Disease: Aase syndrome
- "Microscopic colitis" and collagenous colitis. Unusual explanation of diarrhea of unknown origin
- A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome
- A female patient with "Aase syndrome"
- Aase syndrome
- Aase syndrome: novel radiographic features
- Aase-Smith syndrome
- Aase-Smith syndrome type II
- Aase-Smith syndrome: report of a new case
- Aase-Smith syndrome: report of a new case with unusual features
- Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes
- Arthrogryposis or a new syndrome?
- Arthrogryposis syndrome (Kuskokwim disease) in the Eskimo
- Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: a variant of polyfibromatosis?
- Associations between symptom and neurocognitive dimensions in clinical high risk for psychosis
- Autoantibodies in thymoma-associated myasthenia gravis with myositis or neuromyotonia
- Autosomal dominant transmission of congenital erythroid hypoplastic anemia with radial abnormalities
- Biomarkers of inflammation and axonal degeneration/damage in patients with newly diagnosed multiple sclerosis: contributions of the soluble CD163 CSF/serum ratio to a biomarker panel
- Blackfan-Diamond anemia
- BLACKFAN-DIAMOND ANEMIA
- BLACKFAN-DIAMOND TYPE ANEMIA. ERYTHROGENESIS IMPERFECTA
- Bone marrow transplantation in non-malignant disorders
- Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies
- Case of Blackfan-Diamond anemia; pathogenic considerations and therapeutic attempts
- Children, AIDS and the politics of orphan care in Ethiopia: the extended family revisited
- Chronic congenital aregenerative anemia (pure red-cell anemia) associated with iso-immunization by the blood
- Chronic polyneuropathies in Vest-Agder, Norway
- Chronic polyneuropathy--evaluation and diagnosis
- Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer
- Cognitive predictors of longitudinal positive symptom course in clinical high risk for psychosis
- Comparison of prevalence and mental health problems across symptom frequency of self-reported symptoms of binge-eating disorder in a community sample of adolescents
- Congenital anemia and triphalangeal thumbs: a new syndrome
- CONGENITAL HYPOPLASTIC ANEMIA (BLACKFAN-DIAMOND SYNDROME)
- Congenital hypoplastic anemia in small children (Blackfan-Diamond syndrome)
- CONGENITAL HYPOPLASTIC ERYTHROID ANEMIA IN INFANTS
- Congenital pure red cell anaemia or erythrogenesis imperfecta
- Cortisone therapy in erythrogenesis imperfecta
- Craniometaphyseal dysplasia: operative findings and treatment
- Duplication of distal thumb phalanx in Shwachman-Diamond syndrome
- Dysmorphogenesis of joints, brain, and palate: a new dominantly inherited syndrome
- Dysmorphologic diagnosis for the pediatric practitioner
- EFNS guidelines on the diagnosis and management of European Lyme neuroborreliosis
- Epidemiology of fetal alcohol syndrome among American Indians of the Southwest
- Epigenetics and genomics in Turner syndrome
- Erythrogenesis imperfecta
- Erythrogenesis imperfecta
- Erythrogenesis imperfecta
- Erythrogenesis imperfecta or congenital hypoplastic anaemia (Diamond-Blackfan type)
- Exercise related sudden cardiac death (SCD) in the young - Pre-mortal characterization of a Swedish nationwide cohort, showing a decline in SCD among athletes
- Extended family childcare arrangements in a context of AIDS: collapse or adaptation?
