Results 61 to 70 of about 213,312 (264)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta +9 more
wiley +1 more source
Revista Colombiana de Cardiología, 2008 Las estatinas son medicamentos hipolipemiantes que han demostrado ser indispensables y seguros en el manejo de la dislipidemia y como prevención secundaria en pacientes de alto riesgo cardiovascular. Sin embargo, en ocasiones su uso se ve limitado por el
Adriana L Vanegas, Nicolás Jaramillo
doaj
Information Literacy For The Net Generation To Anticipate The Danger Of Intolerance
Jurnal Aspikom, 2019 Intolerance behaviors that are not anticipated may give birth to the danger of radicalism both psychologically and physically. This study aims at exploring the way to select and discover informational sources related to the topics; at investigating a ...
Heni Nuraeni Zaenudin, Suwatno .
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta +17 more
wiley +1 more source
Re-Membering the Past: Historical Film and the Embodied Viewer
Research in Film and History, 2018 In 1895 the Edison short, THE EXECUTION OF MARY, QUEEN OF SCOTS (USA 1895) staged a fully “fleshed out” historical beheading on film. By putting members and flesh onto otherwise mental images of historical figures, the film showcased the new medium’s ...
Allred, Mason Kamana
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Sovremennye Issledovaniâ Socialʹnyh Problem, 2015 The article presents the results of theoretical and empirical research on the interrelation of coping strategies and ethnic tolerance of the elder teenagers.
Marina Sergeevna Igonina
doaj +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 +6 more
wiley +1 more source
Jurnal Madania, 2019 This study discusses moderate Islam in West Java based on the perspectives of five mainstream Islam mass organizations: Nahdlatul Ulama, Muhammadiyah, Persatuan Umat Islam, Persatuan Islam, and Jami’atul Washliyah, concerning intolerance cases in the ...
Wawan Hernawan +2 more
doaj +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena +13 more
wiley +1 more source