Results 201 to 210 of about 130,902 (295)

Frazzled/DCC Regulates Gap Junction Formation at a <i>Drosophila</i> Giant Synapse. [PDF]

eNeuro
Lopez J, Boerner J, Robbins K, Pena RFO, Murphey R.   +4 more
europepmc   +1 more source

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive. [PDF]

J Clin Invest
Johannesen KM, Aung KP, Liao VW, Absalom N, Chua HC, Gan XN, Mao M, McKenzie CE, Lee HM, Ortiz S, Spillmann RC, Shashi V, Radtke RA, Mirzaa GM, Weisner PA, Flores Daboub J, Hagedorn C, Bayrak-Toydemir P, DeMille D, Zhao J, Bajaj N, Capri Y, Keren B, Schmidts M, van de Laar IM, van Slegtenhorst MA, Ploski R, Bogotko M, Bourque DK, Alkhunaizi E, Chad L, Quercia N, Elloumi H, Wentzensen IM, Kruer MC, Bisarad P, Galaz-Montoya CI, Rusu V, Braun D, Angione K, Win JC, Espinosa-Jovel C, Zacher P, Platzer K, Berkovic SF, Scheffer IE, Chebib M, Rubboli G, Møller RS, Reid CA, Ahring PK.   +50 more
europepmc   +1 more source

Maltreated and misdiagnosed finger fractures: a malpractice claim analysis from the Swedish national patient insurance register 2011-2021. [PDF]

J Hand Microsurg
Andersson JK, Davidsson A, Sagerfors M.
europepmc   +1 more source

Martin-Löf random points satisfy Birkhoff’s ergodic theorem for effectively closed sets

, 2012
Johanna N. Y. Franklin, Noam Greenberg, Joseph S. Miller, K. Ng   +3 more
semanticscholar   +1 more source

Complete loss of SLC30A8 in humans improves glucose metabolism and beta cell function. [PDF]

Diabetologia
Lamarche LB, Koch C, Khalid S, Khan MZ, Zessis R, Clement ME, Denning DP, Goldfine AB, Splawski I, Abbasi A, Harrow JL, Underwood C, Tsunoyama K, Asaumi M, Kou I, Rodriguez-Flores JL, Shuldiner AR, Rasheed A, Jahanzaib M, Mian MR, Liaqat MB, Abdulsalam U, Sultana R, Jalal A, Saeed MH, Abbas S, Memon FR, Ishaq M, Gurtan AM, Dominy JE, Saleheen D.   +30 more
europepmc   +1 more source

Large-scale functional assessment of variants of the potassium channel Kir2.1: Clinical and comparative insights. [PDF]

J Biol Chem
Anderson CL, Munuwar S, Walters JK, McWilliams SF, Melnick M, Langer ER, Bereslavskyy I, Milaitis MR, Reilly L, Eckhardt LL.   +9 more
europepmc   +1 more source

Automated patch clamp data improve variant classification and penetrance stratification for SCN5A-Brugada syndrome. [PDF]

Eur Heart J
O'Neill MJ, Ma JG, Aldridge JL, Solus JF, Harvey GR, Roberson PH, Barc J, Bezzina CR, Roden DM, Walsh R, Vandenberg JI, Glazer AM, Ng CA.   +12 more
europepmc   +1 more source

Association of Clopidogrel Genetic Polymorphism With Efficacy and Safety for Ischemic Stroke or Transient Ischemic Attack: A Systematic Review and Updated Meta-Analysis. [PDF]

J Clin Neurol
Park H, Jung YH, You S, Yun J, Kim YH, Chang Y, Park MS, Song TJ, Lee KY.   +8 more
europepmc   +1 more source

Functional analysis of telomere maintenance mechanisms is more informative than immunohistochemistry for ATRX mutation interpretation in Gliomas. [PDF]

Acta Neuropathol Commun
Guerriau C, Léonce C, Carpentier C, Mokhtari K, Bielle F, Dridi-Aloulou A, Lomonte P, Meyronet D, Sanson M, Castro-Vega L, Poncet DA.   +10 more
europepmc   +1 more source

T2T-CHM13 improves read mapping and detection of clinically relevant genetic variation in the Swedish population. [PDF]

Genome Res
Schmitz D, Ameur A, Johansson Å.
europepmc   +1 more source