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Molecular Genetics and Metabolism
|
June 2, 2001
Molecular genetics of type 1 glycogen storage disease
A R Janecke, E Mayatepek, G Utermann
Klinische Padiatrie
|
November 26, 1999
[Application of indirect calorimetry in monitoring feeding of low birth-weight preterm infants]
T Krämer, T Böhler, A R Janecke, et al.
Journal of Inherited Metabolic Disease
|
January 26, 2006
Mutation spectrum of type I glycogen storage disease in Hungary
G Miltenberger-Miltenyi, L Szonyi, L Balogh, et al.
Early Human Development
|
May 13, 1999
Increased energy expenditure and fecal fat excretion do not impair weight gain in small-for-gestational-age preterm infants
T Böhler, T Krämer, A R Janecke, et al.
Clinical Genetics
|
January 12, 2017
A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants
M Baumann, E Steichen-Gersdorf, B Krabichler, et al.
Ophthalmology
|
February 5, 2005
Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome
E M Messmer, K R Kenyon, O Rittinger, et al.
Human Genetics
|
May 17, 2001
De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss
A R Janecke, D Nekahm, J Löffler, et al.
Klinische Padiatrie
|
December 21, 2007
[Van-der-Woude Syndrome]
B Del Frari, M Amort, A R Janecke, et al.
Journal of Medical Genetics
|
May 24, 2001
Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family
A R Janecke, K Unsinn, A Kreczy, et al.
European Journal of Human Genetics : EJHG
|
April 21, 2001
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria
J Löffler, D Nekahm, A Hirst-Stadlmann, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 17) with videos related to
Sort By:
Page
of 2
Molecular Genetics and Metabolism
|
June 2, 2001
Molecular genetics of type 1 glycogen storage disease
A R Janecke, E Mayatepek, G Utermann
Klinische Padiatrie
|
November 26, 1999
[Application of indirect calorimetry in monitoring feeding of low birth-weight preterm infants]
T Krämer, T Böhler, A R Janecke, et al.
Journal of Inherited Metabolic Disease
|
January 26, 2006
Mutation spectrum of type I glycogen storage disease in Hungary
G Miltenberger-Miltenyi, L Szonyi, L Balogh, et al.
Early Human Development
|
May 13, 1999
Increased energy expenditure and fecal fat excretion do not impair weight gain in small-for-gestational-age preterm infants
T Böhler, T Krämer, A R Janecke, et al.
Clinical Genetics
|
January 12, 2017
A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants
M Baumann, E Steichen-Gersdorf, B Krabichler, et al.
Ophthalmology
|
February 5, 2005
Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome
E M Messmer, K R Kenyon, O Rittinger, et al.
Human Genetics
|
May 17, 2001
De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss
A R Janecke, D Nekahm, J Löffler, et al.
Klinische Padiatrie
|
December 21, 2007
[Van-der-Woude Syndrome]
B Del Frari, M Amort, A R Janecke, et al.
Journal of Medical Genetics
|
May 24, 2001
Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family
A R Janecke, K Unsinn, A Kreczy, et al.
European Journal of Human Genetics : EJHG
|
April 21, 2001
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria
J Löffler, D Nekahm, A Hirst-Stadlmann, et al.
Page
of 2