Results 311 to 320 of about 11,580,920 (364)

Coinheritance of non‐deletional hemoglobin H disease with sickle cell trait

eJHaem
Veroniki Komninaka, Evangelia‐Eleni Ntelaki   +1 more
doaj   +1 more source

The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients. [PDF]

Sci Rep
Kafkas Ş, Abdelhakim M, Althagafi A, Toonsi S, Alghamdi M, Schofield PN, Hoehndorf R.   +6 more
europepmc   +1 more source

Human-based complex in vitro models: their promise and potential for rare disease therapeutics. [PDF]

Front Cell Dev Biol
Parvatam S, Pistollato F, Marshall LJ, Furtmann F, Jahagirdar D, Chakraborty Choudhury M, Mohanty S, Mittal H, Meganathan S, Mishra R.   +9 more
europepmc   +1 more source

Guidelines for Familial Adenomatous Polyposis (FAP): challenges in defining clinical management for a rare disease. [PDF]

Fam Cancer
Zare B, Monahan KJ.
europepmc   +1 more source

Fahr's disease presenting with ischemic stroke in young adult: a case report of rare disease with unique presentation. [PDF]

Ann Med Surg (Lond)
Mishra A, Dawadi B, Neupane N, Khanal SB, Neupane NP, Mishra A, Chaudhary B.   +6 more
europepmc   +1 more source

Alkaptonuria: a rare disease with multiorgan manifestation and a long-awaited diagnosis. [PDF]

BMJ Case Rep
Gundersen AD, Hornemann Borg M, Løkke A, Hilberg O.   +3 more
europepmc   +1 more source