• "Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes
• A case report of Teschler-Nicola/Killian syndrome
• A further report on a case of Floating-Harbor Syndrome in a mother and daughter
• A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, cataracts, mental retardation, and brachycephaly without craniosynostosis
• Adult male with abdominal distention
• Association of enamel-renal syndrome with sialolith: A rare entity
• Atypical fetal hydantoin syndrome
• Cat-eye syndrome with different marker chromosomes in a mother and daughter
• Cataracts and testicular failure in three brothers
• Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21
• Chronic renal failure and XY gonadal dysgenesis: "Frasier" syndrome--a commentary on reported cases
• Clinical characteristics and genetic analysis of an ethnic Han Chinese child with Keppen-Lubinsky syndrome due to a de novo KCNJ6 mutation
• Corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth: a new autosomal dominant syndrome
• Craniofacial and CNS anomalies with body asymmetry, severe retardation, and other malformations
• Developmental field defects and associations: epidemiological evidence of their relationship
• DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q)
• Effective treatment of erythema nodosum leprosum with thalidomide is associated with immune stimulation
• Embryonic hypocellularity, blastogenetic malformations, and fetal growth restriction
• Enamel renal syndrome: a rare case report
• Expanding the spectrum of KCNJ6-related disorders: Milder phenotype with pathological startle responses
• Explaining certain human limb anomalies and the limb-hematopoiesis community of syndromes using a model of determination
• Familial amniotic bands
• Familial amniotic bands
• Familial Prader-Willi syndrome with apparently normal chromosomes
• Female pseudohermaphroditism and associated anomalies
• Fetal manifestation of the Fine-Lubinsky syndrome. Brachycephaly, deafness, cataract, microstomia and mental retardation syndrome complicated by Pierre-Robin anomaly and polyhydramnios
• Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation
• Fine-Lubinsky syndrome: managing the rare syndromic synostosis
• Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance
• Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome
• Further clinical delineation of Fine-Lubinsky syndrome
• Further delineation of the 10p deletion syndrome
• Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype
• Genitopatellar syndrome: expanding the phenotype
• Heart Failure in a Young Adult with a Fine-Lubinsky Syndrome: An Unknown Comorbidity
• Johanson-Blizzard syndrome with normal intelligence
• Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6
• Keppen-Lubinsky syndrome: Expanding the phenotype
• Letter: Autosomal-dominant sex-dependent transmission of the Wiedemann-Beckwith syndrome
• Making extra teeth: Lessons from a TRPS1 mutation
• Periodontal disease and FAM20A mutations
• Primary midline developmental field. II. Clinical/epidemiological analysis of alteration of laterality (normal body symmetry and asymmetry)
• Properties of associations: identity, nature, and clinical criteria, with a commentary on why CHARGE and Goldenhar are not associations
• Quality of colonoscopy in Lynch syndrome
• Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome
• Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations
• Sir A. E. Garrod, congenital heart disease in Down syndrome, and the doctrine of fetal endocarditis
• Studies of malformation syndromes of man XXIX: the Wiedemann-Beckwith syndrome. Clinical, genetic and pathogenetic studies of 12 cases
• Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolism
• Syndromes with supernumerary teeth
• The association of "prune belly" with Turner's syndrome
• The FG syndrome: further characterization, report of a third family, and of a sporadic case
• The syndrome as finding or as cause: suggested terminology
• Toriello-Carey syndrome: delineation and review
• Transient fetal hydrops and "prune belly" in one identical female twin
• Unusual appearance in a child. When and how to search for a possible syndrome
• Urticaria pigmentosa and Nager syndrome
• von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies