- ... related-topic >Growth Disorders</related-topic><see-reference >Achondroplasia</see-reference><site ><information-category >Genetics</information-category><organization >National ...
- ... gov Catalog of Genes and Diseases from OMIM ACHONDROPLASIA; ACH Scientific Articles on PubMed PubMed References Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet. ...
- ... NORD) Catalog of Genes and Diseases from OMIM ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS; SADDAN Scientific Articles on PubMed PubMed References Bellus GA, Bamshad MJ, Przylepa KA, Dorst J, ...
- NLM Digital Collections - Index-catalogue of the Library of the Surgeon-General's Office, United States Army. Authors ...Publication: Washington : G.P.O., 1880-1932... by thefcetus in utero during pregnancy; with special reference to achondroplasia (chondrodystro- phiafcetalis). Edinb. M. J., 1913, n. s., x, ...
- ... National Library of Medicine) Clinical Trials ClinicalTrials.gov: Achondroplasia (National Institutes of Health) ClinicalTrials.gov: Dwarfism (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
- NLM Digital Collections - Endocrine diseases : including their diagnosis and treatmentPublication: Philadelphia : P. Blakiston's Son & Co., [1923]... a book to work out these principles. (See references below.) He brings achondroplasia into relationship with dysostosis cleido- cranialis and with ... Feebleness of growth and congenital dwarfism, with special reference to ... Jansen {M.). Achondroplasia, its nature and cause, etc. Leiden, Brill, 1912. ...
- ... posted live 26 June 1998 (cf) Original submission References Literature Cited Ain MC, Browne JA. Spinal arthrodesis with instrumentation for thoracolumbar kyphosis in pediatric achondroplasia. Spine. 2004; 29 :2075–80. [ PubMed : 15371713 ] Akyol ...
- ... 99% of persons w/TD type II Severe achondroplasia w/developmental delay & acanthosis nigricans (SADDAN) syndrome (OMIM 616482 ) AD c.1949A>T (p.Lys650Met) AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance 1. Reference sequences: NM_000142 .5 ; NP_000133 .1 Differential ...
- ... Sequences DNA Nucleotide Change Predicted Protein Change Comment [Reference] NM_000142 .4 NP_000133 .1 c.829A>G p.Tyr278Cys Phenotype resembles achondroplasia in newborns [ Heuertz et al 2006 , Song et ...
- NLM Digital Collections - The prognosis of internal diseasesPublication: New York : D. Appleton and Company, 1923... de Paris, 1895, Ixx, 772-775. Jansen (M.). Achondroplasia. (Monograph), 1912. Ztschr.f. orthop. Chir. Stuttgart, 1913, xxxii, 1-114. Virchow. Cellular pathol. Berlin, 1858-1862. Krankhafte Geschw., Berlin, 1863-1867. References 7. Osteomalacia (Mollifies ossium) The loss of lime ...
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