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13 in total

1. Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.

Authors: S Goobie; M Popovic; J Morrison; L Ellis; H Ginzberg; G R Boocock; N Ehtesham; C Bétard; C G Brewer; N M Roslin; T J Hudson; K Morgan; T M Fujiwara; P R Durie; J M Rommens
Journal: Am J Hum Genet Date: 2001-03-15 Impact factor: 11.025

2. Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance.

Authors: H Ginzberg; J Shin; L Ellis; S Goobie; J Morrison; M Corey; P R Durie; J M Rommens
Journal: Am J Hum Genet Date: 2000-03-14 Impact factor: 11.025

Review 3. International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors: J Spranger
Journal: Eur J Pediatr Date: 1992-06 Impact factor: 3.183

4. Shwachman's syndrome and leukaemia.

Authors: J Caselitz; G Klöppel; G Delling; R Grüttner; U Holdhoff; M Stern
Journal: Virchows Arch A Pathol Anat Histol Date: 1979-12

5. A rare case: Shwachman-Diamond syndrome presenting with diabetic ketoacidosis.

Authors: M Fatih Akdogan; Mustafa Altay; Nazim Denizli; Murat Gucun; Seher Tanrikulu; Murat Duranay
Journal: Endocrine Date: 2011-08 Impact factor: 3.633

Review 6. Shwachman-Bodian-Diamond syndrome: metaphyseal chondrodysplasia in children with pancreatic insufficiency and neutropenia.

Authors: Terry L Levin; Outi Mäkitie; Walter E Berdon; Ralph S Lachman
Journal: Pediatr Radiol Date: 2014-11-23

7. Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome.

Authors: Kasiani C Myers; Susan R Rose; Meilan M Rutter; Parinda A Mehta; Jane C Khoury; Theresa Cole; Richard E Harris
Journal: J Pediatr Date: 2013-01-08 Impact factor: 4.406

8. Metaphyseal chondrodysplasia with dwarfism, pancreatic insufficiency and neutropenia.

Authors: P Stanley; J Sutcliffe
Journal: Pediatr Radiol Date: 1973-07

9. Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy.

Authors: M Karjoo; C E Koop; D Cornfeld; P G Holtzapple
Journal: Arch Dis Child Date: 1973-02 Impact factor: 3.791

10. Metaphyseal chondrodysplasia, neutropenia, and pancreatic insufficiency presenting with respiratory distress in the neonatal period.

Authors: D M Danks; R Haslam; V Mayne; H J Kaufmann; P G Holtzapple
Journal: Arch Dis Child Date: 1976-09 Impact factor: 3.791