Results 251 to 260 of about 145,893 (342)

Applicability of Electroretinography Measurements in Congenital PAX6-Related Aniridia. [PDF]

Invest Ophthalmol Vis Sci
Zobor D, Knézy K, Besztercei B, Szigeti A, Csidey M, Kormányos K, Élo Á, Náray A, Szabó D, Nagy ZZ, Jávorszky E, Corton M, Maka E, Tory K, Barboni M, Szentmáry N.   +15 more
europepmc   +1 more source

Silent Threat: Internal Carotid Artery Hypoplasia and Its Role in Basilar Artery Aneurysm Formation – a Case Study

Paula Mežvinska, Artis Brokāns, Sergejs Pavlovičs, Matīss Dravnieks, Artūrs Balodis   +4 more
openalex   +2 more sources

Meta‐analysis of genetic mapping studies in mice reveals candidate epilepsy modifier genes that are outside the current drug development landscape

Epilepsia, EarlyView.
Abstract Objective Despite decades of development in anti‐seizure medications, ~30% of individuals remain refractory to all treatments, and none of the existing therapies are disease modifying. Identifying targets outside the current preclinical paradigm is critically important.
Giovanna L. Durante, Anna L. Tyler, Rod C. Scott, Amanda E. Hernan, J. Matthew Mahoney   +4 more
wiley   +1 more source

Neonatal Multiple Bone Fractures: A Case Report of Hypophosphatasia. [PDF]

Case Rep Endocrinol
Homyani DKA, Hemaiani SKA, Harthi QQA, Zahrani RA, Qarni ASA.   +4 more
europepmc   +1 more source

Environmental causes of human congenital malformations: The physician\u27s role in dealing with these complex clinical problems caused by environmental and genetic factors. [PDF]

, 2008
Brent, Robert L
core   +1 more source

Limbal cystotomy by fine needle aspiration of a translucent iris cyst in a horse

Equine Veterinary Education, EarlyView.
Summary A 4‐year‐old Cremello crossbred mare was referred to the Equine Veterinary Teaching Hospital of Utrecht University for a translucent iris cyst from the dorsal pupillary margin corpora nigra in the right eye. Although noninvasive diode laser treatment is the preferred method of pigmented cyst ablation, two attempts did not result in disruption ...
A. L. Hendrikx, S. Veraa, J. P. A. M. van Loon, H. Hermans, I. J. M. Slenter, E. M. S. Visser   +5 more
wiley   +1 more source

Improving the consistency and reproducibility of first-trimester nasal bone assessment: a new classification in a low-risk population. [PDF]

BMC Pregnancy Childbirth
Song WL, Ma HO, Han L, Li HR, Cui MY, Yang QW, Huang QW, Zhang LY, Xu X, Nan Y, Zhu C.   +10 more
europepmc   +1 more source

On the study of developmental genetics of isolated pulmonary hypoplasia. [PDF]

, 1982
Yukio Satow, N Okamoto, Lee Juing Yi, Hiroshi Sumida   +3 more
openalex  

Key Amniotic Fluid miRNAs as Promising Target Molecules for the Antenatal Prevention of Pulmonary Hypoplasia Associated with Congenital Diaphragmatic Hernia [PDF]

Angelika V. Timofeeva, Ivan S. Fedorov, Y Naberezhnev, Н.К. Тетруашвили, Gennady Sukhikh   +4 more
openalex   +1 more source

Protein tandem repeats that produce frameshifts can generate new structural states and functions

The FEBS Journal, EarlyView.
We explored an alternative protein structure landscape by analyzing amino acid sequences from frameshifted tandem repeats—regions prone to frameshifts. These frameshifts, especially in short repeats, lead to more drastic changes than in non‐repetitive regions, often altering structure, function, localization, and potentially contributing to disease ...
Zarifa Osmanli, Gudrun Aldrian, Jeremy Leclercq, Theo Falgarone, Santiago M. Gómez Bergna, Denis N. Prada Gori, Andrew V. Oleinikov, Ilham Shahmuradov, Andrey V. Kajava   +8 more
wiley   +1 more source