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Neurogenetics
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May 20, 2021
More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly
K Kloth, L Graul-Neumann, K Hermann, et al.
Molecular Syndromology
|
December 23, 2011
Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum
S 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 acrodysostosis
F 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 phenotype
I Parenti, C Gervasini, J Pozojevic, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 5) with videos related to
Sort By:
Page
of 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 macrocephaly
K Kloth, L Graul-Neumann, K Hermann, et al.
Molecular Syndromology
|
December 23, 2011
Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum
S 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 acrodysostosis
F 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 phenotype
I Parenti, C Gervasini, J Pozojevic, et al.
Page
of 1