Disease: Pulmonary hypoplasia familial primary
- A 37-Year-Old Man with Familial Hereditary Hemorrhagic Telangiectasia and Pulmonary Arteriovenous Malformations Presenting with Seizures and a Diagnosis of Brain Abscesses
- A Case of Confounding Back Pain
- A hitherto unreported combination of pulmonary stenosis, single coronary artery anomaly, and coronary sinus to left atrial communication
- A multi-disciplinary, comprehensive approach to management of children with heterotaxy
- A Multimodality Imaging Approach to Defining Risk in Patients With Acute Pulmonary Embolism
- A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease
- A rare case report of tuberculosis endometritis in a private hospital Dar es salaam, Tanzania
- A rare synchronous presentation of double primary malignancies - lung and prostate
- Age-Related Development of Cardiac Remodeling and Dysfunction in Young Black and White Adults: The Coronary Artery Risk Development in Young Adults Study
- An emerging phenotype of pulmonary arterial hypertension patients carrying <em>SOX17</em> variants
- An emerging phenotype of pulmonary arterial hypertension patients carrying SOX17 variants
- An Older Woman With Transient Cough, Mild Airway Obstruction, and Lung Nodules
- Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects
- BK virus-specific T cells for immunotherapy of progressive multifocal leukoencephalopathy: an open-label, single-cohort pilot study
- Case Report: Whole-Exome Sequencing-Based Copy Number Variation Analysis Identified a Novel <em>DRC1</em> Homozygous Exon Deletion in a Patient With Primary Ciliary Dyskinesia
- Case Report: Whole-Exome Sequencing-Based Copy Number Variation Analysis Identified a Novel DRC1 Homozygous Exon Deletion in a Patient With Primary Ciliary Dyskinesia
- Clinical and functional spectrum of RAC2-related immunodeficiency
- Clinical features predicting COVID-19 mortality risk
- Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4
- Clinical-radiological-pathological correlation in pulmonary arterial hypertension
- Clinicopathological Characteristics and Prognosis Analysis of 39 Patients with Pulmonary Sarcomatoid Carcinoma
- Comment on: Nailfold microvascular abnormalities are associated with a higher prevalence of pulmonary arterial hypertension in patients with MCTD
- Computed tomographic findings in TBX4 mutation: a common cause of severe pulmonary artery hypertension in children
- Contemporary Outcomes and Factors Associated With Mortality After a Fetal or Postnatal Diagnosis of Common Arterial Trunk
- Contribution of transient receptor potential canonical channels in human and experimental pulmonary arterial hypertension
- Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population
- COVID-19 vaccines and risks of hematological abnormalities: Nested case-control and self-controlled case series study
- Design and Protocol of the Renal Anhydramnios Fetal Therapy (RAFT) Trial
- Disease-specific platelet signaling defects in idiopathic pulmonary arterial hypertension
- DRC1 deficiency caused primary ciliary dyskinesia and MMAF in a Chinese patient
- Dual-energy CT lung perfusion characteristics in pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD/PCH): preliminary experience in 63 patients
- Endogenous Retroviral Elements Generate Pathologic Neutrophils in Pulmonary Arterial Hypertension
- Epigenetics Mechanism and Therapeutic Potential of Approved Epi-drugs in Pulmonary Hypertension Disease
- Evaluation of Maternal Infection During Pregnancy and Childhood Leukemia Among Offspring in Denmark
- Exercise intolerance in pulmonary arterial hypertension: insight into central and peripheral pathophysiological mechanisms
- Fatty acid metabolism promotes TRPV4 activity in lung microvascular endothelial cells in pulmonary arterial hypertension
- Frequency and Distribution of Chest Radiographic Findings in Patients Positive for COVID-19
- Gait Apraxia with Exaggerated Upper Limb Movements as Presentation of AARS2 Related Leukoencephalopathy
- Gastroenteritis Rehydration Of children with Severe Acute Malnutrition (GASTROSAM): A Phase II Randomised Controlled trial: Trial Protocol
- Genomic and transcriptomic profiling expands precision cancer medicine: the WINTHER trial
- Hereditary hemorrhagic telangiectasia diagnosis: A case report
- How Are Indeterminate Pulmonary Nodules at Diagnosis Associated with Survival in Patients with High-Grade Osteosarcoma?
