Results 201 to 210 of about 19,491,478 (363)

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Rabbit Hepatitis E Virus, Ukraine, 2024. [PDF]

Emerg Infect Dis
Santos-Silva S, Dudnyk Y, Shkromada O, Nascimento MSJ, Gonçalves HMR, Van der Poel WHM, Rivero-Juarez A, Mesquita JR.   +7 more
europepmc   +1 more source

Computer-assisted assignment of functional domains in the nonstructural polyprotein of hepatitis E virus: delineation of an additional group of positive-strand RNA plant and animal viruses.

, 1992
Eugene V. Koonin, Alexander E. Gorbalenya, Michael A. Purdy, Mikhail Rozanov, Gregory R. Reyes, Daniel W. Bradley   +5 more
openalex   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

Rapid Synthesis and Diversification of Thymine‐Containing Bridged Nucleic Acids Through Cascade Cyclization Reactions

Angewandte Chemie, EarlyView.
Several processes are reported that enable the rapid diversification of bridged nucleoside analogues (NAs) starting from a common and readily prepared fluorohydrin. Also, several clinically relevant bridged nucleosides are now prepared in as few as three synthetic steps, creating new opportunities for examining structure‐activity relationships within ...
Cohan Huxley, Ethan Fung, Bara Singh, Guillermo Caballero‐García, Garrett Muir, Steven M. Silverman, Louis‐Charles Campeau, Robert Britton   +7 more
wiley   +2 more sources

Cellular and Humoral Immune Profiles After Hepatitis E Vaccination and Infection. [PDF]

Viruses
Øverbø J, Dembinski JL, Nilsen TR, Sriranganathan V, Dimova-Svetoslavova VP, Aziz A, Zaman K, Julin CH, Qadri F, Stene-Johansen K, Bhuiyan TR, Haque W, Dudman S.   +12 more
europepmc   +1 more source

Hepatitis B virus unable to secrete E antigen

, 1991
Ferruccio Bonino, Maurizia Rossana Brunetto, Mario Rizzetto, Hans Will   +3 more
openalex   +1 more source

Characterization of CD8+ cytotoxic T-lymphocyte responses after genetic immunization with retrovirus vectors expressing different forms of the hepatitis B virus core and e antigens [PDF]

, 1997
Kay Townsend, Matti Sällberg, Joanne O'Dea, Theresa A. Banks, David A. Driver, Sybille L. Sauter, S M Chang, Douglas J. Jolly, Steven J. Mento, David R. Milich, William T. Lee   +10 more
openalex   +1 more source

Chronic Infection With Camelid Hepatitis E Virus in a Liver Transplant Recipient Who Regularly Consumes Camel Meat and Milk.

Gastroenterology, 2016
G. Lee, B. Tan, E. C. Teo, S. Lim, Y. Dan, A. Wee, P. Aw, Yuan Zhu, M. Hibberd, Chee‐Kiat Tan, M. Purdy, C. Teo   +11 more
semanticscholar   +1 more source

Meeting the Needs of Aboriginal and Torres Strait Islander People With Hearing Loss in the Context of the National Disability Insurance Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT Hearing loss is a poignant issue in many Aboriginal and Torres Strait Islander communities and, without sufficient support, it can also contribute to disabling life experiences. The National Disability Insurance Scheme (NDIS) is intended to provide support to eligible people experiencing disability, however, to effectively serve this ...
Hannah Lack, Jody Barney, Marie Huska, Damien Howard, Alexandra Devine   +4 more
wiley   +1 more source