Author/Creator: Pinner, J. - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Pinner, J.

1. Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome. (23rd September 2013)

Authors:: Schrauwen, I.; Sommen, M.; Claes, C.; Pinner, J.; Flaherty, M.; Collins, F.; Van Camp, G.
Journal:: Clinical genetics
Issue:: Volume 86:Number 3(2014:Sep.)
Page Start:: 282
Record Type:: Journal Article
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2. Caudal regression syndrome in a fetus of a glucokinase‐maturity‐onset diabetes of the young pregnancy. Issue 2 (30th January 2019)

Authors:: Taylor, R. A. M.; Mackie, A.; Mogra, R.; Pinner, J.; Rajendran, S.; Ross, G. P.
Journal:: Diabetic medicine
Issue:: Volume 36:Issue 2(2019)
Page Start:: 252
Record Type:: Journal Article
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3. Fetal Costello syndrome: description of phenotype of HRAS exon 1 mutations. (3rd February 2020)

Authors:: Schøler Nørgaard, M.; Mogra, R.; Pinner, J.; Kagan, K. O.; Warming Jørgensen, M.; Gjørup, V.; Petersen, O. B.; Sandager, P.; Vogel, I.
Journal:: Ultrasound in obstetrics & gynecology
Issue:: Volume 55:Number 2(2020)
Page Start:: 274
Record Type:: Journal Article
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