Results 171 to 180 of about 49,880 (266)

Neuroimaging Findings and Risk Factors for Brain Injury in Foetuses Treated for Anaemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Characterize neuroimaging findings in foetuses with anaemia and identify associated risk factors. Methods Retrospective cohort study of pregnancies with foetal anaemia (defined as haemoglobin > 2 standard deviations below the gestational age mean) confirmed by foetal blood sampling (FBS) and treated with intrauterine transfusion (IUT)
Laurence Sophie Carmant, Carlos Robles, Seungwoo Lee, Prakesh S. Shah, Greg Ryan, Elka Miller, Shiri Shinar   +6 more
wiley   +1 more source

Diagnostic efficiency of whole exome sequencing in the search for genetic causes of hereditary diseases in Yugra (West Siberia, Russia). [PDF]

Vavilovskii Zhurnal Genet Selektsii
Donnikov MY, Suchko PA, Morozkina AV, Kolbasin LN, Popova EA, Papanov SI, Koshevaya YS, Danilov LG, Eismont YA, Glotov OS, Kovalenko LV.   +10 more
europepmc   +1 more source

Expanding the Phenotype of PARK‐PRKN to Spastic Paraplegia: A Report of Two Cases

Movement Disorders Clinical Practice, EarlyView.
Nicolas Geoffre, Thomas Ollivier, Guillaume Baille, Luc Defebvre, Vincent Huin, Eugenie Mutez   +5 more
wiley   +1 more source

Ek ken jou goed genoeg … Die briefwisseling tussen N.P. van Wyk Louw en W.E.G Louw 1936-1939.

Tydskrif vir Letterkunde, 2018
Ampie Coetzee
doaj  

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC‐Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To present the prenatal sonographic features, genomic findings, and pregnancy outcomes of fetuses with biallelic pathogenic RNU4ATAC variants linked to microcephalic osteodysplastic primordial dwarfism type I (MOPD1). Methods This retrospective case series includes five prenatal cases with MOPD1.
Alexandra Liebmann, Tanja Richter, Nevena Krstić, Markus Hoopmann, Karl Oliver Kagan, Lena‐Sophie Menig‐Benzig, Simone Olivieri, Olaf Riess, Andreas Dufke   +8 more
wiley   +1 more source

Identification of novel compound heterozygous mutations in the GLB1 gene by whole-exome sequencing in a case of infantile GM1 gangliosidosis: a case report. [PDF]

Front Pediatr
Zhong G, Wang K, Liao K, Xie Q, Chen J, Yu R.   +5 more
europepmc   +1 more source

Conservation gap analysis for wild grapevines (Vitis L.) of the Americas

PLANTS, PEOPLE, PLANET, EarlyView.
Wild grapevines (Vitis L.) native to the Americas are ecologically and culturally important plants that are also critical to the global cultivated grape industry as sources of traits for crop innovation, but many of these species are poorly documented and insufficiently conserved.
Daniel Carver, Colin K. Khoury, Anne Frances, Nan McCarry, Luis Diaz‐Garcia, Erin R. Galarneau, Sarah Gora, Megan Haidet, Claire Heinitz, Wesley Knapp, Abby Meyer, Allison Miller, Ray Mims, Surya Sapkota, Carol Spurrier, Jun Wen   +15 more
wiley   +1 more source

Diagnostic yield and genetic landscape of rare pediatric diseases in Vietnam identified by exome sequencing. [PDF]

Sci Rep
Lu YT, Tran UV, Tran HT, Nguyen TL, Nguyen TM, Vu CD, Ta TA, Nguyen TT, Hoang LP, Pham AN, Vu PM, Cam PN, Dao Thi T, Nguyen KT, Nguyen TL, Tran KT, Nguyen KV, Nguyen YN, Le LT, Do TT, Nguyen HN, Hoang TN, Giang H, Tang HS.   +23 more
europepmc   +1 more source

Molecular and genomic advances in breast cancer: A comprehensive review of predictive and therapeutic innovations

Precision Medical Sciences, EarlyView.
Breast cancer subtypes, estrogen receptor‐positive (ER+), HER2‐enriched, and TNBC, are defined by genomic and epigenetic signatures. Multi‐omics profiling, immunotherapy, liquid biopsy, and AI‐driven radiogenomics enable precision medicine. Tools like Oncotype DX and PAM50 support personalized care.
Samina Malik, Arif Malik, Shahzad Ahmad, Hassan Mohsin, Shazia Iqbal   +4 more
wiley   +1 more source

Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder. [PDF]

Appl Clin Genet
Górecki M, Jaszczuk I, Lejman M.
europepmc   +1 more source