Results 91 to 100 of about 8,123 (151)

Research on LiDAR-Assisted Optimization Algorithm for Terrain-Aided Navigation of eVTOL. [PDF]

Sensors (Basel)
Zhang G, Zhou J, Duan Z, Zhao W.
europepmc   +1 more source

Deficiency in homozygous haplotypes reveals recessive lethal variants affecting fertility and viability in the Friesian horse. [PDF]

BMC Genomics
Steensma MJ, Ducro BJ, Doekes HP, Dibbits B, Groenen MAM, Derks MFL.   +5 more
europepmc   +1 more source

An intelligent MRI data fusion framework for optimized diagnosis of spinal tumors. [PDF]

Front Med (Lausanne)
Shi Z, Jiang J, Li M, Zhao X.
europepmc   +1 more source

Dystonia as an early and prominent feature in a patient with CYP2U1 gene mutation: expanding the phenotype of SPG56-a case report. [PDF]

Orphanet J Rare Dis
Alhamwy Z, Senjab A, Al-Bitar A, Alasmar D.   +3 more
europepmc   +1 more source

GPR97 variants and their influence on pathological myopia: implications for glucocorticoid treatment. [PDF]

Res Pharm Sci
Zhao Q, Mu Z, Gu H, Cheng W, Xu Y, Jiang Y, Wu G, Pu L.   +7 more
europepmc   +1 more source

Identification of a novel ACADSB variant for the presymptomatic diagnosis of 2-Methylbutyryl-CoA dehydrogenase deficiency through newborn screening in Iran. [PDF]

Orphanet J Rare Dis
Nasri M, Mahdieh N, Abbasi F, Mohsenipour R, Abdolahpour S.   +4 more
europepmc   +1 more source

Novel homozygous <i>SYNE1</i> missense variant in late onset autosomal recessive cerebellar ataxia 1: a case report. [PDF]

Ther Adv Neurol Disord
Selmaj I, Himmelreich N, Selmaj K.
europepmc   +1 more source

Long QT interval syndrome type 2 caused by a new missense mutation of KCNH2 gene: A case report. [PDF]

Medicine (Baltimore)
Ma Y, Wang L, Wu S, Peng C.
europepmc   +1 more source

Evaluating the VOCORDER device for early disease detection through breath analysis: study protocol for a two-phase clinical study. [PDF]

BMJ Open
Kontopidou F, Swift SJ, Kokkotis C, Moustakidis S, Kavouras I, Vidaki AN, Brebou S, Zavvos V, Panagiotou A, Iatrou C, Grosomanidis D, Zacharouli Z, Giannoukos S.   +12 more
europepmc   +1 more source

Clinical and Molecular Characterization of Pakistani Mucopolysaccharidosis Families with <i>SGSH</i> and <i>GALNS</i> Deficiencies. [PDF]

Genes (Basel)
Awan FN, Zulfiqar S, Eiman L, Asif M, Hussain MS, Dahl N, Baig SM, Oda H.   +7 more
europepmc   +1 more source