Results 161 to 170 of about 25,119 (232)

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia. [PDF]

Nat Commun
Menden B, Incebacak Eltemur RD, Demidov G, Sturm M, Park J, Huridou C, Fath F, Nümann A, Baumann A, Diets IJ, Dufke C, Regensburger M, Rönnefarth M, Wilke V, van Os N, Vielhaber S, Rattay TW, Kohl Z, Peralta S, Pereira Sena P, Kellner M, Weissert N, Traschütz A, Zeltner L, Boelmans K, Deininger N, Schütz L, Gross C, Hinojosa Amaya AB, Raupach K, Hengel H, Harmuth F, Admard J, Bader I, Baumann S, Bender F, Bevot A, Bischoff A, Boschann F, Buchert R, Buchzik D, Casadei N, Catarino CB, Cordts I, Cremer K, Doebler-Neumann M, Ehmke N, Elbracht M, Falb RJ, Feindt T, Fleszar Z, Gerstner L, Gläser D, Grasshoff U, Grosch S, Grundmann K, Gutschalk A, Haaga M, Hayer S, Hehr U, Hellenbroich Y, Henn W, Herr B, Herzog R, Horber V, Deppe J, Kaiser N, Kehrer C, Kehrer M, Kern J, Keßler C, Khuller K, Klinkhammer H, Kotzaeridou U, Krawitz P, Kreiss M, Küpper H, Kuster A, Laugwitz L, Lesemann A, Lichey N, Linden T, Macek B, Magg J, Mangold E, Manka E, Marquardt I, Mehnert K, Mengel D, Morlot S, Oehl-Jaschkowitz B, Pauly MG, Philipp M, Radelfahr F, Rautenberg M, Riess A, Saft C, Schlotter-Weigel B, Schmidt A, Schwaibold EMC, Spahlinger V, Spranger S, Steiner KM, Stendel C, Thieme A, Tzschach A, Velic A, Wiethoff S, Wilke C, Züchner S, Zittel S, Solve-RD consortium, Husain RA, Deschauer M, Distelmaier F, Dufke A, Graessner H, Hemmer B, Jacobi H, Klockgether T, Klopstock T, Kobeleva X, Korenke GC, Kuechler A, Kuhlenbäumer G, Kurth I, Nguyen HP, Wunderlich G, Zeuner KE, Klebe S, Auer-Grumbach M, Butryn M, Winkler J, Timmann D, Synofzik M, van de Warrenburg B, Schüle R, Schöls L, Ossowski S, Riess O, Weber JJ, Haack TB.   +141 more
europepmc   +1 more source

In-depth analysis of osmotic gradient ektacytometry parameters across different genotypes in hereditary spherocytosis. [PDF]

Br J Haematol
de Wilde JRA, Kuppens GZL, Boesveld ME, van Vuren AJ, van Solinge WW, Waanders E, van Beers EJ, Rab MAE, Bartels M, van Wijk R.   +9 more
europepmc   +1 more source

Clinical Characteristics and Gene Mutations of Hereditary Spherocytosis in 59 Chinese Children. [PDF]

Mol Genet Genomic Med
Li Y, Wang Y, Liu T, Xiao L, Huang L, Zhang Y, Xiang Y, Yu J.   +7 more
europepmc   +1 more source

Deconvolution of Red Blood Cells Thermal Fluid Biopsy Following Systematic Cyclophosphamide or Cilostazol Drug Therapies. [PDF]

Biology (Basel)
Ferencz A, Lőrinczy D.
europepmc   +1 more source

Association between Cold-Inducible RNA-Binding Motif 3 and Hypothermia Effect in Murine Hypoxia-Ischemia Model Measured by Hyperpolarized ¹³C MRI. [PDF]

Dev Neurosci
Liu X, Jiang X, Capper AM, Stewart N, Byrne W, Ji X, Ellison J, Xu D, Ferriero DM.   +8 more
europepmc   +1 more source

Blood-based biomarkers GFAP/UCH-L1 for the diagnosis of mild traumatic brain injury (mTBI): a single-center implementation experience. [PDF]

Eur J Trauma Emerg Surg
Maegele M, Breidenbach L, Kaufmann J, Keles Y, Uhl E, Schroeer P.   +5 more
europepmc   +1 more source

Axon Initial Segment: Structure, Biological Functions, Diseases, and Therapeutic Targets. [PDF]

MedComm (2020)
Song DY, Yuan L, Yang W, Li W, Li JY.
europepmc   +1 more source

A novel <i>ANK1</i> gene mutation associated with hereditary spherocytosis: a case report. [PDF]

Front Pediatr
Lai M, Luo Z, Yang Z, Pan R, Huang W, Zhang W, Ma G, Chen R.   +7 more
europepmc   +1 more source

Crossed Erythrocytes Agglutination Pattern Observed in a Patient With Hereditary Elliptocytosis. [PDF]

Int J Lab Hematol
Melo MAW, Silveira CM, Ribeiro MM, Arcanjo GS.   +3 more
europepmc   +1 more source

Homozygous α-Spectrin (SPTA1) Variant Causing Persistent Hereditary Pyropoikilocytosis in a Newborn: A Case Report and Literature Review. [PDF]

Int Med Case Rep J
Sayed J, Alabdulhadi AS, Alzahrani WA, Joueidi F, Alzahrani GA, Sayed AG, Ebid GT.   +6 more
europepmc   +1 more source