary bile cyst with intracystic bleeding in a 13-year-old girl: a case report and literature review by José Otávio Guedes Junqueira, João Henrique Sendrete de Pinho, Thaís Bandeira de Oliveira Junqueira, Bruna Bandeira de Oliveira Junqueira, Fernando Mendonça Vidigal, Maria Cristina Vasconcelos Furtado, Gláucio Silva de Souza

Connect to this object online.

Rare genital malformations in women's health research: sociodemographic, regional, and disease-related characteristics of patients with Mayer-Rokitansky-Küster-Hauser syndrome by Sara Yvonne Brucker, Leonie-Sophia Pösch, Joachim Graf, Alexander N. Sokolov, Norbert Schaeffeler, Andrea Kronenthaler, Hanna Hiltner, Anke Wagner, Esther Ueding, Monika A. Rieger, Dorit Schöller, Diana Stefanescu, Kristin Katharina Rall, Diethelm Wallwiener, Elisabeth Simoes

Connect to this object online.

Past, current, and future trends in the prevalence of primary sclerosing cholangitis and inflammatory bowel disease across England (2015-2027): a nationwide, population-based study... by Hannah Crothers, James Ferguson, Mohammed Nabil Quraishi, Rachel Cooney, Tariq H. Iqbal, Palak J. Trivedi

Connect to this object online.

Genotype-Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease by Jingru Shi, Meng Ren, Jinmeng Jia, Muxue Tang, Yongli Guo, Yongli Guo, Yongli Guo, Xin Ni, Xin Ni, Xin Ni, Tieliu Shi, Tieliu Shi

Connect to this object online.

Diagnostic testing in people with primary ciliary dyskinesia: An international participatory study. by Leonie Daria Schreck, Eva Sophie Lunde Pedersen, Isabelle Cizeau, Loretta Müller, Catherine Kruljac, Jane S Lucas, Myrofora Goutaki, COVID-PCD patient advisory group, Claudia E Kuehni

Connect to this object online.

Application value of Early-Follicular Phase Long-Acting Gonadotropin-Releasing Hormone Agonist Long Protocol in patients with resistant ovary syndrome by Fan Zhang, Huixia Zhang, Hui Du, Xin Li, Haixia Jin, Gang Li

Connect to this object online.

Surgical Treatment for Benign Lymphangioendothelioma After Two Incomplete Excisions: A Case Report and Literature Review by Lu W, Cao Y, Zeng F, Chen C, Yang Z, Qi Z, Yang X

Connect to this object online.

Pharmacogenomics in the Management of Pulmonary Arterial Hypertension: Current Perspectives by Coons JC, Empey PE

Connect to this object online.

Molecular Mechanisms Involved in the Chemical Instability of ONC201 and Methods to Counter Its Degradation in Solution by Maxime Annereau, Marina Vignes, Lucas Denis, André Rieutord, François-Xavier Legrand, François Rioblanc, Muriel Paul, Jacques Grill, Philippe-Henri Secretan, Bernard Do

Connect to this object online.

Enfermedad de Caffey después del primer año de vida. Caso clínico Caffey disease after the first year of life. Clinical case by Reynier Ramírez Suarez, Yuslaidy de los Ángeles López Consuegra

Connect to this object online.

A dangerous food binge: a case report of hypokalemic periodic paralysis and review of current literature by Maria Carolina Colucci, Marica Fabiana Triolo, Simona Petrucci, Flaminia Pugnaloni, Massimiliano Corsino, Melania Evangelisti, Maria Cecilia D'Asdia, Giovanni Di Nardo, Matteo Garibaldi, Gianluca Terrin, Pasquale Parisi

Connect to this object online.