(en) Andrew J Finch, Christine Hilcenko, Nicolas Basse, Lesley F Drynan, Alan J Warren et al., « Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome », Genes & development, vol. 25, no 9, , p. 917-929. (ISSN1549-5477, PMID21536732, DOI10.1101/gad.623011, lire en ligne, consulté le )
doi.org
dx.doi.org
(en) Graeme R. B. Boocock, Jodi A. Morrison, Maja Popovic, Nicole Richards, Lynda Ellis, Peter R. Durie, Johanna M. Rommens, « Mutations in SBDS are associated with Shwachman–Diamond syndrome », Nature Genetics, vol. 33, no 1, , p. 97-101 (ISSN1546-1718, PMID12496757, DOI10.1038/ng1062, lire en ligne, consulté le )
(en) Elizabeth N Kerr, Lynda Ellis, Annie Dupuis, Johanna M Rommens, Peter R Durie, « The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function », The Journal of pediatrics, vol. 156, no 3, , p. 433-438. (ISSN1097-6833, PMID19906387, DOI10.1016/j.jpeds.2009.09.026, lire en ligne, consulté le )
(en) Andrew J Finch, Christine Hilcenko, Nicolas Basse, Lesley F Drynan, Alan J Warren et al., « Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome », Genes & development, vol. 25, no 9, , p. 917-929. (ISSN1549-5477, PMID21536732, DOI10.1101/gad.623011, lire en ligne, consulté le )
issn.org
portal.issn.org
C Nezelof, M Watchi, « [Lipomatous congenital hypoplasia of the exocrine pancreas in children. (2 cases and review of the literature)] L'hypoplasie congénitale lipomateuse du pancréas du pancréas exocrine chez l'enfant (2 observations et revue de la littérature) », Archives françaises de pédiatrie, vol. 18, , p. 1135-1172 (ISSN0003-9764, PMID14479383)
(en) H Shwachman, L K Diamond, F A Oski, K T Khaw, « The Syndrome of Pancreatic Insufficiency And Bone Marrow Dysfunction », The Journal of pediatrics, vol. 65, , p. 645-663 (ISSN0022-3476, PMID14221166)
(en) Graeme R. B. Boocock, Jodi A. Morrison, Maja Popovic, Nicole Richards, Lynda Ellis, Peter R. Durie, Johanna M. Rommens, « Mutations in SBDS are associated with Shwachman–Diamond syndrome », Nature Genetics, vol. 33, no 1, , p. 97-101 (ISSN1546-1718, PMID12496757, DOI10.1038/ng1062, lire en ligne, consulté le )
(en) Elizabeth N Kerr, Lynda Ellis, Annie Dupuis, Johanna M Rommens, Peter R Durie, « The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function », The Journal of pediatrics, vol. 156, no 3, , p. 433-438. (ISSN1097-6833, PMID19906387, DOI10.1016/j.jpeds.2009.09.026, lire en ligne, consulté le )
(en) Andrew J Finch, Christine Hilcenko, Nicolas Basse, Lesley F Drynan, Alan J Warren et al., « Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome », Genes & development, vol. 25, no 9, , p. 917-929. (ISSN1549-5477, PMID21536732, DOI10.1101/gad.623011, lire en ligne, consulté le )
jpeds.com
(en) Elizabeth N Kerr, Lynda Ellis, Annie Dupuis, Johanna M Rommens, Peter R Durie, « The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function », The Journal of pediatrics, vol. 156, no 3, , p. 433-438. (ISSN1097-6833, PMID19906387, DOI10.1016/j.jpeds.2009.09.026, lire en ligne, consulté le )
nature.com
(en) Graeme R. B. Boocock, Jodi A. Morrison, Maja Popovic, Nicole Richards, Lynda Ellis, Peter R. Durie, Johanna M. Rommens, « Mutations in SBDS are associated with Shwachman–Diamond syndrome », Nature Genetics, vol. 33, no 1, , p. 97-101 (ISSN1546-1718, PMID12496757, DOI10.1038/ng1062, lire en ligne, consulté le )
neutropenie.fr
« Accueil », sur Neutropenie chroniques, (consulté le )
nih.gov
ncbi.nlm.nih.gov
C Nezelof, M Watchi, « [Lipomatous congenital hypoplasia of the exocrine pancreas in children. (2 cases and review of the literature)] L'hypoplasie congénitale lipomateuse du pancréas du pancréas exocrine chez l'enfant (2 observations et revue de la littérature) », Archives françaises de pédiatrie, vol. 18, , p. 1135-1172 (ISSN0003-9764, PMID14479383)
(en) H Shwachman, L K Diamond, F A Oski, K T Khaw, « The Syndrome of Pancreatic Insufficiency And Bone Marrow Dysfunction », The Journal of pediatrics, vol. 65, , p. 645-663 (ISSN0022-3476, PMID14221166)
(en) Graeme R. B. Boocock, Jodi A. Morrison, Maja Popovic, Nicole Richards, Lynda Ellis, Peter R. Durie, Johanna M. Rommens, « Mutations in SBDS are associated with Shwachman–Diamond syndrome », Nature Genetics, vol. 33, no 1, , p. 97-101 (ISSN1546-1718, PMID12496757, DOI10.1038/ng1062, lire en ligne, consulté le )
(en) Elizabeth N Kerr, Lynda Ellis, Annie Dupuis, Johanna M Rommens, Peter R Durie, « The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function », The Journal of pediatrics, vol. 156, no 3, , p. 433-438. (ISSN1097-6833, PMID19906387, DOI10.1016/j.jpeds.2009.09.026, lire en ligne, consulté le )
(en) Andrew J Finch, Christine Hilcenko, Nicolas Basse, Lesley F Drynan, Alan J Warren et al., « Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome », Genes & development, vol. 25, no 9, , p. 917-929. (ISSN1549-5477, PMID21536732, DOI10.1101/gad.623011, lire en ligne, consulté le )