• 7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype
• A Boolean network model of the double-strand break repair pathway choice
• A Case-Control of Patients with COVID-19 to Explore the Association of Previous Hospitalisation Use of Medication on the Mortality of COVID-19 Disease: A Propensity Score Matching Analysis
• A cautionary response to SMFM statement: pharmacological treatment of gestational diabetes
• A combination of hydroxytyrosol, omega-3 fatty acids and curcumin improves pain and inflammation among early stage breast cancer patients receiving adjuvant hormonal therapy: results of a pilot study
• A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes
• A neonatal nonhuman primate model of gestational Zika virus infection with evidence of microencephaly, seizures and cardiomyopathy
• A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome
• Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations
• Alagille Syndrome
• Anophthalmia, Global Developmental Delay, and Severe Dysphagia in a Young Girl With 14q22q23 Microdeletion Syndrome
• Antero-cervical thermophysiological characterization of obstructive sleep apnea patients
• Association of family risk and lifestyle/comorbidities in ovarian cancer patients
• Betacoronaviruses genome analysis reveals evolution toward specific codons usage: Implications for SARS-CoV-2 mitigation strategies
• Beyond weakness: Characterization of pain, sensory profile and conditioned pain modulation in patients with motor neuron disease: A controlled study
• Cauda equina syndrome following combined spinal-epidural anesthesia with levobupivacaine for cesarean section
• Changes in Visceral and Ectopic Adipose Tissue Stores Across Pregnancy and Their Relationship to Gestational Weight Gain
• Chromosome Instability in Fanconi Anemia: From Breaks to Phenotypic Consequences
• Clinical and genetic complexity of Mitchell-Riley/Martinez-Frias syndrome
• Cohort profile: the ESC EURObservational Research Programme Non-ST-segment elevation myocardial infraction (NSTEMI) Registry
• Congenital alacrima in a patient with G (Opitz Frias) syndrome
• Cushing syndrome in a HIV patient using inhaled steroids. Report of one case
• David Weyhe Smith, MD (1926-1981)--The Father of Dysmorphology
• Death following pulmonary complications of surgery before and during the SARS-CoV-2 pandemic
• Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics
• Discovering HIV related information by means of association rules and machine learning
• Dissecting neuropathic from poststroke pain: the white matter within
• DNA Damage as a Driver for Growth Delay: Chromosome Instability Syndromes with Intrauterine Growth Retardation
• Dry needling has lasting analgesic effect in shoulder pain: a double-blind, sham-controlled trial
• Effect of ultra-processed food intake on metabolic syndrome components and body fat in children and adolescents: A systematic review based on cohort studies
• Effects of early daily alcohol exposure on placental function and fetal growth in a rhesus macaque model
• Efficacy and Safety of NVX-CoV2373 in Adults in the United States and Mexico
• Efficacy and Safety of the Adjuvant Use of Probiotic Bacillus clausii Strains in Pediatric Irritable Bowel Syndrome: A Randomized, Double-Blind, Placebo-Controlled Study
• Elective Cancer Surgery in COVID-19-Free Surgical Pathways During the SARS-CoV-2 Pandemic: An International, Multicenter, Comparative Cohort Study
• Eosinophilic drug reactions detected by a prospective pharmacovigilance programme in a tertiary hospital
• Esophagocardioplasty, vagotomy-antrectomy and Roux-en-Y gastrojejunostomy: indication in cases with severe esophageal motor disfunction
• Extracorporeal CO₂ removal and renal replacement therapy in acute severe respiratory failure in COVID-19 pneumonia: Case report
• Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability
• Fanconi anemia cells with unrepaired DNA damage activate components of the checkpoint recovery process
• Fetal alcohol syndrome among children aged 7-9 years - Arizona, Colorado, and New York, 2010
• First known person-to-person transmission of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in the USA
• First multivisceral transplantation in Mitchell-Riley/Martinez-Frias syndrome
• G syndrome: a review of the literature and a case report
• Growth deficiency, facial anomalies, and brachydactyly (Frias syndrome): a second family
• H-type tracheoesophageal fistula with type III laryngotracheoesophageal cleft
• Haploinsufficiency of BMP4 gene may be the underlying cause of Frias syndrome
• Hereditary diffuse gastric cancer - pathophysiology and clinical management
• In Reference to Fanconi Anemia and Laron Syndrome
• Inborn errors of immunity and immunodeficiencies: Antibody-mediated pathology and autoimmunity as a consequence of impaired immune reactions
• Increased risk of MAFLD and Liver Fibrosis in Inflammatory Bowel Disease Independent of Classic Metabolic Risk Factors
• Individual contributions of Savinase and Lactobacillus plantarum to lentil functionalization during alkaline pH-controlled fermentation
