Related Experiment Videos
Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy
American Journal of Human Genetics
|November 1, 1994
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Technology to support bonding when separated at birth: A narrative review.
Journal of neonatal-perinatal medicine·2025
Measurement of the Isolated Nuclear Two-Photon Decay in ^{72}Ge.
Physical review letters·2024
Large magnetoresistance and quantum oscillations in Sn0.05Pb0.95Te.
Journal of physics. Condensed matter : an Institute of Physics journal·2021
[Chorioretinal atrophy in pediatric cerebral folate deficiency-a preventable disease?]
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·2020
Toward genome editing in X-linked RP-development of a mouse model with specific treatment relevant features.
Translational research : the journal of laboratory and clinical medicine·2018
Large-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain significance.
American journal of human genetics·2026
Loss of the human BRIP1 C terminus does not cause Fanconi anemia.
American journal of human genetics·2026
A massively parallel reporter assay of MECP2cis-regulatory elements reveals genetic candidates for male-biased autism.
American journal of human genetics·2026
Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I.
American journal of human genetics·2026
Integrating clinical diagnostics with interventional genetics for neurodevelopmental disorders.
American journal of human genetics·2026
Effect heterogeneity reveals complex pleiotropic effects of rare coding variants.
American journal of human genetics·2026
Comparison of monosodium iodoacetate, medial meniscal transection, and partial medial meniscectomy in vivo rat models of osteoarthritis from the pain and industrial perspective.
The Journal of pharmacology and experimental therapeutics·2026
Local ROS and inefficient autophagosome formation limit Optineurin-mediated mitophagy in neurons.
bioRxiv : the preprint server for biology·2026
[Tuberculous granuloma of the iris: a case report].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology·2026