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Pediatric Nephrology (Berlin, Germany)|February 23, 2021
Determinants of growth after kidney transplantation in prepubertal childrenJulia Grohs, Rainer-Maria Rebling, Kerstin Froede, et al.
Clinical Journal of the American Society of Nephrology : CJASN|July 11, 2009
A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failureKarl Lhotta, Andreas R Janecke, Johanna Scheiring, et al.
The Journal of Investigative Dermatology|June 19, 2009
In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growthSandra M Pasternack, Ivar von Kügelgen, Melanie Müller, et al.
International Journal of Obesity (2005)|September 14, 2024
Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiencyBenno Kohlmaier, Kristijan Skok, Carolin Lackner, et al.
Pediatric Nephrology (Berlin, Germany)|November 30, 2006
Growth impairment shows an age-dependent pattern in boys with chronic kidney diseaseMiroslav Zivicnjak, Doris Franke, Guido Filler, et al.
Brain : a Journal of Neurology|May 26, 2021
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasisPauline E Schneeberger, Sheela Nampoothiri, Tess Holling, et al.
Human Genetics|April 20, 2020
AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defectKatharina M C Klee, Andreas R Janecke, Hasret A Civan, et al.
Human Mutation|February 27, 2010
Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell modelFrank M Ruemmele, Thomas Müller, Natalia Schiefermeier, et al.
Pediatric Nephrology (Berlin, Germany)|October 23, 2016
Kidney transplantation fails to provide adequate growth in children with chronic kidney disease born small for gestational ageDoris Franke, Rena Steffens, Lena Thomas, et al.
Pediatric Nephrology (Berlin, Germany)|December 2, 2010
Age-related stature and linear body segments in children with X-linked hypophosphatemic ricketsMiroslav Zivičnjak, Dirk Schnabel, Heiko Billing, et al.
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