Results 221 to 230 of about 237,133 (291)

A versatile cohesion manipulation system probes female reproductive age-related egg aneuploidy. [PDF]

Nat Aging
Leem J, Lemonnier T, Khutsaidze A, Tian L, Xing X, Bai S, Nottoli T, Mogessie B.   +7 more
europepmc   +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

Expanding the landscape of nucleotide excision repair disorders: from discovery to therapy. [PDF]

J Clin Invest
Theil AF, Hoeijmakers JH.
europepmc   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Meiotic cohesion requires Sirt1 and preserving its activity in aging oocytes reduces missegregation. [PDF]

EMBO Rep
Meng Z, Norwitz NG, Bickel SE.
europepmc   +1 more source

Measuring Child Disadvantage: Comparing Multidimensional and Socioeconomic Approaches for Predicting Developmental Outcomes

Australian Journal of Social Issues, EarlyView.
ABSTRACT Robust measurement of disadvantage is essential to identifying and addressing inequities in children's development. We tested how a multidimensional framework of child disadvantage performed relative to a traditional socioeconomic position (SEP) approach to predict developmental outcomes.
Wei Hong, Fiona Mensah, Elodie O'Connor, Shuaijun Guo, Sharon Goldfeld, Meredith O'Connor, Cindy Pham, Sarah Gray   +7 more
wiley   +1 more source

The implications of LncRNAs and premature ovarian insufficiency. [PDF]

J Ovarian Res
Zhao Q, Li XL, Lin GY, Sui CL, Zhang BF, Bai YQ, Xu LW.   +6 more
europepmc   +1 more source

Genetic variants in HELB contribute to premature ovarian insufficiency and early age of natural menopause. [PDF]

JCI Insight
Pan Y, Yu Y, Mo J, Ren S, Zhou Z, Yang X, Liu Y, Zhang F, You Y, Zhang X, Wu Y.   +10 more
europepmc   +1 more source