Results 141 to 150 of about 6,315,325 (309)
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 +21 more
wiley +1 more source
, 1971 Interview with Rika Sanderson (nee Funcke, 1899-1977) of Nakusp, conducted by Milton Parent at the home of Doreen Desrochers in Nakusp, British Columbia, 1971.
core
Single-Parent Families, Educational Gradient, and Child Deprivation: The Cases of Italy and Spain. [PDF]
Child Indic Res, 2022 Pérez-Corral AL, Moreno Mínguez A.
europepmc +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
, 1975 Interview with George Moul (1904-1978), formerly of Glenbank, conducted by Milton Parent at the Moul home in Kitsilano, Vancouver, British Columbia, April 1975.
core
The effects of virtual logotherapy on health-promoting lifestyle among single-parent adolescent girls during the coronavirus disease 2019 pandemic: a randomized clinical trial. [PDF]
BMC Womens Health, 2023 Hosseinzadeh F +3 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li +11 more
wiley +1 more source
, 1971 Interview with Art Genelle (1894-1981), formerly of Nakusp, conducted by Milton Parent at Mr. Genelle's home in Port Moody, British Columbia, July 1971. Also present are Mary Genelle (Mr.
core
Network analysis of England's single parent household COVID-19 control policy impact: a proof-of-concept study. [PDF]
Epidemiol Infect, 2022 Edelman NL +3 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source