Results 101 to 110 of about 12,619 (163)

Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity. [PDF]

Proc Natl Acad Sci U S A
Riahi Z, Boucher S, Abdi S, Wong Jun Tai F, Singh-Estivalet A, Aghaie A, Niasme-Grare M, Hardelin JP, Behlouli A, Dahmani M, Talbi S, Bouyacoub Y, Mkaouar R, Charfeddine C, Amalou G, Bakhchane A, Bousfiha A, Salime S, Elrharchi S, Salame M, Hadrami M, Boussaty E, Charoute H, Detsouli M, Snoussi K, Rouba H, Hachmi HE, Veten F, Meiloud G, Marrakchi J, Zainine R, Chahed H, Besbes G, Trabelsi M, Mrad R, Kraoua I, Ouhab S, Djennaoui D, Boudjenah F, Chouery E, Mustapha M, Houmeida A, Barakat A, Khodja FA, Makrelouf M, Zenati A, Beltaief N, Abdelhak S, Petit C, Bonnet C.   +49 more
europepmc   +1 more source

ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration. [PDF]

Brain
Del-Pozo-Rodriguez J, Tilly P, Lecat R, Vaca HR, Mosser L, Brivio E, Balla T, Gomes MV, Ramos-Morales E, Schwaller N, Salinas-Giegé T, VanNoy G, England EM, Kern Lovgren A, O'Leary M, Chopra M, Meave Ojeda N, Toosi MB, Eslahi A, Alerasool M, Mojarrad M, Pais LS, Yeh RC, Gable DL, Hashem MO, Abdulwahab F, Rakiz Alqurashi M, Sbeih LZ, Adas Blanco OA, Khater RA, Oprea G, Rad A, Alzaidan H, Aldhalaan H, Tous E, Alsagheir A, Alowain M, Tamim A, Alfayez K, Alhashem A, Alnuzha A, Kamel M, Al-Awam BS, Elnaggar W, Almenabawy N, O'Donnell-Luria A, Neil JE, Gleeson JG, Walsh CA, Alkuraya FS, AlAbdi L, Elkhateeb N, Selim L, Srivastava S, Nedialkova DD, Drouard L, Romier C, Bayam E, Godin JD.   +58 more
europepmc   +1 more source

A histo-clinical score to predict evolution to radioactive iodine-refractory of the follicular cell-derived thyroid carcinoma (PREDIRAIR): a single-centre, prospective, cohort study. [PDF]

EClinicalMedicine
Mebarki L, Andre E, Subtil F, Bournaud C, Borson-Chazot F, Lifante JC, Abeillon J, Castellnou S, Descotes F, Raverot V, Bertholon-Gregoire M, Ilie MD, Decaussin-Petrucci M, Lasolle H.   +13 more
europepmc   +1 more source

Developmental stage dominates cell-type identity and reveals a chromatin regulatory function for Rad50 in Drosophila. [PDF]

Nucleic Acids Res
Boutet T, Sakr R, Marzullo M, Goyal M, Cattenoz PB, Ciapponi L, Mukherjee T, Giangrande A.   +7 more
europepmc   +1 more source

Correction to: Increase of niche filling with increase of host richness for plant-infecting mastreviruses. [PDF]

Virus Evol
europepmc   +1 more source

A Partial <i>UMOD</i> Deletion Results in Altered Uromodulin Synthesis and Autosomal-Dominant Tubulointerstitial Kidney Disease-Uromodulin. [PDF]

Kidney Med
Fagnoul S, Ghisdal L, Marangoni M, Detry C, Dacremont-Rodriguez P, Bisteau X, Imbault V, Catalano C, Smits G, Le Moine A, Migeotte I.   +10 more
europepmc   +1 more source

Hypoxia Independently Induces AID Expression in CH12 B Cells. [PDF]

Eur J Immunol
Heyer V, Haidar Ahmad S, Haddad M, Argentieri I, Gessier C, Reina-San-Martin B.   +5 more
europepmc   +1 more source

A Cross-Sectional Study Shows Emergence of the Delta, 19B, 20A, 20B, 19A, and Omicron Variants of SARS-CoV-2 in Burkina Faso: A Conundrum Within a Conundrum. [PDF]

Health Sci Rep
Lallogo TD, Traore L, Tibiri EB, Sorgho PA, Bado P, Yelemkoure TE, Name PE, Bazie VJTE, Tiendrebeogo F, Sombie HK, Ouattara AK, Soubeiga ST, Zoure AA, Yonli AT, Bicaba B, Ouedraogo RA, Zohoncon TM, Djigma FW, Lamien/Sanou A, Lompo OM, Simpore J.   +20 more
europepmc   +1 more source

Exon skipping peptide-conjugated morpholinos downregulate dynamin 2 to rescue centronuclear myopathy. [PDF]

Brain
Moschovaki-Filippidou F, de Carvalho Neves J, Diedhiou N, Jad Y, Böhm J, Wood MJA, Varela MA, Laporte J.   +7 more
europepmc   +1 more source

Improving ALS Molecular Diagnosis Through Functional Assays: Reassessment of a <i>SOD1</i> Variant of Uncertain Significance. [PDF]

Int J Mol Sci
Bedja-Iacona L, Forget A, Boisseau C, Marouillat S, Chudinova A, Veyrat-Durebex C, Guissart C, Lumbroso S, Raoul C, Andres CR, Blasco H, Couratier P, Corcia P, Verschueren A, Mouzat K, Vourc'h P.   +15 more
europepmc   +1 more source