Author/Creator: Steijlen, Peter M. - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Steijlen, Peter M.

1. A novel mutation in SLURP1 in patients with mal de Meleda from the Indian subcontinent. Issue 1 (October 2015)

Authors:: Nellen, Ruud G.L.; Claessens, Tijs; Subramaniam, Ranugha; Betkerur, Jayadev; Prashanth, Akila; Steijlen, Peter M.; Geel, Michel van
Journal:: Journal of dermatological science
Issue:: Volume 80:Issue 1(2015:Oct.)
Page Start:: 76
Record Type:: Journal Article
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2. Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey–Hailey Disease. Issue 4 (15th February 2017)

Authors:: Nellen, Ruud G.L.; Steijlen, Peter M.; van Steensel, Maurice A.M.; Vreeburg, Maaike; Frank, Jorge; van Geel, Michel
Journal:: Human mutation
Issue:: Volume 38:Issue 4(2017)
Page Start:: 343
Record Type:: Journal Article
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3. New mutations and an updated database for the patched‐1 (PTCH1) gene. Issue 3 (25th March 2018)

Authors:: Reinders, Marie G.; van Hout, Antonius F.; Cosgun, Betûl; Paulussen, Aimée D.; Leter, Edward M.; Steijlen, Peter M.; Mosterd, Klara; van Geel, Michel; Gille, Johan J.
Journal:: Molecular genetics & genomic medicine
Issue:: Volume 6:Issue 3(2018)
Page Start:: 409
Record Type:: Journal Article
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4. Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1. Issue 11 (21st August 2015)

Authors:: Nellen, Ruud G. L.; Nagtzaam, Ivo F.; Hoogeboom, A. Jeannette M.; Bladergroen, Reno S.; Jonkman, Marcel F.; Steijlen, Peter M.; van Steensel, Maurice A. M.; van Geel, Michel
Journal:: Experimental dermatology
Issue:: Volume 24:Issue 11(2015:Nov.)
Page Start:: 883
Record Type:: Journal Article
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5. Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum. Issue 1 (25th March 2020)

Authors:: Staps, Pippa; van Gaalen, Judith; van Domburg, Peter.; Steijlen, Peter M.; Ferdinandusse, Sacha; den Heijer, Tom; Seyger, Marieke M. B.; Theelen, Thomas; Willemsen, Michèl A. A. P.
Journal:: JIMD reports
Issue:: Volume 53:Issue 1(2020)
Page Start:: 61
Record Type:: Journal Article
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6. STS pathogenic variants in a Dutch patient cohort clinically suspected for X‐linked ichthyosis show genetic heterogeneity. (11th August 2022)

Authors:: Nagtzaam, Ivo F.; van Leersum, Frank S.; Kouwenberg, Laurie C.M.; Blok, Marinus J.; Vreeburg, Maaike; Steijlen, Peter M.; Gostyński, Antoni; van Geel, Michel
Journal:: British journal of dermatology
Issue:: Volume 187:Number 5(2022)
Page Start:: 820
Record Type:: Journal Article
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7. STS pathogenic variants in a Dutch patient cohort clinically suspected for X‐linked ichthyosis show genetic heterogeneity. (1st November 2022)

Authors:: Nagtzaam, Ivo F.; van Leersum, Frank S.; Kouwenberg, Laurie C.M.; Blok, Marinus J.; Vreeburg, Maaike; Steijlen, Peter M.; Gostyński, Antoni; van Geel, Michel
Journal:: British journal of dermatology
Issue:: Volume 187:Number 5(2022)
Page Start:: 820
Record Type:: Journal Article
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