Results 121 to 130 of about 1,605,720 (180)

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations. [PDF]

Nat Commun
Kobren SN, Moldovan MA, Reimers R, Traviglia D, Li X, Barnum D, Veit A, Corona RI, Carvalho Neto GV, Willett J, Berselli M, Ronchetti W, Nelson SF, Martinez-Agosto JA, Sherwood R, Krier J, Kohane IS, Undiagnosed Diseases Network, Sunyaev SR.   +18 more
europepmc   +1 more source

Comparison of phenomic profiles in the All of Us Research Program against the US general population and the UK Biobank. [PDF]

J Am Med Inform Assoc
Zeng C, Schlueter DJ, Tran TC, Babbar A, Cassini T, Bastarache LA, Denny JC.   +6 more
europepmc   +1 more source

Disrupted protein interaction dynamics in a genetic neurodevelopmental disorder revealed by structural bioinformatics and genetic code expansion. [PDF]

Protein Sci
Marino V, Phromkrasae W, Bertacchi M, Cassini P, Chakrabandhu K, Dell'Orco D, Studer M.   +6 more
europepmc   +1 more source

<i>Galleria mellonella</i> model recapitulates <i>Staphylococcus aureus</i> hemolysin toxicity and antibody-mediated mechanisms of protection. [PDF]

Front Microbiol
Cherubini E, Mandelli AP, Henrici De Angelis L, Brazzoli M, D'Andrea MM, Bagnoli F, Rossi Paccani S, Chiarot E.   +7 more
europepmc   +1 more source

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. [PDF]

Genet Med
Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H, Undiagnosed Diseases Network, Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA.   +27 more
europepmc   +1 more source

First microscopic and molecular identification of Cryptosporidium spp. in fat sand rats (Psammomys obesus) in Egypt and their potential zoonotic implications. [PDF]

Front Vet Sci
Mohamed SA, Anwar FAS, Gareh A, Ghallab MMI, Martínez R, Gouda AA, Alajmi FE, Alzaylaee H, García-Bocanegra I, Elmahallawy EK.   +9 more
europepmc   +1 more source

Genomic and functional characterization of a lytic <i>Klebsiella</i> phage UHKP with antibiofilm activity. [PDF]

Front Microbiol
Hassan M, Alvi IA, Khan SN, Ahmed D, Asif M, Saleem A.   +5 more
europepmc   +1 more source

Emergency laparoscopic Hartmann procedure no longer a subspecialist operation: a retrospective cohort study at an Australian non-subspecialized center. [PDF]

J Minim Invasive Surg
Cattanach D, Tilleard P, Bednarz J, Stephensen B.   +3 more
europepmc   +1 more source

Controlling the motion of gravitational spinners and waves in chiral waveguides. [PDF]

Sci Rep
Kandiah A, Jones IS, Movchan NV, Movchan AB.   +3 more
europepmc   +1 more source

Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia. [PDF]

Hum Mol Genet
Hoang HD, Spillmann RC, Wegner DJ, Tedesco MG, Brohus M, Novelli A, Stregapede F, Rogaia D, Troiani S, Lesinski J, Yuan W, Fielder SM, Zhang B, Morrison S, Regmi S, Foti MRS, Baldridge D, Silverman GA, Undiagnosed Diseases Network, Shea P, Dickson P, Wambach JA, Overgaard MT, Jensen HH, Olsen A, Prontera P, Shashi V, Pak SC, Schedl T.   +28 more
europepmc   +1 more source