Results 201 to 210 of about 1,397,270 (265)

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

The lung cancer pathway: seven years of evaluation of multidisciplinary pre-operative management and workflow optimization. [PDF]

Front Surg
Nocera A, Petracca-Ciavarella L, Vita ML, Congedo MT, Scognamiglio C, Leoni C, Bellettati C, Senatore A, Napolitano AG, Nachira D, Lococo F, Meacci E, Margaritora S.   +12 more
europepmc   +1 more source

Five Practical Considerations for the Management of Out-of-hospital Cardiac Arrest: Reflections from the British Cardiovascular Intervention Society Out-of-hospital Cardiac Arrest Focus Group. [PDF]

Interv Cardiol
Movio G, Sajjad U, Ansell E, Simpson R, Mion M, Rees P, Johnson T, Curzen N, Maccaroni MR, Davies JR, Pareek N, Keeble TR.   +11 more
europepmc   +1 more source

The Multidisciplinary Management of A Fusion Involving a Permanent Maxillary Central Incisor and a Partially Erupted Supernumerary Tooth: A Case Report. [PDF]

Clin Case Rep
Irvine A, Juman S, Marley J, Fee P, McNeill A, Johnston C.   +5 more
europepmc   +1 more source

Paraganglioma: A Multidisciplinary Approach

, 2019
openaire   +2 more sources