- Ezetimibe Added to Statin Therapy after Acute Coronary Syndromes
- Facial asymmetry and abnormalities of palms and ears: a dominantly inherited developmental syndrome
- Favorable effect of splenectomy over a five year follow-up in a patient with Aase-Smith syndrome
- Fetal akinesia deformation sequence due to a congenital disorder of glycosylation
- Fetal alcohol syndrome in adolescents and adults
- FG syndrome update 1988: note of 5 new patients and bibliography
- Health-related quality of life, anxiety and depression and physical recovery after critical illness - A prospective cohort study
- Heterogeneity of the erythropoietic defect in two cases of Aase-Smith syndrome
- Hospital-diagnosed morbidities and recent surgery as risk factors for developing Guillain-Barré syndrome
- Hypoplastic anemia of early infancy, Blackfan-Diamond anemia
- Hypoplastic anemic in small children; Blackfan-Diamond disease, erythrogenesis imperfecta; chronic anemia with arrested maturation of normoblasts
- Immune aregenerative anemia without erythroblastopenia: a previously undescribed condition
- Impact of PTSD on post-concussive symptoms, neuropsychological functioning, and pain in post-9/11 veterans with mild traumatic brain injury
- Isoelectric focusing is superior to immunofixation electrophoresis in diagnosing CNS inflammation
- Language Lateralization and Auditory Attention Impairment in Young Adults at Ultra-High Risk for Psychosis: A Dichotic Listening Study
- Larsen's syndrome: a skeletal dysplasia with multiple joint dislocations and unusual facies
- Limb anomalies and anemia: Aase-Smith syndrome
- Long-Term Comparison of 7 SARS-CoV-2 Antibody Assays in the North Zealand Covid-19 Cohort
- Microtia--clinical observations
- Multiple dysmorphic features and pancytopenia: a new syndrome?
- Mutation analysis of cases of sudden unexplained death, 15 years after death: prompt genetic evaluation after resuscitation can save future lives
- Myelogram in Blackfan-Diamond hypoplastic anemia of children; two personal cases
- Nosology of fetal hypokinesia sequence based on CNS abnormalities: is there an Aase-Smith syndrome?
- Occurrence of Dandy-Walker anomaly in a familial case of distal arthogryposis type IIB
- One case of torsades de pointes with Aase's syndrome induced by moxifloxacin
- Opportunities for improvement in anti-thrombotic therapy and other strategies for the management of acute coronary syndromes: Insights from EPICOR, an international study of current practice patterns
- Organophosphorus Pesticide Exposure at 17 Weeks' Gestation and Odds of Offspring Attention-Deficit/Hyperactivity Disorder Diagnosis in the Norwegian Mother, Father, and Child Cohort Study
- Possible Relevance of Soluble Luteinizing Hormone Receptor during Development and Adulthood in Boys and Men
- Prenatal diagnosis of Blackfan-Diamond syndrome: case report and review of the literature
- Quetiapine extended release versus aripiprazole in children and adolescents with first-episode psychosis: the multicentre, double-blind, randomised tolerability and efficacy of antipsychotics (TEA) trial
- Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years
- Seven times replacement of permanent cardiac pacemaker in 33 years to maintain adequate heart rate: a case report
- Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival
- Small ears in Down's syndrome: a helpful diagnostic aid
- Small intestinal malabsorption in chronic alcoholism determined by 13C-D-xylose breath test and microscopic examination of the duodenal mucosa
- Structural abnormalities of the craniofacial complex and congenital malformations
- The 4p- syndrome. A clinically recognizable chromosomal deletion syndrome
- The Aase syndrome in a female infant
- The Aase syndrome: hereditary autosomal recessive congenital erythropoiesis insufficiency and triphalangeal thumbs
- The Aase syndrome. Case report and review of the literature
- The Aase-Smith syndrome
- The Cronkhite-Canada syndrome. Case report
- The fetal alcohol syndrome in American Indians: a high risk group
- The Prevalence of Pathogenic or Likely Pathogenic Germline Variants in a Nationwide Cohort of Young Colorectal Cancer Patients Using a Panel of 18 Genes Associated with Colorectal Cancer
- The TGFβ system and TIMP1 and 3 genotypes in Turner syndrome-Relation with aortic congenital malformations
- Thrombin-receptor antagonist vorapaxar in acute coronary syndromes
- Treatment with senicapoc in a porcine model of acute respiratory distress syndrome
- Veterans residing in self-governed recovery homes for substance abuse: sociodemographic and psychiatric characteristics
- Visual diagnosis: multiple joint contractures in a male newborn