Results 271 to 280 of about 828,055 (319)

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR‐Gene Family

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +1 more source

Unexpected Resection of Gray Ramus Communicans During Endoscopic Lumbar Surgery: A Report of Two Cases. [PDF]

Cureus
Shimizu A, Kin K, Takebayashi K, Koga H.
europepmc   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +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

Kinlessness and end-of-life care quality: does race and ethnicity matter? [PDF]

J Gerontol B Psychol Sci Soc Sci
Pei Y, Zhou Z, Ge S, Qi X, Wang K, Mao W, Wu B.   +6 more
europepmc   +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

A conserved chronobiological complex times C. elegans development. [PDF]

EMBO J
Spangler RK, Braun K, Ashley GE, van der Does M, Wruck D, Ramos Coronado A, Ragle JM, Iesmantavicius V, Morales Moya LJ, Daly K, Partch CL, Großhans H, Ward JD.   +12 more
europepmc   +1 more source

Trade-offs across life history stages and social association types shape winter communal roosting in a long-lived raptor. [PDF]

J Anim Ecol
Catitti B, Mindt LP, Aebischer A, Grüebler MU, Schlick-Steiner BC, Steiner FM, Kormann UG.   +6 more
europepmc   +1 more source

Thoracic Endovascular Aortic Repair with Reverse Aortic Arch Debranching Technique for Ascending Aortic Pseudoaneurysm. [PDF]

Ann Vasc Dis
Tada H, Kin K, Mikami T, Handa K, Yokoyama J, Shirakawa Y.   +5 more
europepmc   +1 more source

More Than Kin: Pennsylvania Supreme Court Rules That Stepfather Granted Custody Rights Also Owes Child Support

, 2016
Joanna L. Grossman
openalex   +1 more source