Results 251 to 260 of about 1,187,067 (387)

Detection of Hematological Malignancies Using N-NOSE (Nematode-NOSE). [PDF]

Hematol Oncol
Nakamura S, Hatakeyama H, Yoshida S, Ungkulpasvich U, Hirotsu T, di Luccio E, Abe M.   +6 more
europepmc   +1 more source

THE LYMPHATIC PATHWAY FROM THE NOSE AND PHARYNX [PDF]

, 1938
J. M. Yoffey, Eugene R. Sullivan, Cecil K. Drinker   +2 more
openalex   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Research Communication: Breath Testing for Colorectal Cancer Detection in Patients With a Positive Fecal Immunochemical Test: A Multicentre Prospective Cross-Sectional Study With External Validation. [PDF]

Aliment Pharmacol Ther
van Riswijk MLM, van Keulen KE, Tan ACITL, Schrauwen RWM, de Vos Tot Nederveen Cappel WH, Siersema PD, eNose CRC study group.   +6 more
europepmc   +1 more source

A Treatise on Diseases of the Nose and Throat [PDF]

, 1901

openalex   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Nose-to-brain drug delivery: from bench to bedside. [PDF]

Transl Neurodegener
Drath I, Richter F, Feja M.
europepmc   +1 more source

Modern Trends in Diseases of the Ear, Nose and Throat [PDF]

, 1954

openalex   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Data Fusion of Electronic Nose and Multispectral Imaging for Meat Spoilage Detection Using Machine Learning Techniques. [PDF]

Sensors (Basel)
Kodogiannis VS, Alshejari A.
europepmc   +1 more source