• Inhibition of TGFβ1 and TGFβ3 promotes hematopoiesis in Fanconi anemia
• Insularity determines nestling sex ratio variation in Egyptian vulture populations
• Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martinez-Frias syndrome
• Kinesin-Binding Protein Controls Microtubule Dynamics and Cargo Trafficking by Regulating Kinesin Motor Activity
• Longitudinal cognitive trajectories and associated clinical variables in youth with bipolar disorder
• Longitudinal SARS-CoV-2 mRNA Vaccine-Induced Humoral Immune Responses in Patients with Cancer
• Low bone mineral density and renal malformation in Mexican patients with Turner syndrome are associated with single nucleotide variants in vitamin D-metabolism genes
• Maternal azithromycin therapy for Ureaplasma parvum intraamniotic infection improves fetal hemodynamics in a nonhuman primate model
• Maternal High-Fat Diet Consumption and Chronic Hyperandrogenemia Are Associated With Placental Dysfunction in Female Rhesus Macaques
• Metabolic Syndrome: Major Risk Factor for Morbidity and Mortality in Severely Injured Trauma Patients
• Methods for surveillance of fetal alcohol syndrome: The Fetal Alcohol Syndrome Surveillance Network II (FASSNetII) - Arizona, Colorado, New York, 2009 - 2014
• Microtia-atresia: clinical, genetic and genomic aspects
• Moss-Produced, Glycosylation-Optimized Human Factor H for Therapeutic Application in Complement Disorders
• mTOR Regulates Endocytosis and Nutrient Transport in Proximal Tubular Cells
• Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn
• Neonatal Lupus Erythematosus
• Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review
• NUP133 Controls Nuclear Pore Assembly, Transcriptome Composition, and Cytoskeleton Regulation in Podocytes
• Parallel definition of tear film maps on distributed-memory clusters for the support of dry eye diagnosis
• Parallel improvement in anxiety and tics after DBS for medically intractable Tourette syndrome: A long-term follow-up
• PASH syndrome associated with osteopoikilosis
• Perforating dermatosis associated with multikinase inhibitors: report of two cases, including one associated with lenvatinib
• pH-controlled fermentation in mild alkaline conditions enhances bioactive compounds and functional features of lentil to ameliorate metabolic disturbances
• Pilot-scale produced fermented lentil protects against t-BHP-triggered oxidative stress by activation of Nrf2 dependent on SAPK/JNK phosphorylation
• Polycystic ovary syndrome and obesity: clinical aspects and nutritional management
• Preservation of the native spleen in multivisceral transplantation
• Prior Treatment with Statins is Associated with Improved Outcomes of Patients with COVID-19: Data from the SEMI-COVID-19 Registry
• Pulmonary arterial hypertension: Basic knowledge for clinicians
• Rating Scales for Pain in Parkinson's Disease: Critique and Recommendations
• Rhabdomyolysis as the presentation form of COVID-19 infection. Report of one case
• Scimitar Syndrome
• Self-Enriching Electrospun Biosensors for Impedimetric Sensing of Zika Virus
• Serological response to vaccination in post-acute sequelae of COVID
• Severe manifestations of SARS-CoV-2 in children and adolescents: from COVID-19 pneumonia to multisystem inflammatory syndrome: a multicentre study in pediatric intensive care units in Spain
• Significant HLA class I type associations with aromatic antiepileptic drug (AED)-induced SJS/TEN are different from those found for the same AED-induced DRESS in the Spanish population
• Strongyloides stercoralis hyperinfection: an unusual cause of gastrointestinal bleeding
• Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation
• The G syndrome/Opitz oculo-genital-laryngeal syndrome/Opitz BBB/G syndrome/Opitz-Frias syndrome
• The Integrated Stress Response: A Central Memory Switch in Down Syndrome
• The T-Cell Response to SARS-CoV-2 Vaccination in Inflammatory Bowel Disease is Augmented with Anti-TNF Therapy
• Towards Drug Repurposing in Cancer Cachexia: Potential Targets and Candidates
• Trilogy of foregut atresia without genetic abnormality: exception to the Martinez-Frias syndrome
• Twelve-Month Follow-up of Early COVID-19 Cases in the United States: Cellular and Humoral Immune Longevity
• Using an Emergency Department Syndromic Surveillance System to Evaluate Reporting of Potential Rabies Exposures, Illinois, 2013-2015
• Value of MRI and MRS fat measurements to complement conventional screening methods for childhood obesity
• What is this chocolate milk in my circuit? A cause of acute clotting of a continuous renal replacement circuit: Answers
• What is this chocolate milk in my circuit? A cause of acute clotting of a continuous renal replacement circuit: Questions
• WIP1 Contributes to the Adaptation of Fanconi Anemia Cells to DNA Damage as Determined by the Regulatory Network of the Fanconi Anemia and Checkpoint Recovery Pathways
• Zika virus infection in pregnant rhesus macaques causes placental dysfunction and immunopathology