Results 131 to 140 of about 11,580,920 (364)

Rare Features in a Case of Gaucher's Disease [PDF]

, 1954
E. Adler, S. Maybaum
openalex   +1 more source

Rare thyroid diseases [PDF]

Thyroid Research, 2013
In general, rare thyroid diseases can be divided into neoplastic and non-neoplastic. Neoplastic rare thyroid diseases include the following: 1. primary thyroid lymphoma (1-5% all malignant neoplasms of the thyroid; 2:1 000 000 per year); 2. metastases to the thyroid gland (2-3% malignant thyroid neoplasms; 0.5-2.8% in autopsy) from various ...
openaire   +2 more sources

Share and protect our health data: an evidence based approach to rare disease patients’ perspectives on data sharing and data protection - quantitative survey and recommendations

Orphanet Journal of Rare Diseases, 2019
BackgroundThe needs and benefits of sharing health data to advance scientific research and improve clinical benefits have been well documented in recent years, specifically in the field of rare diseases where knowledge and expertise are limited and ...
Sandra Courbier, R. Dimond, Virginie Bros-Facer   +2 more
semanticscholar   +1 more source

Localization accuracy of 6‐second CBCT for lung IGRT with various breathing patterns

Journal of Applied Clinical Medical Physics, EarlyView.
Abstract Purpose The 6‐second cone beam computed tomography (CBCT) acquisition of the Ethos HyperSight (Varian Medical Systems, Inc. Palo Alto, CA, USA) on‐board imaging system offers benefits, but could be too fast to accurately capture an average target position in a free‐breathing lung cancer patient. This study aimed to ascertain whether a 6‐second
Jihye Koo, Gage Redler, Vladimir Semenenko, Stephen A. Rosenberg, Emily Keit, Jacqueline M. Andreozzi   +5 more
wiley   +1 more source

Characterization of the bispecific VHH antibody tarperprumig (ALXN1820) specific for properdin and designed for low-volume administration

mAbs
The bispecific antibody tarperprumig (ALXN1820) was developed as a treatment option for diseases involving dysregulated complement alternative pathway (AP) activity that could be administered in small volumes, either subcutaneously or intravenously ...
Paul Tamburini, Dennis Vestergaard Pedersen, Denise Devore, Josh Cone, Rekha Patel, Todd Hunter, Fang Sun, Gregers Rom Andersen, Jeffrey Hunter   +8 more
doaj   +1 more source

A Rare Form of Skin-Disease [PDF]

, 1879
W. Cottle
openalex   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Illustrations of Exceptional Symptoms and Examples of Rare Forms of Disease [PDF]

, 1886
Joanna Hutchinson
openalex   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Diffuse Tracheo-bronchial Amyloidosis: A Rare Variant of a Protean Disease [PDF]

, 1963
C. Barrington Prowse, R. I. K. Elliott
openalex   +1 more source