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BMJ Open, ISSN 2044-6055, 01/2019, Volume 9, Issue 1, pp. e022617 - e022617
ObjectivesShwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder. Its predominant manifestations include exocrine pancreatic insufficiency,... 
growth charts | Shwachman-diamond syndrome | genetics | Body mass index | Genetic disorders | Cognitive ability | Bone marrow | Software | Down syndrome | Mutation | Patients | Age
Journal Article
Journal Article
Obstetrical & Gynecological Survey, ISSN 0029-7828, 07/2011, Volume 66, Issue 7, pp. 406 - 407
A Consensus Statement (Genetic Testing for Cystic Fibrosis, NIH Consensus Statement, 1997) concluded that carrier testing for cystic fibrosis (CF) should be... 
Journal Article
Psicologia Clinica dello Sviluppo, ISSN 1824-078X, 12/2000, Volume 4, Issue 3, pp. 490 - 497
Journal Article
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