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Author/Creator Bergmann, Carsten

1. A de novo GLI3 mutation in a patient with acrocallosal syndrome. Issue 6 (30th April 2013)

Authors:
Speksnijder, Leonie; Cohen‐Overbeek, Titia E.; Knapen, Maarten F.C.M.; Lunshof, Simone M.; Hoogeboom, A. Jeannette M.; van den Ouwenland, Ans M.; de Coo, Irenaneus F.M.; Lequin, Maarten H.; Bolz, Hanno J.; Bergmann, Carsten; Biesecker, Leslie G.; Willems, Patrick J.; Wessels, Marja W.
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 6(2013:Jun.)
Page Start:
1394
Record Type:
Journal Article
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3. A SEC61A1 variant is associated with autosomal dominant polycystic liver disease. (20th December 2022)

Authors:
Schlevogt, Bernhard; Schlieper, Vincent; Krader, Jana; Schröter, Rita; Wagner, Thomas; Weiand, Matthias; Zibert, Andree; Schmidt, Hartmut H.; Bergmann, Carsten; Nedvetsky, Pavel I.; Krahn, Michael P.
Journal:
Liver international
Issue:
Volume 43:Number 2(2023)
Page Start:
401
Record Type:
Journal Article
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6. Combined liver‐kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome. (15th April 2013)

Authors:
Brinkert, Florian; Lehnhardt, Anja; Montoya, Carmen; Helmke, Knut; Schaefer, Hansjoerg; Fischer, Lutz; Nashan, Bjoern; Bergmann, Carsten; Ganschow, Rainer; Kemper, Markus J.
Journal:
Transplant international
Issue:
Volume 26:Number 6(2013:Jun.)
Page Start:
640
Record Type:
Journal Article
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7. Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease. Issue 5 (11th April 2013)

Authors:
Schmidts, Miriam; Frank, Valeska; Eisenberger, Tobias; al Turki, Saeed; Bizet, Albane A.; Antony, Dinu; Rix, Suzanne; Decker, Christian; Bachmann, Nadine; Bald, Martin; Vinke, Tobias; Toenshoff, Burkhard; Di Donato, Natalia; Neuhann, Theresa; Hartley, Jane L.; Maher, Eamonn R.; Bogdanović, Radova...
Journal:
Human mutation
Issue:
Volume 34:Issue 5(2013:May)
Page Start:
714
Record Type:
Journal Article
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8. Comparative meta‐analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia. (15th July 2020)

Authors:
Hoermann, Henrike; El‐Rifai, Omar; Schebek, Martin; Lodefalk, Maria; Brusgaard, Klaus; Bachmann, Nadine; Bergmann, Carsten; Roeper, Marcia; Welters, Alena; Salimi Dafsari, Roschan; Blankenstein, Oliver; Mayatepek, Ertan; Christesen, Henrik; Meissner, Thomas; Kummer, Sebastian
Journal:
Clinical endocrinology
Issue:
Volume 93:Number 3(2020)
Page Start:
346
Record Type:
Journal Article
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