• <em>NSDHL</em>-Related Disorders
• A new percutaneous pulmonary valve implantation technique for complex right ventricular outflow tracts: the "folded melody valve"
• A survey of congenital heart disease and other organic malformations associated with different types of orofacial clefts in Eastern China
• Anaesthetic implications of Robinow syndrome
• Antisense targeting of engrailed-1 causes abnormal axis formation in mouse embryos
• AP-2β is a transcriptional regulator for determination of digit length in tetrapods
• Appraisal of resection and end-to-end anastomosis for repair of coarctation of the aorta in infancy: preference for resection
• Atrial septal defect associated with Albright's hereditary osteodystrophy and other anomalies: a clinical case
• Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism
• Body stalk anomaly presenting as an emergency in Ethiopia: a case report
• Congenital NAD Deficiency Disorder
• Crim1KST264/KST264 mice display a disruption of the Crim1 gene resulting in perinatal lethality with defects in multiple organ systems
• Cumming syndrome: report of two additional cases
• Defining Features of the Upper Extremity in Holt-Oram Syndrome
• Differences in muscle blood flow in upper and lower extremities of patients after correction of coarctation of the aorta
• Disproportionate growth of the lower extremities. A major determinant of short stature in Turner's syndrome
• Effect of selenium and mercury on gross morphology and histopathology of chick embryos
• Electrophysiological diagnosis of participation of accessory pathway in patients with paroxysmal supraventricular tachycardia
• Ellis van Creveld. Case report
• Embryonic retinoic acid synthesis is essential for early mouse post-implantation development
• Exercise test in detecting anomalous behaviour of blood pressure in patients successfully operated on for coarctation of the aorta
• Exposure-disease continuum for 2-chloro-2'-deoxyadenosine (2-CdA), a prototype teratogen: induction of lumbar hernia in the rat and species comparison for the teratogenic responses
• Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt-Oram syndrome
• Fibula dimelia in association with ipsilateral proximal focal femoral deficiency, tibial deficiency, and polydactyly. A case report
• Genetic interaction between pku300 and fbn2b controls endocardial cell proliferation and valve development in zebrafish
• Holt-Oram syndrome with aortopulmonary window--a rare association
• Ilizarov distraction and vascularized fibular osteocutaneous graft for postosteomyelitis skeletal deformity of the forearm
• Incidence and risk factors of unplanned intubation during pediatric sedation for MRI
• Integrative role of the SALL4 gene: From thalidomide embryopathy to genetic defects of the upper limb, internal organs, cerebral midline, and pituitary
• Late effects on the left upper limb of subclavian flap aortoplasty
• Left upper limb shortening following reverse flap subclavian artery angioplasty
• LIMB LENGH SHORTENING AFTER ARTERIAL CANNULATION IN INFANCY
• Long-Term Outcome of WHIM Syndrome in 18 Patients: High Risk of Lung Disease and HPV-Related Malignancies
• Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val
• New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies
• New roles of SHOX as regulator of target genes
• Nicorandil suppresses a hump on the monophasic action potential and torsade de pointes in a patient with idiopathic long QT syndrome
• Phenotypic Variation in Patients with Homozygous c.1678G&gt;T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome
• Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome?
• Preload, afterload, and the role of afterload mismatch in the descending limb of cardiac function
• Prenatal diagnosis of Holt-Oram syndrome: role of 3-D ultrasonography
• Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis
• Prevalence and prognosis of electrocardiographic findings in middle-aged men
• Prevalence and trend analysis of severe multiple disabling birth defects in Chongqing City from 2007 to 2020
• Proximal femoral focal deficiency associated with fibular duplication and diplopodia and complete agenesis of the tibia: a case report
• Radiological signs of Leri-Weill dyschondrosteosis in Turner syndrome
• Reference tables with centiles of limb to body height ratios of healthy human adults for assessing potential thalidomide embryopathy
• Serial changes in QT interval during acute myocardial infarction: comparison of QT interval changes of reperfused cases and non-reperfused cases
• Shortened outflow tract leads to altered cardiac looping after neural crest ablation
• Smad4 deficiency impairs chondrocyte hypertrophy via the Runx2 transcription factor in mouse skeletal development
• Small terminal 10q26 deletion in a male patient with Noonan-like stigmata: diagnosis by cytogenetic and FISH analysis
• Surgical treatment of fusiform thoracoabdominal aortic aneurysm with Marfan's syndrome. A report on reconstruction of 4 major abdominal visceral branches
• The "heart-hand" syndrome in a 8-year-old-boy with short stature
• The association between Turner's syndrome and juvenile rheumatoid arthritis
• The pattern of shortening of the bones of the hand in PHP and PPHP--A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis
• The use of a circulatory assistance device during replacement of descending aorta to treat chronic aortic dissection; report of a case
• Thrombocytopenia with absent radius (TAR)
• Trisomy 17 in a baboon (Papio hamadryas) with polydactyly, patent foramen ovale and pyelectasis
• TU alternans, long QTU, and torsade de pointes: clinical and experimental observations
• Turner's phenotype in a male with deficit of ACTH and gonadotropins (author's transl)
• Two brothers with heart defects and limb shortening: case reports and review
• Ultrasonographic screening for the Down syndrome fetus
• Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome
• Use of topical haemostatic agents in cardiovascular surgery