research Integration of Point-of-Care Technology in the Decoding Process of Single Nucleotide Polymorphism for Healthcare Application †
Portable point-of-care testing can improve quick and accurate genetic disorder detection.
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660-690 / 1000+ resultsresearch Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research Ultrahigh-Power Sonicator Lysis Enables Deep ProteomicProfiling of Hair Shafts for Fetal Growth Restriction Biomarker Discovery
A new method helps find proteins in hair to identify fetal growth issues.
research Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia
Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
research Biology and Detection of Pregnanes During Late Gestation in the Mare
LC-MS/MS is essential for accurately detecting pregnanes in pregnant mares.
research Ultrahigh-Power Sonicator Lysis Enables Deep Proteomic Profiling of Hair Shafts for Fetal Growth Restriction Biomarker Discovery
A new method improves protein extraction from hair, helping identify potential biomarkers for fetal growth issues.
research Analysis of sequential hair segments reflects changes in the metabolome across the trimesters of pregnancy
Hair analysis can reveal metabolic changes and potential pregnancy complications.
research Pelvic ultrasound and color Doppler findings in different isosexual precocities
Ultrasound and color Doppler can help diagnose and decide treatment for early puberty in young girls.
research Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research 210 THE NEW APPROACH TO EARLY DIAGNOSIS OF ADENOMYOSIS
A new method can almost perfectly distinguish adenomyosis from similar conditions using blood tests.
research DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA
Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.
research DIABETES MELLITUS GESTACIONAL: DESFECHOS MATERNO-FETAIS E FATORES DE INFLUÊNCIA
Gestational diabetes increases risks for mothers and babies, needing early diagnosis and care.
research A pilot study of paternal drug exposure: the Motherisk experience
More research is needed on the safety of fathers' drug exposure before conception.
research Genital Dermatology
Skin changes during pregnancy are common, and non-invasive imaging is safe for monitoring these changes.
research Contaminants of emerging concern in the fetal environment
Fetal environments contain various chemicals that may disrupt hormones.
research Exploiting molecular genetic diagnoses of polycystic ovary syndrome to achieve better patient outcome
Improved genetic diagnosis of PCOS can lead to better patient outcomes.
research Genomic Portraiture: The Science and Ethics of DNA Phenotyping in Identity Prediction
DNA phenotyping can predict physical traits like eye, hair, and skin color, improving forensic investigations.
research Dermatological manifestations associated with pregnancy
Pregnancy can cause skin changes and conditions that need correct diagnosis and treatment for the health of the mother and baby.
research Dermatoses of pregnancy
Pregnancy can cause various skin changes and diseases, with PUPPP being the most common skin condition specific to pregnancy.
research FORENSIC DNA PHENOTYPING FOR CRIMINAL IDENTIFICATION
Forensic DNA phenotyping can now predict more physical traits and ancestry from DNA, but further improvements are needed.
research The role of ultrasound and Doppler analysis in the diagnosis of polycystic ovary syndrome
Ultrasound and Doppler analysis are valuable tools for diagnosing and understanding polycystic ovary syndrome.
research Forensic DNA Phenotyping: a review on SNP panels, genotyping techniques, and prediction models
Forensic DNA phenotyping faces challenges due to inconsistent terminology, limited genetic understanding, and debates over technology and models.
research The diagnostic algorithm in pre-invasive cervical lesions
Early screening and HPV vaccination reduce cervical cancer risk.
research Genotypic and Phenotypic Study of PDCD4 gene Concerning micro RNA-21 and micro RNA-449b Polymorphism in Breast Cancer
PDCD4 protein levels, affected by genetics and breastfeeding, may predict breast cancer treatment response.
research Forensic DNA Phenotyping
Forensic DNA Phenotyping accurately predicts physical traits and is used in investigations, but needs more diverse population data for confirmation.
research Forensic DNA phenotyping: a review on SNP panels, genotyping techniques, and prediction models
Forensic DNA phenotyping faces challenges like inconsistent terms and limited genetic knowledge.
research Forensic DNA phenotyping: the need for proportionate regulation and judicial clarity in law enforcement
Unified regulations and ethical guidelines are needed for fair use of forensic DNA phenotyping.
research Safety concerns of paternal drug exposure on fertility, pregnancy and offspring: An analysis based on the FDA adverse event reporting system
Paternal drug exposure can harm fertility, pregnancy outcomes, and offspring health, with specific drugs linked to various reproductive issues.
research Newborn screening for biotinidase deficiency: pilot study and follow-up of identified cases
Newborn screening for biotinidase deficiency is effective in preventing severe complications.
research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.