Results 221 to 230 of about 3,256,140 (321)
Gareth R Willis +8 more
semanticscholar +1 more source
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson +3 more
wiley +1 more source
Passive Immunity Establishment Through Colostral IgG Absorption in Neonatal Ruminants: Foundation for Efficient Ruminant Production. [PDF]
Yang C +4 more
europepmc +1 more source
Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes
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 +6 more
wiley +1 more source
Single-cell transcriptomic analysis suggests potential differences in the developmental stage and quantity of adipose progenitor cells between bovine intramuscular and subcutaneous fat. [PDF]
Tan Z, Lyu P, Jiang H.
europepmc +1 more source
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston +35 more
wiley +1 more source
Transcriptome sequencing reveals the key genes associated with hair follicle development in Qianhua Mutton Merino. [PDF]
Qin Z, Sun X, Sun L, Yu M, Jiang H.
europepmc +1 more source
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington +2 more
wiley +1 more source
Extent and activity of adult hippocampal neurogenesis. [PDF]
Betters RK +3 more
europepmc +1 more source
Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu +6 more
wiley +1 more source

