Results 151 to 160 of about 1,724,681 (307)

Biological implications and therapeutic potential of phosphodiesterase inhibitors: A review. [PDF]

Medicine (Baltimore)
Alnazari M, Bakhsh A, Abdullah S, Al Qahtani S, Borhan W, Rajih E, Alshehri AM.   +6 more
europepmc   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Performance of an Automated Insulin Delivery System in Youth With Type 1 Diabetes During a Diabetes Summer Camp. [PDF]

J Diabetes Sci Technol
Sotiriou G, Kavoura E, Moutafi M, Dimitriadou M, Nemtsa A, Pappa K, Christoforidis A.   +6 more
europepmc   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Developing the future clinical research workforce: An immersive high school clinical research summer camp. [PDF]

J Clin Transl Sci
Fritter JM, Banks T, Harmon M, Sasindran S, Tadros S, Spacht DE, Carter KK, Fannin K, Jones L, Jones CT.   +9 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

‘Somewhere We Can Call Home and…Be Normal’: Findings From the Justice Housing Programme Evaluation

Australian Journal of Social Issues, EarlyView.
ABSTRACT The relationship between homelessness or unstable housing and reincarceration is well documented. The initial month after a person is released from custody is a period of particular vulnerability, with an increased risk of homelessness and return to prison.
Helen Taylor, Lorana Bartels
wiley   +1 more source

A Personal Interview With Dr. Jon C. Dalton

Journal of College Orientation, Transition, and Retention, 2010
Jeanine Ward-Roof
doaj   +1 more source

An inter-subunit path is required for entropically-driven and negatively cooperative binding of cyclic nucleotides in the HCN2 channel. [PDF]

Commun Biol
Costa F, Ng LCT, Chow SS, Van Petegem F, Accili EA.   +4 more
europepmc   +1 more source

Belsen Camp [PDF]

BMJ, 1945
openaire   +2 more sources