Results 81 to 90 of about 314 (159)

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

open access: yesOrphanet J Rare Dis
Wayhelova M   +9 more
europepmc   +1 more source

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

open access: yesInt J Mol Sci, 2021
Alesi V   +8 more
europepmc   +1 more source

LCSH and PRECIS in Library and Information Science: A Comparative Study [PDF]

open access: yes, 1992
This study aims to compare the performance of LCSH and PRECIS for the books published in 1987 in the field of library and information science (LIS) in order to investigate the strengths and weaknesses of each system. Subject headings and PRECIS strings assigned for 82 titles have been analyzed and the two major subject access systems have been compared
openaire   +1 more source

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

open access: yesJTCVS Open
Goldshtrom N   +8 more
europepmc   +1 more source

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

open access: yesHum Reprod
Vogt EC   +7 more
europepmc   +1 more source

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

open access: yesInt J Mol Sci, 2021
Alesi V   +14 more
europepmc   +1 more source

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