Last Posted: Oct 27, 2016
- Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders.
Drury Suzanne et al. Advances in experimental medicine and biology 2016 92471-75
- Apert and Crouzon syndromes-cognitive development, brain abnormalities, and molecular aspects.
Fernandes Marilyse B L, et al. American journal of medical genetics. Part A 2016 3
- Methylenetetrahydrofolate reductase C677T variant in Indian children with craniosynostosis: Its role in the pathogenesis, risk of craniosynostosis.
Pandey Rajeev Kumar, et al. Indian journal of human genetics 2014 4 (2) 155-9
- Mutations in the FGFR2 gene in Mexican patients with Apert syndrome.
Ibarra-Arce A, et al. Genetics and molecular research : GMR 2015 0 (1) 2341-6
- Skull base morphology in fibroblast growth factor receptor type 2-related faciocraniosynostosis: a descriptive analysis.
Coll Guillaume, et al. Neurosurgery 2015 5 (5) 571-83; discussion 583
- Frequency of activating mutations in FGFR2 exon 7 in bladder tumors from patients with early-onset and regular-onset disease.
Spiegelberg Christine, et al. International journal of clinical and experimental pathology 2014 0 (4) 1708-13
- Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
Nur Banu G, et al. Pediatric neurology 2014 5 (5) 482-90
- Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population.
Pandey Rajeev Kumar, et al. Indian journal of human genetics 2013 10 (4) 449-53
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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