Results 51 to 60 of about 8,772,762 (291)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

COMPARATIVE PERFORMANCE OF SAHIWAL COWS AT THE LIVESTOCK EXPERIMENT STATION BAHADURNAGAR, OKARA VS PATADAR’S HERD [PDF]

Pakistan Veterinary Journal, 2006
The data on 3434 records for lactation milk yield and lactation length and 2314 records for dry period of Sahiwal cows maintained at the Livestock Experiment Station (LES), Bahadurnagar, Okara, Pakistan and its Patadars during 1986-2000 were analyzed by ...
S. U. REHMAN, M. AHMAD AND M. SHAFIQ1
doaj  

Genetic Relationship of Body Energy and Blood Metabolites with Reproduction in Holstein Cows [PDF]

, 2008
Body condition score (BCS), energy content (EC), cumulative effective energy balance (CEEB), and blood serum concentrations of glucose, beta-hydroxybutyrate (BHBA), and nonesterified fatty acids ( NEFA) were measured throughout first lactation in 497 ...
Arsenos, G., Zygoyiannis, D., Oikonomou, G., Valergakis, G. E., Banos, G., Tsiaras, A.   +5 more
core   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Milk Yield and Composition, Technological Properties and Homeostasis Indices at Different Lactation Stages and Parities of Two Polish Dairy Goat Breeds

Acta Universitatis Cibiniensis. Series E: Food Technology, 2023
The purpose of the research was to determine the effect of breed, lactation number, and lactation stage on milk efficiency and goat milk ingredients, these being indicators of milk technological parameters and homeostasis disturbances.
Urbańska Daria Maria, Puchała Ryszard, Jarczak Justyna, Barłowska Katarzyna, Czopowicz Michał, Mickiewicz Marcin, Kaba Jarosław, Bagnicka Emilia   +7 more
doaj   +1 more source

Modeling daily energy balance of dairy cows in the first three lactations [PDF]

, 2005
Daily energy balance was calculated for 111 Holstein cows in their first 3 lactations, based on combinations of smoothed preadjusted phenotypic records for milk yield, feed intake, live weight, and body condition score.
Banos, G, Coffey, MP, Brotherstone, S
core   +1 more source

Stage‐Specific Patterns of Imaging and Non‐Motor Biomarkers in Spinocerebellar Ataxia Type 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Advancements in disease‐modifying therapies for spinocerebellar ataxia Type 3 (SCA3) underscore the need for robust biomarkers to monitor disease progression and evaluate treatment efficacy. Although motor phenotypes have been well characterized, less is known about non‐motor and imaging‐based features across different disease stages.
Chun Li, Zhi‐Xian Ye, Xuan‐Yu Chen, Liang‐Liang Qiu, Zhi‐li Chen, Yu‐Sen Qiu, Wei Lin, Ru‐Ying Yuan, Xin‐Tong Yu, Chun‐Yu Huang, Xin‐Yuan Chen, Min‐Ting Lin, Jian‐Ping Hu, Wan‐Jin Chen, Ning Wang, Shao‐Bo Yao, Shi‐Rui Gan, Ying Fu   +17 more
wiley   +1 more source

Variation of Milk Yield and Milk Composition of Pivska Pramenka Sheep Breed Through Lactation [PDF]

, 2015
The aim of this paper is to present the research results on the milk traits and variation of milk composition during lactation of Pivska pramenka breed, as one of the most important autochthonous sheep breeds in Montenegro. Investigation was conducted on
Markovic, M, Radonjic, D, Markovic, B, Mirecki, S   +3 more
core  

Clinical Characteristics and Concordance of Anti‐MDA5 Antibodies: A Multicenter Australian Study

Arthritis Care &Research, EarlyView.
Objective In Australia, anti‐MDA5 antibodies are exclusively tested by a line immunoblot assay (LIA). The clinical concordance of an LIA‐positive anti‐MDA5 result is unclear. We aimed to describe the clinical features and determine the clinical concordance of patients with anti‐MDA5 antibodies. Methods Electronic records of a multisite cohort (patients
Syed B. Ali, Thomas Khoo, Keeran Shivakumar, Adam Caroll, Lauren Hender, Dimitra Beroukas, Kim Griggs, Celina Jin, Theo De Malmanche, Jessica Day, Gabor Major, Vidya Limaye   +11 more
wiley   +1 more source

Effects of assisted calving and retained fetal membranes on milk production in the smallholder farming system

Veterinary and Animal Science
The impact of assisted calving, retained fetal membranes (RFM) and calf sex on milk production in small-scale dairy systems remains unknown. This study evaluated their impact on early lactation milk production and standardized 305-day yield (305MY) using
Mario Alfredo Espinosa-Martínez, Héctor Raymundo Vera-Ávila, Eliab Estrada-Cortés, Felipe de Jesús Ruiz-López, Luis Javier Montiel-Olguín   +4 more
doaj   +1 more source