Results 191 to 200 of about 1,223,717 (337)

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Dental Treatment Discontinuation for Financial Reasons Among Patients with Cancer: A Cross-Sectional Study with Non-Cancer Controls. [PDF]

J Clin Med
Lee K.
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

Commodity Bundling in the Japanese Non-Life Insurance Industry: Savings-Type Products as Self-Selection Mechanism

, 1996
Klaus Wallner
openalex   +1 more source

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales, Kathleen Shields, Meagan Choates, Paul Hillman, Laura Farach, Theresa Wittman, Kathryn Leal   +6 more
wiley   +1 more source

From diagnosis to survivorship: Exploring health trajectories of cancer patients in India through a life course perspective. [PDF]

Palliat Care Soc Pract
Sahu S, Kashyap GC, Divakar C, Chattopadhyay S.   +3 more
europepmc   +1 more source

Copula-based risk measures in non-life insurance portfolio

, 2022
Alicja Wolny–Dominiak, Tomasz Żædlo
openalex   +1 more source

Superannuation Reimagined: Moving Beyond the Origins to an Indigenous Focus

Australian Journal of Social Issues, EarlyView.
ABSTRACT Retirement income systems, such as superannuation, are meant to be non‐discriminatory and consider disadvantage faced by members of society. There are significant differences between the life expectancies of Indigenous and non‐Indigenous peoples. The gap in life expectancies is not considered when determining when Indigenous peoples can retire.
Levon Ellen Blue, Peter Anderson, Mark Brimble   +2 more
wiley   +1 more source

Addressing genetic discrimination for stronger legal protections and enhanced public awareness. [PDF]

NPJ Genom Med
Takahashi S, Lan T, Toh HJ, Nord-Bronzyk AJ, Teo I, Menon S, Savulescu J, Schaefer O.   +7 more
europepmc   +1 more source

Stochastic reserving methods in non-life insurance

, 2013
Liivika Tee
openalex   +1 more source