Results 241 to 250 of about 89,530 (308)

Innovative use of unhulled rice in Baijiu brewing: impact on flavor and microbial composition. [PDF]

Food Chem X
Liu MK, Liu CY, Tang YM, Liu Y, Su Y, Tian XH, Feng J, Ni XL.   +7 more
europepmc   +1 more source

On the Structure of Greek Tribal Society: An Essay [PDF]

Seebohm, Richarg Hugh
core  

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Microbial Community Analysis and Environmental Association in Cave 6 of the Yungang Grottoes. [PDF]

Microorganisms
Qiao S, Wang Z, Zhang R, Wang Y, Wang C, Gao G, Pan J.   +6 more
europepmc   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

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, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Synchronous mid-Holocene marine and terrestrial deglaciation in the Ross Sea, Antarctica. [PDF]

Nat Commun
Parker RL, Riesselman CR, Truax OJ, Jones RS, Lee JI, Lee MK, Jacobsen G, Rosenheim BE, Subt C, Zawadzki A, Ginnane C, Naeher S, Dunbar G, McKay RM, Levy R, Turnbull J, Yoo KC.   +16 more
europepmc   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

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, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Women\u27s Access to Land in Africa [PDF]

, 1991
Knowles, Jane B.
core   +1 more source

Microbial biotechnology meets ecological theory: a unified framework to design industrial microbial consortia. [PDF]

Int Microbiol
Belda I.
europepmc   +1 more source

Microbial community succession mediated by planting patterns in the Loess Plateau, China: Implications for ecological restoration. [PDF]

PLoS One
Li W, Cai J, Chen G, Liu Y, Wu X, Bai Y, Wu Y, Wang T.   +7 more
europepmc   +1 more source