نتائج البحث - "Wyatt W, Yue"

المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Hochberg, I, Demain, L, Richer, J, Thompson, K, Urquhart, J, Rea, A, Pagarkar, W, Rodriguez-Palmero, A, Beaman, G, O'Sullivan, J, Williams, S, Bhaskar, S, O'Keefe, R, Newman, W & Munro, K 2021, ' Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations ', American Journal of Human Genetics, vol. 108, no. 11, pp. 2195-2204 . https://doi.org/10.1016/j.ajhg.2021.10.002Test
American Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname

مصطلحات موضوعية: Male, leukodystrophy, RNA, Mitochondrial, Ribonuclease P/genetics, Mitochondrion, sensorineural hearing loss, RNase P, 0302 clinical medicine, RNA, Transfer, MRPP3, PRORP, Mitochondrial tRNA processing, Genetics (clinical), Genetics, 0303 health sciences, 1184 Genetics, developmental biology, physiology, mitochondria, Genetic Pleiotropy, Phenotype, Perrault syndrome, Pedigree, Rare diseases, Mitochondria, Sensorineural hearing loss, Female, Malalties rares, RNA, Transfer/genetics, Adult, Mitochondrial RNA processing, Protein subunit, rare disease, Primary ovarian insufficiency, Biology, Ovary diseases, Ribonuclease P, 03 medical and health sciences, Report, Complementary DNA, Humans, Allele, Alleles, 030304 developmental biology, Malalties de l'ovari, MUTATIONS, primary ovarian insufficiency, Leukodystrophy, HSD10 DISEASE, MODEL, RNA, Mitochondrial/genetics, Mitochondria/enzymology, Rare disease, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::241fe6274c9c1aa9800aa3fa346a2bb1Test
https://ddd.uab.cat/record/250495Test

9

Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease

المؤلفون: Fatma Taha, Daniel Weghuber, Johannes A. Mayr, Johannes Spenger, Elaina M. Maldonado, Florence van den Broek, Wyatt W. Yue, Saskia B. Wortmann, Simon Heales, Zdenek Jaros, Brigitte Meunier, Lamia Mestek-Boukhibar, Shamima Rahman, James Davison, Emma Clement

المساهمون: Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Biogenèse et fonctionnement des complexes OXPHOS mitochondriaux (BIOMIT), Département Biologie Cellulaire (BioCell), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 2020, 106, pp.256-263. ⟨10.1016/j.ajhg.2020.01.005⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106, pp.256-263. ⟨10.1016/j.ajhg.2020.01.005⟩
Am. J. Hum. Genet. 106, 256-263 (2020)
Am J Hum Genet

مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, Microcytic anemia, [SDV]Life Sciences [q-bio], rapid genome sequencing, Sequence Homology, 0302 clinical medicine, Cerebellum, cyclic FMN, Phosphorylation, innate immunity, Genetics (clinical), Exome sequencing, 2. Zero hunger, Genetics, Homozygote, Galactosemia, Pedigree, 3. Good health, developmental delay, Phosphotransferases (Alcohol Group Acceptor), Phenotype, Child, Preschool, Lactic acidosis, cataracts, Female, Phosphorus-Oxygen Lyases, TKFC, Biology, Nervous System Malformations, Cyclase, Cataract, 03 medical and health sciences, Report, Exome Sequencing, medicine, inborn error of metabolism, Humans, Phosphofructokinase 2, Amino Acid Sequence, Kinase activity, Alleles, Cardiomyopathy, Cataracts, Cyclic Fmn, Developmental Delay, Fructose Metabolism, Inborn Error Of Metabolism, Innate Immunity, Rapid Genome Sequencing, Tkfc, Triokinase, Infant, medicine.disease, triokinase, fructose metabolism, 030104 developmental biology, Inborn error of metabolism, Mutation, cardiomyopathy, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a704de9174a9612ac3e1dd7437d847fTest
https://hal.science/hal-02464288/documentTest

10

Dehydrogenase E1 and transketolase domain-containing protein 1 (DHTKD1); A Target Enabling Package

المؤلفون: Gustavo A. Bezerra (6845150), William R. Foster (1744990), Henry J. Bailey (6845153), Kevin G. Hicks (10040155), Sven W. Sauer (6598019), Bianca Dimitrov (10040158), Thomas J. McCorvie (10040161), Jurgen G. Okum (10040164), Jared Rutter (2128906), Stefan Kӧlker (10040167), Wyatt W. Yue (1317096)

العلاقة: https://figshare.com/articles/dataset/Dehydrogenase_E1_and_transketolase_domain-containing_protein_1_DHTKD1_A_Target_Enabling_Package/13648000Test

الإتاحة: https://doi.org/10.5281/zenodo.4469332Test

View record in BASE

تنقيح النتائج