- Hydroxychloroquine pre-exposure prophylaxis for COVID-19 among healthcare workers: Initial experience from India
- Identification of a novel founder variant in <em>DNAI2</em> cause primary ciliary dyskinesia in five consanguineous families derived from a single tribe descendant of Arabian Peninsula
- Identification of a novel founder variant in DNAI2 cause primary ciliary dyskinesia in five consanguineous families derived from a single tribe descendant of Arabian Peninsula
- Improving community-based care for children with a rare condition: The example of long-segment congenital tracheal stenosis and perceptions of health professionals, parents and teachers
- Inflammation and DKK1-induced AKT activation contribute to endothelial dysfunction following NR2F2 loss
- Initial characteristics and course of disease in patients with suspected COVID-19 managed in general practice: a prospective, multicentre cohort study
- Is Your Kid Actin Out? A Series of Six Patients With Inherited Actin-Related Protein 2/3 Complex Subunit 1B Deficiency and Review of the Literature
- Isolated Pulmonary Arteriovenous Malformations Associated With BMPR2 Pathogenic Variants
- LCAT protects against Lipoprotein-X formation in a murine model of drug-induced intrahepatic cholestasis
- Liver dysfunction in idiopathic pulmonary arterial hypertension: prevalence, characteristics and prognostic significance, a retrospective cohort study in China
- Loss of cAbl Tyrosine Kinase in Pulmonary Arterial Hypertension Causes Dysfunction of Vascular Endothelial Cells
- Mapping the Most Common Founder Variant in <em>RSPH9</em> That Causes Primary Ciliary Dyskinesia in Multiple Consanguineous Families of Bedouin Arabs
- Mapping the Most Common Founder Variant in RSPH9 That Causes Primary Ciliary Dyskinesia in Multiple Consanguineous Families of Bedouin Arabs
- Metabolomic Differences in Connective Tissue Disease-Associated Versus Idiopathic Pulmonary Arterial Hypertension in the PVDOMICS Cohort
- Mortality trends in neonatal ECMO for pulmonary hypoplasia: A review of the Extracorporeal Life Support Organization database from 1981 to 2016
- Mucoepidermoid carcinoma of the lung with hemoptysis as initial symptom: A case report
- Multiple malignant tumors in a patient with familial chordoma, a case report
- Nailfold microvascular abnormalities are associated with a higher prevalence of pulmonary arterial hypertension in patients with MCTD
- New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome
- Novel Compound Heterozygous Variants in <em>CCDC40</em> Associated with Primary Ciliary Dyskinesia and Multiple Morphological Abnormalities of the Sperm Flagella
- Novel Compound Heterozygous Variants in CCDC40 Associated with Primary Ciliary Dyskinesia and Multiple Morphological Abnormalities of the Sperm Flagella
- Novel dominant-negative <em>FOXJ1</em> mutation in a family with heterotaxy plus mouse model
- Novel dominant-negative FOXJ1 mutation in a family with heterotaxy plus mouse model
- Novel pathogenic variants of DNAH5 associated with clinical and genetic spectra of primary ciliary dyskinesia in an Arab population
- Optimal Threshold of Homeostasis Model Assessment of Insulin Resistance to Identify Metabolic Syndrome in a Chinese Population Aged 45 Years or Younger
- Optimizing Screening for Early Disease Detection in Familial Pulmonary Fibrosis (FLORIS): A Prospective Cohort Study Design
- Paraneoplastic Encephalopathy in a Patient With Metastatic Lung Cancer: A Case Study
- Patient factors associated with conveyance decision-making by Emergency Medical Services professionals in patients with a syncope: a cross-sectional factorial survey design
- Pediatric hyperimmunoglobulin E syndrome (Job's syndrome) with STAT3 mutation: A case report
- Peripheral microangiopathy in precapillary pulmonary hypertension: a nailfold video capillaroscopy prospective study
- Point-of-Care Ultrasound Abnormalities in Late-Onset Severe Preeclampsia: Prevalence and Association With Serum Albumin and Brain Natriuretic Peptide
- Primary cardiac dedifferentiated liposarcoma in a middle-aged female: a case report
- Primary Ciliary Dyskinesia Diagnostic Challenges: Understanding the Clinical Phenotype of the Puerto Rican <em>RSPH4A</em> Founder Mutation
- Primary Ciliary Dyskinesia Diagnostic Challenges: Understanding the Clinical Phenotype of the Puerto Rican RSPH4A Founder Mutation
- Primary pulmonary plasmacytoma accompanied by overlap syndrome: A case report and review of the literature
- Primary tracheal carcinoid tumor misdiagnosed as asthma: a rare case report
- Pulmonary arterial hypertension in hereditary hemorrhagic telangiectasia associated with ACVRL1 mutation: a case report
- Pulmonary MALT lymphoma: Imaging findings in 18 cases and the associated pathological correlations
- Retinoblastoma co-repressor 1 (RB) and cyclin-dependent kinase inhibitor (CDKN) as a multi-gene panel for differentiating pulmonary from non-pulmonary origin in metastatic neuroendocrine carcinomas
- Role of the pioneer transcription factor GATA2 in health and disease
- SH2B1 promotes NSCLC cell proliferation through PI3K/Akt/mTOR signaling cascade
- Short stature and combined immunodeficiency associated with mutations in RGS10
- Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum
- Significance of active screening for detection of health problems in childhood cancer survivors
- SLIT3-Fibroblast Signaling as a Potential Anti-fibrotic Target
- SLIT3-mediated fibroblast signaling: a promising target for antifibrotic therapies
- Spirometric abnormalities in patients with sleep-related breathing disorders
- Staged vs Complete Repair in Tetralogy of Fallot With Pulmonary Atresia
- Take a Leap of Faith: Implement Routine Genetic Testing in Your Office
- Targeting Mitochondrial Metabolic Dysfunction in Pulmonary Hypertension: Toward New Therapeutic Approaches?
- The First Case of a Homozygous CCNO NM 021147.4 Mutation Associated With Primary Ciliary Dyskinesia in Two Indian Siblings
- The International Association for the Study of Lung Cancer Early Lung Imaging Confederation
- The plasma viral communities associate with clinical profiles in a large-scale haematological patients cohort
- The Shunt of It
- Title- Genomic landscape of squamous cell carcinoma- Different genetic pathways culminating in a common phenotype
- TOPORS as a novel causal gene for Joubert syndrome
- Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations
- Venous Tone and Stressed Blood Volume in Heart Failure: JACC Review Topic of the Week