Results 121 to 130 of about 12,210 (188)

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders. [PDF]

Orphanet J Rare Dis
Wayhelova M, Vallova V, Broz P, Mikulasova A, Smetana J, Dynkova Filkova H, Machackova D, Handzusova K, Gaillyova R, Kuglik P.   +9 more
europepmc   +1 more source

A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D. [PDF]

Int J Mol Sci, 2021
Alesi V, Sessini F, Genovese S, Calvieri G, Sallicandro E, Ciocca L, Mingoia M, Novelli A, Moi P.   +8 more
europepmc   +1 more source

Critical congenital heart disease in extreme prematurity: Surgical outcomes from a specialized neonatal cardiac intensive care unit. [PDF]

JTCVS Open
Goldshtrom N, Vasquez A, Chaves DV, Kalfa D, Goldstone A, Cheung E, Levasseur S, Bacha E, Krishnamurthy G.   +8 more
europepmc   +1 more source

Influence of Light, Temperature, and Nutrient Availability on Growth and Biochemical Composition of Scenedesmus quadricauda Cultivated in Municipal Wastewater. [PDF]

Microorganisms
Venckus P, Lastauskienė E.
europepmc   +1 more source

Cataloguing experimentally confirmed 80.7 kb-long ACKR1 haplotypes from the 1000 Genomes Project database. [PDF]

BMC Bioinformatics, 2021
Srivastava K, Fratzscher AS, Lan B, Flegel WA.   +3 more
europepmc   +1 more source

Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing. [PDF]

Hum Reprod
Vogt EC, Bratland E, Berland S, Berentsen R, Lund A, Björnsdottir S, Husebye E, Øksnes M.   +7 more
europepmc   +1 more source

Development of the Gender, Sex, and Sexual Orientation ontology: Evaluation and workflow. [PDF]

J Am Med Inform Assoc, 2020
Kronk CA, Dexheimer JW.
europepmc   +1 more source

Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis. [PDF]

Int J Mol Sci, 2021
Alesi V, Dentici ML, Genovese S, Loddo S, Bellacchio E, Orlando V, Di Tommaso S, Catino G, Calacci C, Calvieri G, Pompili D, Ubertini G, Dallapiccola B, Capolino R, Novelli A.   +14 more
europepmc   +1 more source

Application of Whole Exome Sequencing in Congenital Secretory Diarrhea Diagnosis. [PDF]

J Pediatr Gastroenterol Nutr, 2019
Gupta A, Sanville J, Menz T, Warner N, Muise AM, Fiedler K, Martín MG, Padbury J, Phornphutkul C, Sanchez-Esteban J, Cerezo CS.   +10 more
europepmc   +1 more source

Materials diversity of hydrogel: Synthesis, polymerization process and soil conditioning properties in agricultural field. [PDF]

J Adv Res, 2021
Rizwan M, Rubina Gilani S, Iqbal Durani A, Naseem S.   +3 more
europepmc   +1 more source