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Author/Creator Walter, John H

1. Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes. Issue 12 (8th November 2021)

Authors:
Vidali, Silvia; Gerlini, Raffaele; Thompson, Kyle; Urquhart, Jill E; Meisterknecht, Jana; Aguilar‐Pimentel, Juan Antonio; Amarie, Oana V; Becker, Lore; Breen, Catherine; Calzada‐Wack, Julia; Chhabra, Nirav F; Cho, Yi‐Li; da Silva‐Buttkus, Patricia; Feichtinger, René G; Gampe, Kristine; Garrett, L...
Journal:
EMBO molecular medicine
Issue:
Volume 13:Issue 12(2021)
Page Start:
n/a
Record Type:
Journal Article
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2. Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. Issue 11 (3rd May 2017)

Authors:
Ghosh, Arunabha; Schlecht, Helene; Heptinstall, Lesley E; Bassett, John K; Cartwright, Eleanor; Bhaskar, Sanjeev S; Urquhart, Jill; Broomfield, Alexander; Morris, Andrew AM; Jameson, Elisabeth; Schwahn, Bernd C; Walter, John H; Douzgou, Sofia; Murphy, Helen; Hendriksz, Chris; Sharma, Reena; Wilco...
Journal:
Archives of disease in childhood
Issue:
Volume 102:Issue 11(2017)
Page Start:
1019
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Key European guidelines for the diagnosis and management of patients with phenylketonuria. Issue 9 (September 2017)

Authors:
van Spronsen, Francjan J; van Wegberg, Annemiek MJ; Ahring, Kirsten; Bélanger-Quintana, Amaya; Blau, Nenad; Bosch, Annet M; Burlina, Alberto; Campistol, Jaime; Feillet, Francois; Giżewska, Maria; Huijbregts, Stephan C; Kearney, Shauna; Leuzzi, Vincenzo; Maillot, Francois; Muntau, Ania C; Trefz, F...
Journal:
Lancet
Issue:
Volume 5:Issue 9(2017)
Page Start:
743
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