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L Graul-Neumann

Showing results (1-10 of 5) with videos related to

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Neurogenetics|May 20, 2021
More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephalyK Kloth, L Graul-Neumann, K Hermann, et al.
Molecular Syndromology|December 23, 2011
Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical SpectrumS Rudnik-Schöneborn, K Zerres, L Graul-Neumann, et al.
Klinische Monatsblatter Fur Augenheilkunde|November 17, 2009
[Family screening in patients with retinal angiomatosis]K-M Kreusel, L Krause, L Graul-Neumann, et al.
Clinical Genetics|February 22, 2013
Novel mutations of the PRKAR1A gene in patients with acrodysostosisF Muhn, E Klopocki, L Graul-Neumann, et al.
Clinical Genetics|February 6, 2015
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotypeI Parenti, C Gervasini, J Pozojevic, et al.
Pageof 1

Showing results (1-10 of 5) with videos related to

Sort By:
Pageof 1
Neurogenetics|May 20, 2021
More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephalyK Kloth, L Graul-Neumann, K Hermann, et al.
Molecular Syndromology|December 23, 2011
Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical SpectrumS Rudnik-Schöneborn, K Zerres, L Graul-Neumann, et al.
Klinische Monatsblatter Fur Augenheilkunde|November 17, 2009
[Family screening in patients with retinal angiomatosis]K-M Kreusel, L Krause, L Graul-Neumann, et al.
Clinical Genetics|February 22, 2013
Novel mutations of the PRKAR1A gene in patients with acrodysostosisF Muhn, E Klopocki, L Graul-Neumann, et al.
Clinical Genetics|February 6, 2015
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotypeI Parenti, C Gervasini, J Pozojevic, et al.
Pageof 1