Results 181 to 190 of about 2,076 (266)

A high titer antibody response against P22 protein immunocomplex is not correlated with protection in naturally tuberculosis-infected goats. [PDF]

Vet Q
J O, I AR, A R, I M, A GB, B R, E FC, L J, M D, L D, M A R, J B.   +11 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Clinical genome sequencing in patients with suspected rare genetic disease in Peru. [PDF]

NPJ Genom Med
Bazalar-Montoya J, Cornejo-Olivas M, Duenas-Roque MM, Purizaca-Rosillo N, Rodriguez RS, Milla-Neyra K, De La Torre-Hernandez CA, Sarapura-Castro E, Galarreta Aima CI, Manassero-Morales G, Chávez-Pasco G, Celis-García L, La Serna-Infantes JE, Illumina Laboratory Services Bioinformatics, Software, Interpretation and Customer Support, Chekalin E, Thorpe E, Taft RJ.   +18 more
europepmc   +1 more source

Nanoparticle Formulation Generated from DDGS and Its Anthraquinone Synthesis Elicitation in <i>Rubia tinctorum</i> Hairy Roots. [PDF]

Polymers (Basel)
Galaburri G, Kalapuj YR, Perassolo M, Rodríguez Talou J, Márquez PG, Glisoni RJ, Infantes-Molina A, Rodríguez-Castellón E, Lázaro-Martínez JM.   +8 more
europepmc   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Pre-service teachers' perceptions of physical, socioemotional and cognitive traits in gifted students: unveiling bias? [PDF]

Front Sports Act Living
Ferrándiz C, Ferrando-Prieto M, Infantes-Paniagua Á, Fernández Vidal MC, Pons RM.   +4 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Structure and Mixed Proton-Electronic Conductivity in Pr and Nb-Substituted La_5.4MoO_12-δ Ceramics. [PDF]

Materials (Basel)
Sánchez-Caballero A, Porras-Vázquez JM, Dos Santos-Gómez L, Zamudio-García J, Infantes-Molina A, Canales-Vázquez J, Losilla ER, Marrero-López D.   +7 more
europepmc   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Antibodies against the Mycobacterium tuberculosis complex and Brucella spp. in captive and free-living European bison (Bison bonasus) in Poland. [PDF]

Vet Med Sci
Didkowska A, Colino EF, Olech W, Gloddy H, Anusz K, Infantes-Lorenzo JA, Gortázar C.   +6 more
europepmc   +1 more source