Results 91 to 100 of about 3,708 (168)

Characterization of Novel Variants in <i>P2YRY12, GP6</i> and <i>TBXAS1</i> in Patients with Lifelong History of Bleeding. [PDF]

Biomolecules
Zamora-Cánovas A, Marín-Quílez A, Díaz-Ajenjo L, Sánchez-Fuentes A, Gómez-González PL, Crescente M, Fernández-Mosteirín N, Padilla J, González-Porras JR, Benito R, Lozano ML, Bastida JM, Rivera Pozo J.   +12 more
europepmc   +1 more source

RECOMBINATION IN PHAGE: ITS RELATIONSHIP TO HETEROZYGOSIS AND GROWTH

Cold Spring Harbor Symposia on Quantitative Biology, 1953
openaire   +2 more sources

Case report: neonatal cyanosis secondary to congenital methemoglobinemia, a cause to consider in newborn cyanosis. [PDF]

Transl Pediatr
Carmona-Nunez A, Adan Pedroso R, Arzuaga Mendez J, Alba Pavón P, López Herrera MC, Miguélez Velasco A, Ansó Olivan S, Astigarraga Aguirre I.   +7 more
europepmc   +1 more source

Genetic polymorphism of Plasmodium falciparum using merozoite surface proteins 1 and 2 (msp-1 and msp-2) genes in Oveng and Mintom, South region of Cameroon. [PDF]

BMC Infect Dis
Nanssong-Vomo CT, Feufack-Donfack LB, Bouopda-Tuedom AG, Ibrahima-Ibrahima, Kiam CB, Youmsi Fotso GJ, Kemeni MN, Fotso BT, Abate L, Eboumbou C, Ayong L, Mbida-Mbida JA, Nsango SE.   +12 more
europepmc   +1 more source

CARE-compliant case report: Nemaline myopathy caused by the ACTA1 p.Q139H missense mutation. [PDF]

Medicine (Baltimore)
Pei X, Zhai Y, Yang F, Lu W.
europepmc   +1 more source

Novel mutation (M_angera-E288V) in alpha-1 antitrypsin deficiency. [PDF]

Multidiscip Respir Med
Lorini G, Ottaviani S, Giana I, Accordino G, Balderacchi AM, Corsico AG, Ferrarotti I, Piloni D.   +7 more
europepmc   +1 more source

Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson's disease from Southern Italy. [PDF]

NPJ Parkinsons Dis
Gagliardi M, Procopio R, Annesi G, Buonocore J, Talarico M, Quattrone A, Quattrone A.   +6 more
europepmc   +1 more source

Preliminary investigation into the genetic etiology of short stature in children through whole exon sequencing of the core family. [PDF]

Open Life Sci
He J, Zhang S, Kang Y, Zhang Y, Zheng Z, Ruan M.   +5 more
europepmc   +1 more source

GNE myopathy with premature ovarian failure: Case report and review of the literature. [PDF]

Mol Genet Metab Rep
Yang S, Yang J.
europepmc   +1 more source

Editorial: Exploring gut neuroimmunology: focus on the enteric nervous system in health and disease. [PDF]

Front Neurosci
Otero-Losada M, Bhave S, Dora D.
europepmc   +1 more source