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[Folic acid and neural tube defects: dose-response relationship confirmed].
pubmed · 25632604
Literaturverweis öffnenThanatophoric Dysplasia Type I Confirmed by Fibroblast Growth Factor Receptor 3 (FGFR3) Mutation: Clinical Course and Ethical Considerations
pubmed · 42083712
Literaturverweis öffnenCorticosteroids are efficient in treatment of pseudocroup. Meta analysis confirms Swedish therapeutic tradition
pubmed · 11107721
Literaturverweis öffnenType I Thanatophoric Dysplasia: Clinical Outcome in the Absence of Molecular Genetic Confirmation: A Case Report
pubmed · 41869141
Literaturverweis öffnenCase series: Arterial tortuosity syndrome confirmed by homozygous SLC2A10 variants
pubmed · 42253865
Literaturverweis öffnenLaboratory-Acquired Brucella abortus Infection Mimicking Autoimmune Disease: A Case Report with Genomic Confirmation
pubmed · 42198587
Literaturverweis öffnenClinical features of Q fever confirmed by plasma metagenomic next-generation sequencing
pubmed · 42488664
Literaturverweis öffnenKidney outcomes of coenzyme Q10 supplementation in patients with genetically confirmed CoQ10 nephropathy in Japan
pubmed · 42435122
Literaturverweis öffnenContrast enema in suspected post-NEC intestinal strictures without direct stenosis signs: a retrospective study of 191 surgically confirmed cases
pubmed · 42058478
Literaturverweis öffnenLabia Minora Redefined: A Nonpenile Inversion Technique in Gender-affirming Vaginoplasty
pubmed · 41415591
Literaturverweis öffnenRobot-assisted peritoneal flap vaginoplasty in gender-affirming genital reconstruction: a systematic review and single-arm meta-analysis
pubmed · 42319579
Literaturverweis öffnenEarly US Prenatal Diagnosis and Serial Imaging Confirmation of Hydrometrocolpos with Uterine Didelphys and Cloacal Malformation: A Rare Case of Combined Müllerian Duct and Anorectal Anomaly
pubmed · 42046704
Literaturverweis öffnenGnatostomiasis cutánea, primer caso confirmado en Colombia
pubmed · 26844434
Literaturverweis öffnenLaparoscopy-confirmed complete tubal abortion of an ectopic pregnancy with undetectable urine and serum beta-hCG levels
pubmed · 42156106
Literaturverweis öffnenWHIM syndrome in a child without the classic tetrad: a case confirmed by de novo CXCR4 mutation
pubmed · 41629964
Literaturverweis öffnenImpact of Epidural-Related Maternal Fever on Neonatal Outcomes: A Single-Center Retrospective Case-Control Study Excluding Confirmed Histological Chorioamnionitis
pubmed · 42390098
Literaturverweis öffnenInfirmité motrice cérébrale et asphyxie périnatale chez l'enfant né à terme
pubmed · 8745831
Literaturverweis öffnenCongenital Alopecia, Hypoplastic Kidneys, Growth Restriction, Growth Hormone Resistance, and Liver Fibrosis: Confirmation of a New Syndrome Caused by Biallelic Variants in ZPR1
pubmed · 40776660
Literaturverweis öffnenIdentification of POLA1 gene deep intronic mutation confirms diagnosis of X-linked reticulate pigmentary disorder in a Chinese patient
pubmed · 39635787
Literaturverweis öffnenEvaluation of anticoagulation management in patients with suspected heparin-induced thrombocytopenia awaiting diagnosis confirmation
pubmed · 42126779
Literaturverweis öffnenCase Report: Two neonatal cases of genetically confirmed junctional epidermolysis bullosa in a tertiary care center
pubmed · 41948702
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