Results 241 to 250 of about 752,857 (373)

Balloon dilatation for failed pyeloplasty is it a valid alternate option in pediatric age group: A comparative retrospective study. [PDF]

Urol Ann
Alqarni N, Alyami F, Alrumaih A, Joueidi F, Alshayie M, Alrefaei MA, Alsarari AA, Latta N, Enabi HMK, Alfattani A, Alsuwaida A.   +10 more
europepmc   +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

XXVI. On the Formation and Use of the Air-sacs and Dilated Tracheae in Insects. [PDF]

George Newport
openalex   +1 more source

ON THE MURMURS IN DILATED HEARTS AND THEIR EXPLANATIONS [PDF]

, 1914
Sara West
openalex   +1 more source

Heterogenous Nature of Flow-Mediated Dilatation in Human Conduit Arteries In Vivo: Relevance to Endothelial Dysfunction in Hypercholesterolemia

Circulation Research, 2001
M. Mullen, R. Kharbanda, J. Cross, A. Donald, Mia Taylor, P. Vallance, J. Deanfield, R. Macallister   +7 more
semanticscholar   +1 more source

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier, Christie A Boswell‐Patterson, Lucas Bronicki, Krista M. Vincent, Kalin Wilk, Andrea C. Yu, Gail E. Graham, Julie Richer   +7 more
wiley   +1 more source

Bestimmung der Constanten der thermischen Dilatation und des thermischen Druckes für einige quasi‐isotrope Metalle [PDF]

, 1893
W. Voigt
openalex   +1 more source

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source

Relationship Between Human Atrial Natriuretic Peptide and Tricuspid Valve Annular Dilatation in Patients With Atrial Fibrillation. [PDF]

Echocardiography
Izumi K, Utsunomiya H, Tohgi K, Takeuchi M, Hamada A, Hyodo Y, Tsuchiya A, Mogami A, Ueda Y, Takahari K, Nakano Y.   +10 more
europepmc   +1 more source

I. The Advantages of Dilatation in the Curative Treatment of Cancer of the Uterus [PDF]

, 1887
M Vulliet
openalex   +1 more source