Results 211 to 220 of about 2,294,480 (366)

Loss of Na⁺,HCO₃ ^--Cotransporter NBCn1 Inhibits Net Acid Extrusion in the Atria and Causes Hypertension-Associated Cardiac Hypertrophy. [PDF]

Acta Physiol (Oxf)
Espejo MS, Orlowski A, Sørensen TM, Matchkov VV, Aiello EA, Boedtkjer E.   +5 more
europepmc   +1 more source

A CASE OF HEPATOCELLULAR CARCINOMA WITH METASTASES TO THE RIGHT VENTRICLE OF THE HEART

, 2000
Setsujyo Shiota, Ichiro Konishi, Naoki Sato, Kazuyoshi HOSHINO, Shinji Kajitani, Juro ABE, Hiroyuki Kishimoto, Ryuichi Hamazoe   +7 more
openalex   +2 more sources

Improved early ventricular performance with a right ventricle to pulmonary artery conduit in stage 1 palliation for hypoplastic left heart syndrome: evidence from strain Doppler echocardiography [PDF]

, 2004
Marina Hughes
openalex   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Differential regulation during development, aging, and disease implies heart cell specific functions of the Mediator Complex. [PDF]

J Mol Cell Cardiol Plus
Kolonay DW, Grueter CE, Baskin KK.
europepmc   +1 more source

Abnormalities Caused by Left Bundle Branch Block [PDF]

, 2010
Ginter, James F., Loftis, Patrick
core   +1 more source

Cardiovascular defects associated with abnormalities in midline development in the Loop-tail mouse mutant [PDF]

, 2001
Anderson, RH, Conway, SJ, Copp, AJ, Gerrelli, D, Greene, NDE, Henderson, DJ, Murdoch, JN   +6 more
core   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Relative Heart Ventricle Mass and Cardiac Performance in Amphibians

, 2000
Gregory J. Kluthe
openalex   +2 more sources

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source