BOIS 412/812: Human Genetics—A Peer Review of Teaching Project Benchmark Portfolio [PDF]
This portfolio focuses on Human Genetics, an upper-division course taken primarily by biology majors to fulfill elective credit in their degree. This course studies the genetic basis for human variation, with the goal of placing this variation in the ...
Meiklejohn, Colin D
core +3 more sources
Comments regarding the paper "Lesch-Nyhan syndrome: a case report" published recently by Park et al. in J Korean Assoc Oral Maxillofac Surg. [PDF]
Shapira J.
europepmc +1 more source
Red Blood Cells from Individuals with Lesch-Nyhan Syndrome: Multi-Omics Insights into a Novel S162N Mutation Causing Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency. [PDF]
Reisz JA+5 more
europepmc +1 more source
Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome. [PDF]
Zhang T+4 more
europepmc +1 more source
Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing. [PDF]
Jang G+8 more
europepmc +1 more source
Single-Electrode Deep Brain Stimulation of Bilateral Posterolateral Globus Pallidus Internus in Patients With Medically Resistant Lesch-Nyhan Syndrome. [PDF]
Baird-Daniel E+4 more
europepmc +1 more source
Research Treatments for Self Injurious Behavior with Unclear or Automatically Reinforced Causes and their Correlation to Least Restrictive Behavioral Interventions [PDF]
Self injurious behavior (SIB) is one of the most perplexing and frightening behaviors exhibited by some students. SIB is defined as behavior wherein the individual is engaging in repetitive or stereotypical behaviors that may and in some cases does ...
Blamires, Valarie
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Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch-Nyhan syndrome. [PDF]
Rana M, Cuttin K, Berry GT, Torres A.
europepmc +1 more source
Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch-Nyhan syndrome. [PDF]
AlBakheet A+5 more
europepmc +1 more source
Congenital anomalies-associated Riga-Fede disease as an early manifestation of Lesch-Nyhan syndrome: rare entities in the same pediatric patient-a case report. [PDF]
Eita AAB.
europepmc +1 more source